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1 0102ｨｨｨｪ09ｨ 04ｨｨ09ｨｪｨ ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨ ｨｮｨｺｨｰｨｨ09ｨｪ06ｨｦ ｨｬ0201ｨｨ02ｨｨｨｪ02* 04ｨｨ00ｨ 05ｨｨｨｪｨ , 05ｨｺ0807ｨ ｨｨｨｪ ,2, 0902ｨ ,2 1 ｪ 01ｨ 02ｨｨ06ｨｪｨ 05ｨｹｨｪ04ｨｦ ｨｨ ｨ ｨｰ0205ｨｹ09ｨｺｨｨｨｦ 0606ｨｬ09ｨｺｨｨｨｦ ｨｮ01ｨ 0809ｨｰ0902ｨｪｨｪ04ｨｦ ｨｮｨｪｨｨ ｨｨｨｰ02ｨｰ, , ｨｬ09ｨｺ, ｨｪｨｨｨｪｨ, 36; darya.zhigalina@medgenetics.ru 2 ｪ ｨ 05ｨｹｨｪ ｨｮ01ｨ 0809ｨｰ0902ｨｪｨｪ0602 ｨ ｨｰｨｪ0602 ｨｪｨ ｨｮ ﾂｨｪ0602 ｨｮ ﾂ ｨｪｨｨ ｨ ｨｮ ﾂｨｪ06-ｨｨ ｨ ｨｰ0205ｨｹ09ｨｺｨｨｨｦ ｨｨｨｪ09ｨｰｨｨｨｰｨｮｨｰ ｨｬ0201ｨｨ02ｨｨｨｪ09ｨｺ06ｨｦ 0002ｨｪ02ｨｰｨｨｨｺｨｨ03, , ｨｬ09ｨｺ, ｨｮ05. 01ｨ ｨ ｨｪｨ ｨｺｨｨ 0703ｨ ｨｦｨｺｨｨ, ｨｪｨ 09ｨｰ0607ｨｴ ｨｬ07 01ｨｨｨ 00ｨｪ0609ｨｰｨｨ ﾂ0209ｨｺｨｨ ｨｮ0804, ｨｪ02 ｨｰ0802ｨ ｨｮ06ｨｴｨｨ02 ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ ｨｬ0203ｨ ｨｰ0205ｨｹ09ｨｰ09ｨ, ｨｹ04ｨｮ06ｨｰ0907 ｨ 0605ｨｹ0306ｨｦ ｨｮ050708ｨｪ0609ｨｰｨｹ ｨｨ ｨｪｨ ｨｰｨ 05ｨｹｨｪ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺ ｨ ｨｪ0402 ｨｬ02ｨｰ ｨｰ ｨｨ09ｨｺ0506 ﾂｨｨｨｰｨｹ 08ｨｨ09ｨｺ 0708ｨｨ ﾂｨｨｨｪ02ｨｪｨｨ ｨ ｨｹ06 ｨｬｨ ｨｰ0208ｨｨ ｨｨ ｨ ｨ ｨ 0909ｨｬ06ｨｰ0802ｨｪ ｨｪ0609ｨｪ , 0708ｨｨｨｬ02ｨｪ0702ｨｬ ｨｪｨ 09ｨｰ0607ｨｴｨｨｨｦ ｨｬ06ｨｬ02ｨｪｨｰ 0708ｨｨ ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ 0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ ｨｪｨ ｨｰｨ 05ｨｹｨｪ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺ02. 02ｨｰ010205ｨｹｨｪ ｨｪｨｨｨｬｨ ｨｪｨｨ02 ｨｮ ｨｪ ｨｬ0603ｨｪ0609ｨｰｨｨ ｨｨ ｨｹ040609ｨ ｨｪｨｨ07 08ｨ 0408ｨ ｨ 06ｨｰｨ ｨｪｨｪ0401 ｨｬ02ｨｰ ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺ06ｨｦ 0708ｨ ｨｺｨｰｨｨｨｺ02 09 ｨｪｨ 09ｨｰ0607ｨｴ ｨｬ07 ｨｨ 09 ｨ 05ｨｨ03ｨ ｨｦ0302ｨｦ ｨｺｨｰｨｨ ﾂ ｨ : 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪｨ ｨ, ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪｨ ｨｪｨ ｨｰｨ 05ｨｹｨｪｨ ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨ 07 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨ, ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪｨ ｨｨｨｬ0705ｨ ｨｪｨｰｨ 02ｨｨ06ｨｪｨｪｨ ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨ 07 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨ, ｨｪｨｨ ｨ ｨ, ｨｮ09-00ｨ ｨｺｨｰ ｨ, ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨ ｨｪｨｨ02 04ｨ 0408ｨ ｨ 06ｨｰｨｺｨ ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ0401 ｨｬ02ｨｰ ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ ｨ ｨｪｨ 05ｨｨ04ｨ ｨｪｨ ｨｰｨ 05ｨｹｨｪ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺ ｨｰ ｨｨｨｰｨｹ ｨｬ060906ｨｬｨｪ0402 ｨｪｨ 08ｨｮ0302ｨｪｨｨ ｨ ｨ 0204 ｨｨ ｨｹ040609ｨ ｨｪｨｨ07 ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ ｨｮ08. 06ｨ ｨｺｨ 07 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨ ｨｨｨｬ0202ｨｰ ｨｨｨｬｨｮｨｴ0209ｨｰ ｨｺ05ｨ 0909ｨｨ ﾂ0209ｨｺ06ｨｦ ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺ06ｨｦ, 09 ｨｪｨ 09ｨｰ0607ｨｴｨｨｨｦ ｨｬ06ｨｬ02ｨｪｨｰ 03ｨｨ0806ｨｺ ｨｨｨｬ02ｨｪ0702ｨｬ06ｨｦ 09 ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺ06ｨｦ 0708ｨ ｨｺｨｰｨｨｨｺ02 ｨｨ 09ｨｺ0506 ﾂｨ 06ｨｴ02ｨｦ ｨ 07 ｨｨ ｨ ｨｪｨｨ02 ｨ ｨｨ ｨｨ ﾂ0209ｨｺ ｨｬｨ ｨｰ0208ｨｨｨ 05ｨ, ｨｮ ﾂ02ｨｪｨｪ ｨｨ ｨ 0907ｨｨ08ｨ 02ｨｨｨｨ ｨｨｨｪ ｨｨ06ｨｪｨ, ｨ ｨｬｨｪｨｨ060202ｨｪｨｰ ｨｨ05ｨｨ ｨｺ ｨｪｨｰ ｨ ｨｪｨｪ ｨｰ ｨｨｨｦ09ｨｺ ｨｬｨｮ05ｨｹｨｰｨｨ0202ｨｪｨｰ ｨｨ ｨ ｨｪｨｨ ｨｺｨ ｨ 06ｨｰ, ﾂｨｰ ｨｰｨｪ0609ｨｰｨｹ ｨ ｨｪｨｨ07 ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ 09 ｨｰ02 ﾂ02ｨｪｨｨ ｨｮ01 ｨｪ ｨｹ ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ ｨｬ0203ｨ ｨｰ0205ｨｹ09ｨｰ09ｨ ｨｰｨ ｨｰ ｨｪ02ｨｬ 1,7% [2] ｨ ｨｪｨｪ04ｨｬ F. Mujezinovic ｨｨ Z. Alfirevic, ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ ｨｮ ｨｨ ｨｰ ｨｺ 08ｨｨ09ｨｺｨｮ 0904ｨｺｨｨ010403ｨ 09 0,6%, ｨ 09 ｨｰ02 ﾂ02ｨｪｨｨ ｨｪ02ｨｦ ｨｮ0804 ｪ ｨｪ02ｨｬ 09 2% 0905ｨｮ ﾂｨ 0209 [36] ｨ ｨｺｨｰ ｨｬ060302ｨｰ ｨｨ07ｨｰｨｹ ｨｪｨ 08ｨ 0409ｨｨｨｰｨｨ ｨｪ02ｨｪｨｨｨｦ ｨｨ ｨｪｨ ｨｮ05ｨｹｨｰｨ ｨｰ04 ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ ｨｪｨ ｨｰｨ 05ｨｹｨｪ06ｨｦ 01ｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ. 08 ｨｰｨ ｨｺｨｨｨｬ 00ｨ ｨｺｨｰ0608ｨ ｨｬ ｨｬ0603ｨｪ06 06ｨｰｨｪ0209ｨｰｨｨ ｨ 09ｨｰ 0302ｨｪｨｴｨｨｨｪ04, ｨｪ02ｨｪｨｪ04ｨｦ ｨ ｨｺｨｮ ｨｺｨｨｨｦ ｨ ｨｪｨ ｨｬｨｪ0204, ｨｰ 0908ｨ ﾂｨ, 0609ｨｪｨ ｨｴ02ｨｪｨｪ0609ｨｰｨｹ ｨｬ0201ｨｨ02ｨｨｨｪ09ｨｺ ｨｮ ﾂ ｨｪｨｨ07 ｨｨ 0108ｨｮ00ｨｨ02 [7] ｨｬ06ｨｰ0807 ｨｪｨ 06ｨｰｨｪ0609ｨｨｨｰ0205ｨｹｨｪｨｮ ｨｪ0609ｨｰｨｹ ｨｪｨｨ07 ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ, ｨｮ05ｨｹｨｰｨ ｨｰｨｨ09ｨｪ0609ｨｰｨｹ ｨｬ060302ｨｰ ｨ 04ｨｰｨｹ ｨｰｨ 09ｨｨｨｬｨ 09 ｨｰｨ ｨｺ060906ｨｦ ｨｮ ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ0401 ｨｬ02ｨｰ ｨ ｨｪｨ 05ｨｨ04ｨ ｨｹ040609ｨ ｨｪｨｨ02 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ , ｨｪｨｪ06ｨｦ ｨｨ ｨ 04ｨｬ04 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ 0708ｨｨ ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ 0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺ02 ｨｰ08ｨｨ0906ｨｬｨｨｨｨ 21, 0706ｨｺｨ 04ｨ ｨｺｨｮ06 ﾂｨ 09ｨｰ06ｨｰｨｮ ｨｪｨｨ07 ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｨ (99%) ｨｨ ｨｪｨｨ04ｨｺｨｨｨｦ ｨｮ ｨｪｨｹ ｨｪ ｨｨｨｰ0205ｨｹｨｪ ｨｮ05ｨｹｨｰｨ ｨｰ0609 ｪ 06ｨｺ ,1% [10, 38, 48]. 0102ｨｨｨｪ09ｨ 04ｨｨ09ｨｪｨ ｨｪｨ ｨｰｨ 05ｨｹｨｪｨ ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨ 07 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨ 0609ｨｪ0609ｨ ｨｪｨ ｨｪｨ ｨ ｨｪｨ 05ｨｨ0402 ｨｺ0502ｨｰ06ｨｺ ｨ ｨｮ ﾂ02ｨｪｨｪ0401 ｨｨ04 ｨｺ ｨｰ06ｨｺｨ ｨｬｨ ｨｰ0208ｨｨ, ｨ ｨｰｨ ｨｺ0302 ｨｪｨ ｨｨ ｨ ｨｪｨｨｨｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ (cell-free fetal DNA, cffdna) 05ｨｨｨ 06 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ (cffrna) ｨｪ0201ｨ 09ｨｪ ｨｬ02ｨｪｨｨ 06ｨｰ010205ｨｹｨｪ ｨｪｨｨｨｬｨ ｨｪｨｨ02 ｨｮ ｨｹ ｨｮ ﾂ02ｨｪｨｨ ｨｰｨ 05ｨｹｨｪ0401 ｨｺ0502ｨｰ06ｨｺ ｨｨ04 ｨｺ ｨｰ06ｨｺｨ ｨｬｨ ｨｰ0208ｨｨ [1, 4]. 0201ｨｪｨ ｨｺ06 ｨｨ ｨｹ040609ｨ ｨｪｨｨ02 ｨｰｨ ｨｺ ｨ ｨｪ ｨｮｨｴ0209ｨｰ0902ｨｪｨｪ04ｨｬｨｨ ｨｬ02ｨｰ0601ｨｨ ﾂ0209ｨｺｨｨｨｬｨｨ ｨ ｨｪｨｨ ﾂ02ｨｪｨｨ07ｨｬｨｨ ｨｰ09ｨｨ02 ﾂ ﾂｨ ｨｦｨｪ06 ｨｪｨｨ04ｨｺｨｨ01 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨｨｦ ｨｪ0401 ｨｺ0502ｨｰ06ｨｺ 09 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ. 00 ｨｪｨ 09ｨｰ0607ｨｴ02ｨｬ 06ｨ ﾂｨｹ 0706ｨｦ0102ｨｰ 06 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ / ｨ 09 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ ｨｨ 09 ｨｰ02ｨｬ, ﾂｨｰ06 09 ｨｪｨ 09ｨｰ0607ｨｴｨｨｨｦ ｨｬ06ｨｬ02ｨｪｨｰ ｨｨ01 ｨ ｨｪｨ 05ｨｨ ｨｰ0907 ｨｪｨ ｨｨｨ ｨ ｨｺｨｰｨｨ09ｨｪ06 08ｨ 0409ｨｨ09ｨ 02ｨｬ06ｨｦ 06ｨ 05ｨ 09ｨｰｨｹ06 ｨｨ ｨ ｨｪｨｨｨｦ ｨｮｨｺｨｰｨｨ09ｨｪ06ｨｦ ｨｬ0201ｨｨ02ｨｨｨｪ Dennis Lo ｨ 09ｨｰ0608ｨ ｨｬｨｨ 0706ｨｺｨ 04ｨ 05ｨｨ ｨｪｨ 05ｨｨ ﾂｨｨ ｨ ｨ 04ｨｬ02 ｨｨ ｨｰｨｺ02 ｨｺ080609ｨｨ ｨ ｨｬ02ｨｪｨｪ ｨｪｨｴｨｨｨｪ [30]. 05ｨｰ06ｨｨｨｰ 09ｨｺｨ 04ｨ ｨｰｨｹ, ﾂｨｰ06 04ｨ ｨｬ02ｨｰｨｪ04ｨｦ 09ｨｺ05ｨ ｨｨ04ｨｮ ﾂ02ｨｪｨｨ02 ｨ ｨｨ ｨｨｨｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ0401 ｨｪｨｮｨｺ0502ｨｨｨｪ ｨｺｨｨ090506ｨｰ ｨ 04ｨｬ02 ｨｺ080609ｨｨ ﾂ ｨｺｨ 09ｨｪ020905ｨｨ ｨｨ 06ｨｰ02 ﾂ0209ｨｰ0902ｨｪｨｪ0402 ｨｮ ﾂ02ｨｪ0402 ｪ ｨ , ｨ ｨｺｨｰｨｨ06ｨｪ0609 ｨｨ ｨｺ0609ｨ [52]. 06ｨ ｨｺ, ｨｪｨ 0708ｨｨｨｬ0208, ｨｨｨｬｨｨ ｨ ｨｺｨ 04ｨ ｨｪ06, ﾂｨｰ06 09 ｨｺ080609ｨｨ ｨ ｨｬ02ｨｪｨｪ ｨｪｨｴｨｨｨｪ ｨｬ060302ｨｰ ｨｪｨ ｨｨｨｰｨｹ ｨ 0601ｨｪ06ｨｬ ｨｰ0607ｨｪｨｨｨｨ ｨｨｨ 04ｨｰｨｹ ｨ ｨｪｨｪ06ｨｦ09ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨｪ0609ｨｰｨｹ06.06ｨ ｨｺ0302ｨ 0405ｨ ｨｮ ﾂ02ｨｪｨ ｨｨｨｪ000608ｨｬｨ 02ｨｨ07 06ｨｰｨｪ0609ｨｨｨｰ0205ｨｹｨｪ06 08ｨ 04ｨｬ ｨ 00ｨｬ02ｨｪｨｰ ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ0401 ｨｪｨｮｨｺ0502ｨｨｨｪ ｨｺｨｨ090506ｨｰ ｨｮ ﾂ02ｨｪ ｨ ｨｪｨｪ0402 ｨｬ0603ｨｪ06 ｨｨ ｨｹ040609ｨ ｨｰｨｹ ｨｪ02 ｨｰ0605ｨｹｨｺ ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ ｨｪｨ ｨｰｨ 05ｨｹｨｪ06ｨｦ 0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ, ｨｪ06 ｨｨ, ｨｪｨ 0708ｨｨｨｬ0208, ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ 08ｨ ｨｺｨ ｨｪｨ 08ｨ ｨｪｨｪｨｨ01 09ｨｰｨ 01ｨｨ ｨｬ06ｨｬ02ｨｪｨｰｨ 06ｨ ｨｪｨ 08ｨｮ0302ｨｪｨｨ07 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ ｨｨ ｨ 09 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ ｨｨ05ｨ 09ｨｹ ｨｬ0603ｨｪ0609ｨｰｨｹ ｨｨ01 ｨｨ ｨｹ040609ｨ ｨｪｨｨ ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ ｨｪｨ ｨｰｨ 05ｨｹｨｪ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ 0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｨ01 04ｨ ｨ ｨ ｨｪｨｨｨｦ ｨｮ ｨ ( / NIPT) [13]. 00ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪｨ ｨｰ06ｨｨｨｰ ｨｨ ｨ ｨｺ02ｨｨ06ｨｪｨｨ080609ｨ ｨｪｨｪ0401 ｨｪｨｮｨｺ0502ｨ 04ｨ ｨｬｨｨ ｨ ｨｰ0205ｨｹｨｪ0609ｨｰ02ｨｦ , ｨｪｨ ｨｨｨ ｨｨｨｪｨｪ0402 ｨｨ04 * ｨ ｨｪｨｨ ｨｪ02ｨｪ ｨｨ ｨｺ ｨ ｨｪｨｰｨ , 0008ｨ ｨｪｨｰｨ ｨｨ0102ｨｪｨｰｨ ｨｨｨｦ09ｨｺ06ｨｦ ｨ 02ｨｨｨｨ ｨｮ01ｨ 0809ｨｰ0902ｨｪｨｪ06ｨｦ ｨｺｨｨ ｨｮｨｴｨｨ01 ｨｪｨ ｨｮ ﾂｨｪ ｨｺ ｨｨｨｦ09ｨｺ06ｨｦ ｨ 02ｨｨｨｨ ｨｨ ｨ ｨｬｨｬ ｨ ｨｮ ﾂｨｪ04ｨｦ 0006ｨｪ01 ｨｨｨｬ ｨｪ ｨ 0606ｨｬ09ｨｺ ｨｮ01ｨ 0809ｨｰ0902ｨｪｨｪ ｨｮｨｪｨｨ ｨｨｨｰ02ｨｰｨ ISSN

2 ｨｺ06ｨｰ (070802ｨｨｨｬｨｮｨｴ0209ｨｰ0902ｨｪｨｪ06 ｨｬｨ ｨｰ0208ｨｨｨｪ09ｨｺｨｨ02) ｨｰｨ ｨｪ ｨ 00ｨｬ02ｨｪｨｰｨ ｨｬｨｨ ｪ ｨｪ. [33]. 00ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪｨ ｨ ｨｰｨ ｨｰ 6 ｪ10% ｨｦ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨｬ ｨｨ 09ｨｰ060806ｨｬ ｨｰ08ｨｨｨｬ0209ｨｰ08ｨ 01 ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ ｨｨ ｨ 09ｨｰｨ 02ｨｰ % 09 ｨｰ0802ｨｰｨｹ02ｨｬ ｨｰ08ｨｨｨｬ0209ｨｰ0802 [33, 35]. 06ｨｬ02ｨｪｨｪ ｨｪｨｨ02ｨｬ ｨｨ ｨ ｨｪｨ 05ｨｨ0406ｨｬ ｨ ｨｪ06 08ｨ 0409ｨｨｨｰｨｨ02 ｨｬ02ｨｰ (08ｨｨ09. 1). 0102ｨｨｨｪ09ｨ 04ｨｨ09ｨｪｨ ｨｪｨ ｨｰｨ 05ｨｹｨｪｨ 07 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨ ｨ ｨ 00 ｨｺ ｨｰ06ｨｺ02 ｨｬｨ ｨｰ0208ｨｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪｨｮ ｨ ｨｬ0603ｨｪ ｨｨｨｰｨｹ ｨｺ0605ｨｨ ﾂ0209ｨｰ0902ｨｪｨｪ06, ﾂｨｰ06 09ｨ 03ｨｪ ｨ ｨｪｨｪ02ｨｦ 0106ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ ｨｪ02ｨｪｨｨｨｦ ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ ｨｨ ｨ ｨｪｨｨ07, ｨｺｨ 09ｨ 06ｨｴｨｨ ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｦ, 0006ｨｺｨｮ09ｨｨ080609ｨ 05ｨｨ09ｨｹ ｨｪｨ ｨｺ0605ｨｨ ﾂ0209ｨｰ0902ｨｪｨｪ06ｨｬ ｨｪｨｨｨｨ ｨ ｨｰ0205ｨｹｨｪ0609ｨｰ02ｨｦ ｨｬｨｮ0309ｨｺ06ｨｦ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ 09 ｨｬｨ ｨｰ0208ｨｨｨｪ09ｨｺ06ｨｦ 0705ｨ 04ｨｬ02 ｨｬ02ｨｰ060106ｨｬ ｨｨｨｬ0208ｨ 04ｨｪ06ｨｦ ｨｪ06ｨｦ 0802ｨ ｨｺ02ｨｨｨｨ (030004) ｨ 05ｨｹｨｪ06ｨｬ ｨｬ02ｨｪｨｨ [31]. 06ｨｰ ｨ ｨｪ06 09 ｨｰ02ｨｬ, ﾂｨｰ ｨｪｨｨ ｨ ｨｰ0205ｨｹｨｪ0609ｨｰ02ｨｦ Y ｨｬ060906ｨｬ04 01ｨ 02ｨｰ ｨｬ0603ｨｪ0609ｨｰｨｹ ｨｰ06 ﾂｨｪ06 08ｨ ｨｨｨｰｨｹ ｨ ｨｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪｨｮ ｨｬｨ ｨｰ0208ｨｨ. 0207ｨｮｨ 05ｨｨｨｺ0609ｨ ｨｪ04 08ｨ ｨ 06ｨｰ ｨ ｨｪｨ 08ｨｮ0302ｨｪｨｨ ｨ ｨｰ0205ｨｹｨｪ0609ｨｰ02ｨｦ Y ｨｬ060906ｨｬ ｨ ｨｪｨｨ07 ｨｪｨ ｨｰ0902ｨｪｨｪ ｨ ｨ ｨ ｨｪｨｨｨｦ, ｨｪｨｪ ｨｬ [58] ｨｪ06 ｨｬｨｪ ｨｰ0906 ｨｨ ｨ ｨｪｨｨｨｦ ｨｰ060006, ﾂｨｰ06ｨ ｨｪｨｨｨｰｨｹ ｨｰ06 ﾂｨｪ0609ｨｰｨｹ 0102ｨｰ02ｨｺ02ｨｨｨｨ Y ｨｬ060906ｨｬ ｨｨ ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ 09 ｨｺ ｨｰ06ｨｺ02 ｨｬｨ ｨｰ0208ｨｨ ｨｨ 09 01ｨ 05ｨｹｨｪ02ｨｦ0302ｨｬ ｨｨ ｨｹ040609ｨ ｨｰｨｹ 05ｨｰｨｨ 01ｨ ｨｪｨｪ ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ ｨ ｨ, ｨｪｨｪ ｨｬ 04ｨ ｨ ｨ ｨｪｨｨｨｦ ｨｨ ｨｪｨｪ06ｨｦ 01ｨｨ090705ｨ 04ｨｨｨｨ ｨｪｨ ﾂ02 ﾂｨｪｨｨｨｺ0609 [27]. 00 ｨｪｨ 09ｨｰ0607ｨｴ ｨｬ07 ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ ｨｪｨｨ ｨ ｨｪｨ 0609ｨｪ0609ｨ ｨｪｨｨｨｨ ｨ ｨ 04ｨｬ02 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ ｨｬ0603ｨｪ06 09 ﾂｨｨｨｰｨ ｨｰｨｹ ｨｰｨ ｨｰ06 ﾂｨｪ06 ｨｰ06 ﾂｨｪ04ｨｬ ｨｬ02ｨｰ060106ｨｬ [17] ｨｰｨｪ06, ﾂｨｰ ｨｹｨｬ06ｨｦ ｨｪ ｨｨ ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ ｨｪｨｨ ｨｺｨｮ Y ｨｬ060906ｨｬ04 ｨｬ02ｨｰ060106ｨｬ 06ｨ 04 ﾂｨｪ06ｨｦ ｨｰｨ ｨｰ 95%, ｨ 0708ｨｨ ｨｨ ｨｹ040609ｨ ｨｪｨｨｨｨ ｨ 05ｨｹｨｪ06ｨｬ ｨｬ02ｨｪｨｨ ｨｮ0302 ｨｪｨ 0707ｨｰ06ｨｦ ｨｪ ｨ 0409ｨｨｨｰｨｨ07 ｨｬ0603ｨｪ ｨｨｨｰｨｹ ｨｬｨ 08ｨｨ06ｨｪｨ 09 ｨｰ06 ﾂｨｪ0609ｨｰｨｹ % [3] ｨｨ 09 05ｨｰｨｨｨｬ ｨ ｨｪ0402 ｨｰ0209ｨｰ04 ｨ 0405ｨｨ 09ｨｪ ｨｪ ｨ ｨｺｨｰｨｨｨｺｨｮ ｨｺ05ｨｨｨｪｨｨｨｺ [27]. 00 ｨｺｨ ﾂ0209ｨｰ ｨｨｨｬ0208ｨ ｨｬ0603ｨｪ ｨｨ090209ｨｰｨｨ 08ｨ ｨ 06ｨｰｨｮ P.G. Scheffer ｨ 09ｨｰ0608ｨ ｨｬｨｨ. 00 ｨｨ01 ｨｨ ｨ ｨｪｨｨｨｨ ｨ 0405ｨ ｨ ｨｪｨ 05ｨｨ04ｨｨ080609ｨ ｨｪｨ 0705ｨ 04ｨｬｨ ｨｺ080609ｨｨ ｨ ｨｬ02ｨｪｨｪ ｨｪｨｴｨｨｨｪ, ｨｪｨ ｨｺ ｨｪｨｪｨ ｨ ｨ 0608ｨ ｨｰ0608ｨｨｨｨ 04ｨ ｨｰ [46] ｨｪ ｨ ｨｪｨ 05ｨｨ ｨｪｨ SRY ｨｨ ｨｬｨｮ05ｨｹｨｰｨｨｨｺ0607ｨｨｨｦｨｪ06ｨｦ ｨ ｨｰ0205ｨｹｨｪ0609ｨｰｨｨ ｨｬｨ 08ｨｺ0208ｨ DYS ｨｮ ﾂｨ ｨｨｨｰ0205ｨｹｨｪ ｨｮ05ｨｹｨｰｨ ｨｰｨ ｨ 02ｨｨ01 ｨ ｨｪｨ 05ｨｨ04ｨｨ08ｨｮ02ｨｬ ｨ ｨｰ0205ｨｹｨｪ0609ｨｰ02ｨｦ ｨ 05ｨｨ ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ ｨｬ ｨｬｨｮ0309ｨｺ ｨ ｨｨ ｨｮ05ｨｹｨｰｨ ｨｰ ｨ ｨｰ08ｨｨ02ｨ ｨｰ0205ｨｹｨｪ04ｨｦ, ｨ ｨ ｨｪｨ 05ｨｨ04ｨｨ080609ｨ 05ｨ 09ｨｹ ｨｨｨ ｨｹｨｪ04ｨｬ ｨｨｨｬ060800ｨｨ04ｨｬｨ ｨｬ (ｨｨｨｪ ｨｨｨｦ/ ｨｨｨｦ) ｨｨ05ｨｨ ｨｪｨ ｨｮ02ｨｬ04ｨｬ ｨｰ ｨｺ06ｨｦ 05ｨｨｨｪｨｨｨｨ 0002ｨｪｨ ｨｬ ｨ ｨｪｨｰｨｨ0002ｨｪ ｨｮ0707 ｨｺ080609ｨｨ. 0308ｨｨ 06ｨ ｨｪｨ 08ｨｮ0302ｨｪｨｨｨｨ ｨ ｨ ｨｴｨ ｨｹ 06 ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ ｨｬ 0302ｨｪ09ｨｺ ｨ ｨｰｨｨ080609ｨ ｨｪｨｨ ｨｨ050609ｨｹ 09 ｨｮ ﾂｨ 09ｨｰｨｨ02ｨｬ ｨｪｨｴｨｨｨｪ ｨｪｨｨｨｦ ｨｰｨ 02ｨｨ06ｨｪｨｪ04ｨｦ ｨ 09ｨｰ ｨｰｨ 09ｨｨ05 9 ｨｪ ｨｹ ｨｨ ｨｮ ﾂｨ 07 (94%) ｨ ｨｮ ﾂ02ｨｪ ｨｮ05ｨｹｨｰｨ ｨｰ ｨｰ0209ｨｰｨｨ080609ｨ ｨｪｨｨ07; ｨｮ ﾂｨ 0701 ｨｪｨ 05ｨｨ ﾂｨｨ02 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ ｨｪ02 ｨ ｨｰ ｨｪ06; 02ｨｴ ｨｮ ｨｮ ﾂｨ 0701 (1%) ｨｨ ｨ ｨｪｨｪｨｨｨｦ 0904ｨｺｨｨ ｨｪ000608ｨｬｨ 02ｨｨ07 06ｨ ｨｨ ｨ 01 ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ ｨ 0405ｨ ｨｰｨｮ07ｨｪｨ ｨｮ ﾂｨ 0701, ｨｨ ｨｪｨｨ ｨ ｨｬ02ｨｪｨｪ0609ｨｰ02ｨｦ 04ｨ ｨｨ05ｨｨ09ｨｹ ｨｪｨｨ02ｨｬ ｨｬｨ 05ｨｹ ﾂｨｨｨｺ0609, ｨ 81 ｪ ｨｪｨｨ02ｨｬ ﾂ02ｨｺ, 11 ｨ ｨｬ02ｨｪｨｪ0609ｨｰ02ｨｦ 04ｨ ｨｺ06ｨｪ ﾂｨｨ05ｨｨ09ｨｹ ｨｪｨｰｨ ｨｪｨｪ04ｨｬｨｨ 0904ｨｺｨｨ010403ｨ ｨｬｨｨ. ﾁｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ ｨｨ ｨｨ00ｨｨ ﾂｨｪ0609ｨｰｨｹ ｨｰ0209ｨｰｨ ｨｰｨ 09ｨｨ05ｨｨ 100% ｨｮ ﾂｨ 0701, 09 ｨｺ06ｨｰ ｨｪ02 ｨ ｨ ｨｪｨ 08ｨｮ0302ｨｪ06 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ, ｨｨ05ｨｨ09ｨｹ ﾂｨｺｨｨ. 06ｨ ｨｺｨｨｨｬ 06ｨ 08ｨ 0406ｨｬ, ｨ 09ｨｰ ｨ 06ｨｰ ｨｺ06ｨｦ ｨｪｨ ｨｪ0609ｨｰｨｨ ｨｨ ｨｬ0603ｨｪ0609ｨｰｨｨ 0708ｨｨｨｬ02ｨｪ02ｨｪｨｨ07 09 ｨｺ05ｨｨ- 04ｨｨ ｨｬｨ ｨｰｨｨ ﾂ0209ｨｺ ｨｰｨ ｨｪｨｨ02 ｨｬ02ｨｰ , ｨｨ ｨｹ04ｨｮ02ｨｬ ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ ｨｪｨ ｨｰｨ 05ｨｹｨｪ06ｨｦ 0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺ02. 4

3 ｪ ｪ 0110 ｨｪｨｨ ﾂ0209ｨｺ06ｨｦ 0708ｨ ｨｺｨｰｨｨｨｺ ｨｨ09ｨ ｨｪｨｪ0401 ｨｬ02ｨｰ ｨ ｨｪｨ 05ｨｨ04ｨ ｨｪｨｨ ｨ ｨ ｨ ｨｦ ｨｨ ｨ 08ｨ ｨｪ060904ｨｬ ｨ ｨｪ ｨ ｨｪｨ 05ｨｨ ｨ ｨ ｨｬ06ｨｴｨｹ06 ｨｪｨ ｨ , ｨｨ040006ｨｰｨ 0905ｨｨ09ｨ 02ｨｬ ｨｪ-ｨｰ0201ｨｪ ｨｨ0703 [5] ｨｮ05ｨｹｨｰｨ ｨｰ02 ｨｨ ｨ 08ｨ ｨ 0405ｨｨ ｨｪ06 01ｨｨｨ 00ｨｪ0609ｨｰｨｨ080609ｨ ｨｪ04 ｨｺｨ ｨｺ ｨｬｨｮ0309ｨｺ ｨ, ｨ ｨｰｨ ｨｺ ｨ 09ｨｨ05ｨｹｨｪ ｨｪ ｨ 0302ｨｪ09ｨｺ ｨ ｨｮ ｨｮ ﾂｨ 0701 ｨ ｨ ｨｨ09ｨｰ08ｨｨ080609ｨ ｨｪ ｨｪ ｨｨｨｰ0205ｨｹｨｪ04ｨｦ ｨｮ05ｨｹｨｰｨ ｨｰ. 06ｨ ｨｺｨｨｨｬ 06ｨ 08ｨ 0406ｨｬ, 01ｨｨｨ 00ｨｪ0609ｨｰｨｨ ﾂ0209ｨｺｨ 07 ｨｰ06 ﾂｨｪ0609ｨｰｨｹ ｨｰｨ 09ｨｨ05ｨ 87% ｨｪｨｨ ｨｮ09-00ｨ ｨｺｨｰ0608ｨ ｨ ｨｬ02ｨｰ0601ｨ ｨｬｨｨ ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ ｨｪｨ ｨｰｨ 05ｨｹｨｪ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ 03ｨｴ ｨｪ06ｨｦ 06ｨ 05ｨ 09ｨｰｨｹ ｨｨｨｬ02ｨｪ02ｨｪｨｨ07 ｨ ｨｪｨ 05ｨｨ04ｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ 09ｨｰｨ ｨｪｨｨ ｨｮ09-00ｨ ｨｺｨｰ0608ｨ (RhD) ｨ ｨｨ09ｨｺ0506 ﾂ02ｨｪｨｨ ｨｬ0603ｨｪ ｨｮ09-ｨｺ06ｨｪ0005ｨｨｨｺｨｰｨ ｨｮ070706ｨｦ ｨｺ080609ｨｨ RhD ｨ 02ｨｰ ｨｨ09ｨｺｨｮ 0002ｨｬ0605ｨｨｨｰｨｨ ﾂ0209ｨｺｨｨｨｦ ｨ ｨｪｨｨ ｨｪ ｨｪｨｪ060006, ｨｨ ｨｮ ｨｬｨ ｨｰ0208ｨｨ 09ｨｰｨ ｨｰｨｮ09 RhD-, ｨｨ 09 ｨｺ080609ｨｨ 0708ｨｨ09ｨｮｨｰ09ｨｰ09ｨｮ06ｨｰ ｨ ｨｪｨｰｨｨｨｰ0205ｨ ｨｺ RhD ｨｮ09-00ｨ ｨｺｨｰ0608 ｨｬ060302ｨｰ ｨ 04ｨｰｨｹ ｨｪ ｨｬ02ｨｰ060106ｨｬ ｨ ｨｪｨ 05ｨｨ04ｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ, 0706ｨｰ06ｨｬｨｮ ﾂｨｰ ｨｪ ｨｮ09-00ｨ ｨｺｨｰ0608ｨ 0708ｨｨ09ｨｮｨｰ09ｨｰ09ｨｮ02ｨｰ ｨｪ06ｨｬ02 RhD ｨ, ｨｪ06 ｨｪ02 ｨｮ ｨｮ09-ｨｪ0200ｨ ｨｰｨｨ09ｨｪ06ｨｦ ｨｬｨ ｨｰ0208ｨｨ ｨｺｨ 04ｨ ｨｪ06, ﾂｨｰ06 ｨ ｨｪｨ 05ｨｨ04 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ ｨｰ0907 ｨ ｨ 09ｨｪ04ｨｬ ｨｨ ｨｺｨｰｨｨ09ｨｪ04ｨｬ ｨ 06ｨｬ ｨｪｨｨ ｨｮ09-00ｨ ｨｺｨｰ0608ｨ ｨ [54]. 06ｨｰ06ｨｰ ｨｰｨ ｨｺ0302 ｨ ｨｨ0806ｨｺ ｨｨｨｪ07ｨｰ 0906 ｨｬｨｪ0600ｨｨ01 ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺｨｨ ｨｪｨｰ08ｨ 01 [15]. R.J.P. Rijnders ｨ 09ｨｰ0608ｨ ｨｬｨｨ ｨｨ05ｨｨ ｨｺ0605ｨｨ ﾂ0209ｨｰ0902ｨｪｨｪｨｮ ｨｨｨｬ ｨ 05ｨｹｨｪ ｨｬ02ｨｪｨｨ ｨ ｨｰ0205ｨｹｨｪ0609ｨｰ02ｨｦ ｨｮ09-00ｨ ｨｺｨｰ0608ｨ ｨｨ 0002ｨｪｨ SRY ｨｮ 07ｨ 02ｨｨ02ｨｪｨｰ ｨｪｨｪ04ｨｬ 08ｨｨ09ｨｺ06ｨｬ ｨｪｨｪ ｨｬ 04ｨ ｨ ｨ ｨｪｨｨｨｦ, ｨ ｨｰｨ ｨｺ0302 ｨｮ 07ｨ 02ｨｨ02ｨｪｨｰ ｨ ｨｪｨｰｨｨｨｰ0205ｨ ｨｬｨｨ ｨｺ ｨｮ09-00ｨ ｨｺｨｰ0608ｨｮ [45] ｨ ｨｪｨ 05ｨｨ04ｨｨ080609ｨ ｨｪ ｨ 08ｨ 0402ｨ. ﾁｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ ｨｺ RhD ｨｰｨ 09ｨｨ05ｨ 100% ｨｨ ｨｨ00ｨｨ ﾂｨｪ0609ｨｰｨｹ 96,6%, 09 ｨｰ ｨｬ07 ｨｺｨ ｨｺ ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ ｨｺ SRY ｨ 0405ｨ 97,2%, ｨ ｨｨ00ｨｨ ﾂｨｪ0609ｨｰｨｹ 100% ｨ ｨｰ0205ｨｨ ｨ 06ｨｰ ｨｬ0603ｨｪ0609ｨｰｨｨ 0708ｨｨｨｬ02ｨｪ02ｨｪｨｨ ｨ 04ｨｬ04 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ ｨｪｨｨ07 RhD ｨ 09 ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺ06ｨｦ 0708ｨ ｨｺｨｰｨｨｨｺ ｨ ｨ 06ｨｰ ｨ 08ｨｺ ｨｦ ｨ 09ｨｰ0608ｨ ｨｬｨｨ ｨｨ050609ｨｹ ｨｪｨｨ ｨｮ09-00ｨ ｨｺｨｰ0608ｨ ｨ ｨｪｨ 0609ｨｪ0609ｨ ｨｪｨｨｨｨ ｨ ｨｪｨ 05ｨｨ04ｨ 0705ｨ 04ｨｬ04 ｨｺ080609ｨｨ ｨ ｨｬ02ｨｪｨｪ ｨｪｨｴｨｨｨｪ ｨｹ040609ｨ 05ｨｨ09ｨｹ 06ｨ 08ｨ ｨｺ080609ｨｨ 100 ｨ ｨｬ02ｨｪｨｪ0401 RhD- 0302ｨｪｨｴｨｨｨｪ [6]. 0308ｨｨｨｬ02ｨｪ0705ｨ 09ｨｹ ｨ 05ｨｹｨｪ06ｨｬ ｨｬ02ｨｪｨｨ 09 ｨｨ ｨｹ040609ｨ ｨｪｨｨ02ｨｬ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨ ﾂ0209ｨｺｨｨ01 ｨｪｨ ｨ ｨｮ ｨ 02ｨｪｨｺｨ ｨｨ ｨｰ09ｨ ｨｪ-ｨｰ0201ｨｪ ｨｨ0703 ( ｨｨ07, /09565). ﾁｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ ｨｨ ｨｨ00ｨｨ ﾂｨｪ0609ｨｰｨｹ 01ｨ ｨｪｨｪ ｨｬ02ｨｰ0601ｨ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ ｨｰｨ 09ｨｨ05ｨｨ 100%. 0306ｨｺｨ 04ｨ ｨｪ06, ﾂｨｰ06 01ｨｨｨ 00ｨｪ0609ｨｰｨｨ ﾂ0209ｨｺｨｨ02 ｨｪｨ ｨ ｨｬ0603ｨｪ ｨｺ06ｨｬ02ｨｪ010609ｨ ｨｰｨｹ ｨｪ ｨｪｨｨ07 09 ｨｬ0201ｨｨ02ｨｨｨｪ09ｨｺｨｮ ｨ ｨｺｨｰｨｨｨｺｨｮ ｨ ｨｪｨｪ02ｨｦ ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ ｨｮ09-00ｨ ｨｺｨｰ0608ｨ ｨ. 02ｨ ｨｪｨｪ04ｨｦ ｨｬ02ｨｰ ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ ｨｰ 08ｨ ｨｨｨｰｨｹ ｨ ｨｬ02ｨｪｨｪ ｨｮ09-06ｨｰ08ｨｨ02ｨ ｨｰ0205ｨｹｨｪ06ｨｦ ｨｺ080609ｨｹ06 ｨｪｨ ｨｮ ｨｰ0902ｨｰ09ｨｰ09ｨｨｨｨ ｨｮ09-00ｨ ｨｺｨｰ060806ｨｬ ｨ. 06ｨ ｨｺ06ｨｦ ｨ 02ｨｰ ｨｬ0603ｨｪ0609ｨｰｨｹ 09ｨｪｨｨ04ｨｨｨｰｨｹ 00ｨｨｨｪｨ ｨｪ ｨ ｨｰ08ｨ ｨｰ04 ｨｪｨ ｨ ｨｪｨｰｨｨ080204ｨｮ09-ｨｨｨｬｨｬｨｮｨｪ ｨ ｨｮ05ｨｨｨｪ, ｨｪｨｨ02 ｨｰｨｨｨｰ08ｨ ｨ ｨｪｨｰｨｨｨｰ0205 ｨｮ 0302ｨｪｨｴｨｨｨｪ 09 RhD ｨｬ ｨｨ ｨｮ010205ｨｨｨｰｨｹ ｨ ｨｪｨｨｨｬｨ ｨｪｨｨ ｨｪｨｴｨｨｨｪｨ ｨｬ 09 RhD ｨｬ ｨｨ ｨｬ0603ｨｪ0609ｨｰｨｹ ｨｪｨｨｨｺｨｪ060902ｨｪｨｨ ｨｬ0605ｨｨｨｰｨｨ ﾂ0209ｨｺ06ｨｦ ｨ ｨｪｨｨ ｨ ｨｨ ｨｪ ｨｪｨｪ ｨｨｨｪ09ｨ 04ｨｨ09ｨｪｨ ｨｪｨ ｨｰｨ 05ｨｹｨｪｨ ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨ 07 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨ ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｦ 0102 ｨｬ02ｨｪ0202 ｨ ｨｺｨｰｨｮｨ 05ｨｹｨｪ04ｨｬ ｨｬ ｨｪｨ ｨｪｨ 09ｨｰ0607ｨｴｨｨｨｦ ｨｬ06ｨｬ02ｨｪｨｰ ｨｰ ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｦ ｨｪ06 ｨｪ0209ｨｺ0605ｨｹｨｺ06 ｨｬ060502ｨｺｨｮ050708ｨｪ ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｨ01 ｨｬ02ｨｰ , ｨｬ06ｨｴｨｹ06 ｨｺ06ｨｰ ｨｬ0603ｨｪ ｨｨｨｰｨｹ ｨｰ08ｨｨ0906ｨｬｨｨ ｨｬ060906ｨｬ 13, 18 ｨｨ ｨ ｨｪｨｪ0402 ｨｰ08ｨｨ0906ｨｬｨｨｨｨ ｨｪｨ ｨｨｨ ﾂｨ 09ｨｰ06 00ｨｨｨｺ09ｨｨ08ｨｮ06ｨｰ0907 ｨｮ 08ｨ 0409ｨｨ09ｨ 06ｨｴ ｨ ｨｨ 06ｨ ｨｮ ｨｨ09ｨ 06ｨｰ ｨｨ ｨｰｨｪ ｨｨｨｪ010806ｨｬ04, ｨ ｨｨｨｬ02ｨｪｨｪ06, 09ｨｨｨｪ010806ｨｬ 02ｨ ｨｮｨｪｨ (ｨｰ08ｨｨ0906ｨｬｨｨ07 21), 09ｨｨｨｪ010806ｨｬ ｨ ｨ (ｨｰ08ｨｨ0906ｨｬｨｨ07 18) ｨｨ 09ｨｨｨｪ010806ｨｬ 03ｨ ｨｰｨ ｨｮ (ｨｰ08ｨｨ0906ｨｬｨｨ07 13). 06ｨ ｨｺｨｨｨｬ 06ｨ 08ｨ 0406ｨｬ, 08ｨ 0408ｨ ｨ 06ｨｰｨｺｨ ｨｨ 09ｨｪ ｨｪｨｨ02 ｨｬ02ｨｰ ｨｬ060502ｨｺｨｮ050708ｨｪ ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ ｨｪｨｨ07 01ｨ ｨｪｨｪ ｨｬ060906ｨｬｨｪ0401 ｨ ｨ ｨ 02ｨｨｨｦ ｨｺ08ｨ ｨｦｨｪ02 09ｨ 03ｨｪ ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺ06ｨｦ 0708ｨ ｨｺｨｰｨｨｨｺｨｨ, ｨ ｨｮ ｨｪ ｨｨｨｬ02ｨｪ02ｨｪｨｨ02 ｨｬ02ｨｰ ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ ｨ 02ｨｰ ｨｬ0603ｨｪ0609ｨｰｨｹ ｨｰｨｨ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｮ 01ｨ 0302 ｨｮ ｨｰ ｨｪｨｴｨｨｨｪ, ｨｺ06ｨｰ ｨｮ 0708ｨｨ ﾂｨｨｨｪ 06ｨｰｨｺｨ ｨ 06ｨｰ ｨｰ ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ ｨｬ0203ｨ ｨｰ0205ｨｹ09ｨｰ09ｨ ｨｰ 0109ｨ 0609ｨｪ0609ｨｪ ｨ ｨｺ ｨ ｨｪｨ 05ｨｨ04ｨｮ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｪ ｨｺ0605ｨｨ ﾂ0209ｨｰ0902ｨｪｨｪ04ｨｦ ｨｨ 0609ｨｪ0609ｨ ｨｪｨｪ04ｨｦ ｨｪｨ ｨｨ ｨ ｨｪｨｨｨｨ 0601ｨｪ06ｨｪｨｮｨｺ050206ｨｰｨｨ01ｨｪ ｨｨｨｬ060800ｨｨ04ｨｬ0609 (SNP) ｨｬ02ｨｰ ｨｬ 0905ｨｮ ﾂｨ 02 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪｨ ｨ, ｨｪｨｪｨ 07 ｨｨ ｨ 04ｨｬ04 ｨｬｨ ｨｰ0208ｨｨ, 0902ｨｺ0902ｨｪｨｨ08ｨｮ02ｨｰ0907 ｨｨ 04ｨ ｨｰ02ｨｬ ｨｰ ｨｨｨｪｨ ｨｪ0609ｨｰｨｹ ｨｺｨ ｨｦ ｨｬ060502ｨｺｨｮ0504 ｨｺ ｨｰ06ｨｦ ｨｨ05ｨｨ ｨｨｨｪ06ｨｦ ｨｬ060906ｨｬ02 ｨｪｨ 0609ｨｪ0609ｨ ｨｪｨｨｨｨ 0908ｨ 09ｨｪ02ｨｪｨｨ ｨｪ09ｨｪ04ｨｬ 0002ｨｪ06ｨｬ06ｨｬ ﾂ ｨｺｨ ｨｨ ｨｮ ｨ 0209ｨｰｨｹ ｨｰ08ｨｨ0906ｨｬｨｨ ｨｺｨ ｨｺ06ｨｦ-ｨｪｨｨｨ ｨｮ01ｨｹ ｨｬ060906ｨｬ02, ｨｰ06 ｨｺ0605ｨｨ ﾂ0209ｨｰ0906 ｨｬ060502ｨｺｨｮ05 05ｨｰ06ｨｦ ｨｬ060906ｨｬ ｨｨ 0908ｨ 09ｨｪ02ｨｪｨｨｨｨ 09 01ｨｨ0906ｨｬｨｪ06ｨｦ ｨｪ09ｨｪ06ｨｦ ｨｬ060906ｨｬ06ｨｦ, ｨｰ0907 ｨ ｨｺｨｨｨｬ, ﾂ02ｨｬ 0708ｨｨ 05ｨｮ070506ｨｨ01ｨｪ0401 ｨ ｨｬ02ｨｪｨｪ0609ｨｰ ｨｰｨｨ ｨｪ0609ｨｰｨｹ 05ｨｰ06ｨｬｨｮ, ｨｬ02ｨｰ060104, 0609ｨｪ0609ｨ ｨｪｨｪ0402 ｨｪｨ ｨｨ ｨ ｨｪｨｨｨｨ SNP, ｨｰ ﾂｨｨ ｨｺ0607ｨｨｨｦ ｨｬ060906ｨｬ 07ｨｮｨｰ02ｨｬ 0706ｨｨ09ｨｺｨ ｨ ｨｹｨｪ ｨ 0405ｨｨ ﾂｨｨｨｦ [39]. 00 ｨｪｨ 09ｨｰ0607ｨｴｨｨｨｦ ｨｬ06ｨｬ02ｨｪｨｰ 09 05ｨｨｨｰ0208ｨ ｨｰｨｮ ｨｰｨｹ 01ｨ ｨｪｨｪ ｨｰ06ｨｬ, ﾂｨｰ06 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨ ｨ 09 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ 0708ｨｨ ｨｪｨ 05ｨｨ- ﾂｨｨｨｨ ｨｰ0201 ｨｨ05ｨｨ ｨｨｨｪ ｨｬ060906ｨｬｨｪ0401 ｨｪｨ 08ｨｮ0302ｨｪｨｨｨｦ ｨ ｨ 09ｨｰｨ 02ｨｰ. 06ｨ ｨｺ, ｨｪｨ 0708ｨｨｨｬ0208, 0706ｨｺｨ 04ｨ ｨｪ06, ﾂｨｰ ｨｨ 0904ｨｪｨ 03ｨｨ09ｨ ｨｪｨｨｨｨ ｨ 09 09ｨｨｨｪ010806ｨｬ06ｨｬ 02ｨ ｨｮｨｪｨ ｨ 04ｨｬ02 ｨｨ ｨｰｨｺ02 ｨｬｨ ｨｰ0208ｨｨ ｨｮ ｨｪｨｹ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ ｨ 02ｨｰ ｨｪ02ｨｬ ｨ 04ｨ [3]. 00 ｨｨ ｨ ｨｪｨｨｨｨ Y.M.D. Lo ｨ 09ｨｰ0608ｨ ｨｬｨｨ ｨ 0405ｨ ｨｪｨ ｨｺ0605ｨｨ ﾂ0209ｨｰ0902ｨｪｨｪｨ ｨｪｨ Y ｨｬ060906ｨｬｨｮ [32]. 08ｨｪｨ 05ｨｨ04ｨｨ080609ｨ 05ｨｨ 0705ｨ 04ｨｬｨｮ ｨｺ080609ｨｨ, ｨｰｨｮ06 ｨｮ 0302ｨｪｨｴｨｨｨｪ ｨｰ ｨｮ0707: 0302ｨｪｨｴｨｨｨｪ ｨ ｨｬｨｨ ｨｬｨｮ0309ｨｺ ｨ, ｨｨｨｬ0206ｨｴｨｨｨｬｨｨ ｨｰ08ｨｨ0906ｨｬｨｨ06 21; 0302ｨｪｨｴｨｨｨｪ 09 ｨｪ0608ｨｬｨ 05ｨｹｨｪ04ｨｬｨｨ ｨ ｨｬｨｨ ｨｬｨｮ0309ｨｺ ｨ ｨｨ 0302ｨｪｨｴｨｨｨｪ ｨ ｨｬｨｨ 0302ｨｪ09ｨｺ ｨ. 04ｨ ｨ 06ｨｰｨ ｨｪ0705ｨ 09ｨｹ ｨｮ01 ｨｪｨ ｨｮ ﾂｨｪ06-ｨｨ ｨ ｨｰ0205ｨｹ09ｨｺｨｨ ｨｪｨｰ08ｨ ｨｨ ｨ ｨｪｨｨｨｨ, ｨｪｨｪ06ｨｬ ｨｪｨｺ06ｨｪ0002, 0706ｨｺｨ 04ｨ ｨｪ06, ﾂｨｰ ｨｪｨｨ02 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨｨｨ ｨ, 02ｨｨ08ｨｺｨｮ05ｨｨ08ｨｮ06ｨｴ02ｨｦ 09 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ, ｨｮ 0302ｨｪｨｴｨｨｨｪ ｨｬ 09 ｨｰ08ｨｨ0906ｨｬｨｨ02ｨｦ 21 ｨｨ 05ｨｮ070506ｨｨ01ｨｪ04ｨｬ ｨｬ ｨｬｨｮ0309ｨｺ ｨ ｨｰｨ 09ｨｨ05ｨｨ 46,0 0002ｨｪ06ｨｬ-05ｨｺ09ｨｨ09ｨ 0502ｨｪｨｰ/ｨｬ05 ｨｨ 23,3 0002ｨｪ06ｨｬ-05ｨｺ09ｨｨ09ｨ 0502ｨｪｨｰ/ｨｬ ｨｰ0902ｨｰ09ｨｰ0902ｨｪｨｪ06 (p = 0,028) ｨｨ ｨ ｨｪｨｨｨｨ, ｨｺ06ｨｰ ｨ ｨｪ ｨｰ06ｨｪ02, ｨ ｨｪｨ ｨｨ ﾂｨｪ ｨｺｨ 04ｨ ｨｰ0205ｨｨ ｨｪ02ｨｬ ｨ 0405ｨｨ 08ｨ 09ｨｪ04 48,2 0002ｨｪ06ｨｬ-05ｨｺ09ｨｨ09ｨ 0502ｨｪｨｰ/ｨｬ05 ｨｨ 16,3 0002ｨｪ06ｨｬ-05ｨｺ09ｨｨ09ｨ 0502ｨｪｨｰ/ｨｬ05, ｨｰ0902ｨｰ09ｨｰ0902ｨｪｨｪ06 (p = 0,026). 01ｨｨ ｨｮ 0601ｨｪ06ｨｦ ｨｨ ｨｪｨｴｨｨｨｪ ISSN

4 01ｨ ｨｬｨｨ 0302ｨｪ09ｨｺ ｨ ｨｨ ｨ 04ｨｬ04 ｨｺ080609ｨｨ ｨｪ02 ｨ ｨ ｨｪｨ 08ｨｮ0302ｨｪ06 09ｨｨ00ｨｪｨ Y ｨｬ060906ｨｬ04. 08ｨ ｨｺｨｰ ｨｮ ﾂ02ｨｪｨｨ ｨｰｨ 09ｨｨｨｬ ｨｮ05ｨｹｨｰｨ ｨｰ ｨｨ ｨ ｨｪｨ 05ｨｨ ｨｮ ｨｮ050702ｨｨｨｦ ｪ 0106ｨｪｨｺ06ｨｪ00ｨ ｨｨ ｨｰ06ｨｪｨ ｪ ｨｰ ｨ 02ｨｰ ｨｪｨ ｨｪ0609ｨｰｨｹ ｨ ｨｪｨｪ ｨｨ 09 05ｨｰｨｨｨｬ, ｨ 09ｨｰ ｨ 00ｨ 06ｨｰ, ﾂｨｰ ｨｪｨｨ02 ｨｬ020305ｨ ｨ 0608ｨ ｨｰ0608ｨｪ0401 ｨｨ ｨ ｨｪｨｨｨｦ 09 ｨｨ ｨｹ040609ｨ ｨｪｨｨ02ｨｬ ｨ 05ｨｹｨｪ06ｨｬ ｨｬ02ｨｪｨｨ 0102ｨｬ06ｨｪ09ｨｰ08ｨｨ08ｨｮ02ｨｰ, ﾂｨｰ06 01ｨ ｨｪｨｪ04ｨｦ ｨｬ02ｨｰ ｨｰ0907 ｨｪｨ ｨｪ04ｨｬ ｨｨ ｨｨ ｨｨｨｬ04ｨｬ 0708ｨｨ ｨｨ ｨｹ040609ｨ ｨｪｨｨｨｨ ｨｺｨ ｨｺ ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｦ, ｨｰｨ ｨｺ ｨｨ ｨ ｨ ｨｨ ﾂ02ｨｪｨｨ02 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨｨｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ ｨ ｨｰｨｬ02 ﾂ02ｨｪ06 ｨｪ02 ｨｰ0605ｨｹｨｺ ｨｨ ｨｰ08ｨｨ0906ｨｬｨｨｨｨ 21, ｨｪ06 ｨｨ 0708ｨｨ 0108ｨｮ00ｨｨ01 ｨｪｨ 08ｨｮ0302ｨｪｨｨ0701 ｨｰ02 ﾂ02ｨｪｨｨ07 ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ, ｨｰｨ ｨｺｨｨ01, ｨｺｨ ｨｺ 09ｨ ｨｬ ｨｨ ｨｹｨｪ04ｨｦ 0904ｨｺｨｨ ｨｬ ｨｰ08ｨｨｨｬ0209ｨｰ0802, ｨｬ02ｨｪｨｪ [19], ｨｨ09ｨｰｨｨｨｪｨｪ ｨｨ08ｨ ｨｴ02ｨｪｨｨ ｨ 0202ｨｪｨｰ04, ｨｰ0604, ｨｬｨｪ ｨｨ02, 00ｨｨ ｨｬ0204ｨｨ09 [47]. 02ｨｰｨｬ02- ﾂ02ｨｪ06, ﾂｨｰ ｨｪｨｨ02 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨｨｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ ｨｪｨ 08ｨ ｨｪｨｪｨｨ ｨｺｨ 01 ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ ｨｬ060302ｨｰ 0905ｨｮ03ｨｨｨｰｨｹ ｨｬｨ 08ｨｺ020806ｨｬ ｨ ｨｪｨｪ02ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ ｨｪ02ｨｪｨｨｨｦ ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ [55]. 0201ｨｪｨｨｨｬ ｨｨ04 ｨｰｨ ｨｺｨｨ ｨｪ02ｨｪｨｨｨｦ ｨｬ060302ｨｰ ｨ 04ｨｰｨｹ ｨｺ05ｨ ｨｬ0709ｨｨ ｨｺｨ 04ｨ ｨｪ06, ﾂｨｰ ｨｨ ｨｺ05ｨ ｨｬ0709ｨｨｨｨ ｨ ｨ 09ｨｪ02ｨｪｨｨ06 09 ｨｪ0608ｨｬ06ｨｦ ｨｮ090205ｨｨ ﾂｨｨ09ｨ 02ｨｰ0907 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨ07 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ ｨｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨｬｨ ｨｰ0208ｨｨ. 05ｨｰ06ｨｨｨｰ 06ｨｰｨｬ02ｨｰｨｨｨｰｨｹ, ﾂｨｰ06 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨ07 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ 05ｨ 09ｨｹ ｨｰ0902ｨｰ09ｨｰ09ｨｨｨｨ 09 ｨｰ ｨｰｨｹ ｨｪ02ｨｪｨｨ07. 06ｨ ｨｺ ｨｰｨｬ02 ﾂ02ｨｪ06, ﾂｨｰ ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨ ｨ 09ｨｰｨ 05ｨ ｨｪｨｨ07 09ｨｨｨｬ07ｨｰ06ｨｬ ｨｺ05ｨ ｨｬ0709ｨｨｨｨ [56]. 06ｨ ｨｺｨｨｨｬ 06ｨ 08ｨ 0406ｨｬ, 0706 ｨｨ04ｨｬ02ｨｪ02ｨｪｨｨ06 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨｨｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ 09 ｨｺ ｨｰ06ｨｺ02 ｨｬｨ ｨｰ0208ｨｨ ｨｬ0603ｨｪ ｨｺｨ 04ｨ ｨｰｨｹ 05ｨｨｨ 06 01ｨｨｨ 00ｨｪ0609ｨｰｨｨ080609ｨ ｨｰｨｹ ｨｪ02ｨｪｨｨ07 ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ, 0601ｨｪｨ ｨｺ06 ｨｪ02 09ｨｰ06ｨｨｨｰ 04ｨ ｨ 0409ｨ ｨｰｨｹ, ﾂｨｰ06 ｨｪｨ ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨ06 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ 09 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ ｨｬ0600ｨｮｨｰ 06ｨｺｨ ｨ ｨｰｨｹ 0905ｨｨ07ｨｪｨｨ ｨｺ ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ ｨｨ, ｨｰ ｨｰｨｨ ﾂ0209ｨｺｨｨ, ｨ 09ｨｰ 0302ｨｪｨｴｨｨｨｪ ｨ ｨ 0608ｨ ｨｰ0608ｨｨｨｨ 02ｨｨｨｰ060002ｨｪ02ｨｰｨｨｨｺｨｨ ｨｬ0201ｨｨ02ｨｨｨｪ09ｨｺ06ｨｦ 0002ｨｪ02ｨｰｨｨｨｺｨｨ ｨｬ09ｨｺｨ 08ｨ ｨｪ0202 ｨ ｨｪ ｨｪ06 ｨｨ ｨｨｨｨ ｨｨ ｨ ｨｪｨｨｨｦ 0706 ｨ ｨｪｨ 05ｨｨ04ｨｮ ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨｨｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ 09 ｨｺ ｨｰ06ｨｺ02 ｨｬｨ ｨｰ0208ｨｨ 09 ｨｰ02 ﾂ02ｨｪｨｨ02 ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ [9] ｨｮ05ｨｹｨｰｨ ｨｰ04 08ｨ ｨ 06ｨｰ ｨｺｨ 04ｨ 05ｨｨ ｨｮ090205ｨｨ ﾂ02ｨｪｨｨ02 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨｨｨ ｨ 0601ｨｪ06 02ｨｨ08ｨｺｨｮ05ｨｨ08ｨｮ06ｨｴ02ｨｦ , ｨ ｨｰｨ ｨｺ ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨｬｨ ｨｰ0208ｨｨ, ｨ ｨｪｨｪ06ｨｦ 09 ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨｪ0609ｨｰｨｹ06, ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ. 0308ｨｨ 05ｨｰ06ｨｬ ｨ 0405ｨ ｨｪｨ ｨｰ02ｨｪ0102ｨｪ02ｨｨ07 ｨｺ 09ｨｪｨｨ0302ｨｪｨｨ06 ｨｬｨ ｨｰ0208ｨｨｨｪ09ｨｺ06ｨｦ ｨｨ ｨｪ06ｨｦ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ , ｨｪｨ ｨｴ02ｨｦ0907 ｨｪｨ ｨｪ0609ｨｰｨｨ ｨｺ0502ｨｰ06ｨｺ ｨｺ080609ｨｨ, 0906 II ｨｰ08ｨｨｨｬ0209ｨｰ0802 ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ. 08ｨｪｨ ｨｨ ﾂｨｪ ｨｺｨｰｨ ｨ 04ｨｬ02 ｨ ｨｬ02ｨｪｨｪ ｨｪｨｴｨｨｨｪ 06ｨ ｨｪｨ 08ｨｮ0302ｨｪ06 ｨｪ02 ｨ ｨ ｨｪｨｪ06ｨｬ ｨｨ ｨ ｨｪｨｨｨｨ ｨｪ02 ｨ ｨ ｨｪｨ 08ｨｮ0302ｨｪ ｨｨ ｨｬ020301ｨｮ ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨ02ｨｦ ｨ ｨ 04ｨｬ02 ｨｬｨ ｨｰ0208ｨｨ ｨｨ ｨｺ06ｨｬ ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ, ｨｪ0209ｨｬ06ｨｰ0807 ｨｪｨ ｨｰ06, ﾂｨｰ06 ｨｨｨｬ0206ｨｰ ｨ ｨｪｨｪ ｨｺ06ｨｬ ｨｮ090205ｨｨ ﾂ02ｨｪｨｨｨｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ 05ｨｨ03ｨｹ ｨｪｨｨ02 ｨｪ ｨｨ ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ ｨｨ ｨｨ [11]. ﾁｨｰ06 ｨｺｨ 09ｨ 02ｨｰ0907 ｨｨ04ｨｬ02ｨｪ02ｨｪｨｨ ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨｨｨ 09 04ｨ 09ｨｨ09ｨｨｨｬ0609ｨｰｨｨ 06ｨｰ ｨ 09ｨｰｨ ｨｬｨ ｨｰ0208ｨｨ, ｨｰ06 ｨｺ ｨｨｨｨ ｨｬ020301ｨｮ 05ｨｰｨｨｨｬｨｨ 0706ｨｺｨ 04ｨ ｨｰ020507ｨｬｨｨ ｨｪ06 ｨｪ02 ｨ ｨｰ ｨｹ ｨ 04 06ｨｰｨｬ02ｨｰｨｨｨｰｨｹ, ﾂｨｰ ｨｨｨｪｨｰ ｨｰｨ 02ｨｨｨｨ ｨｮ05ｨｹｨｰｨ ｨｰ0609 ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ ｨｪｨ ｨｰｨ 05ｨｹｨｪ06ｨｦ 0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ ｨｪ0206ｨ ｨｨｨｬ06 ｨｮ ﾂｨｨｨｰ0409ｨ ｨｰｨｹ 01ｨ ｨｪｨｪ0402, ｨｮ ﾂ02ｨｪｨｪ ｨｨ ｨ ｨｪｨｨ ｨｺ060502ｨ ｨ ｨｪｨｨ06 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨｨｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨｺ ｨｰ06ｨｺ02 ｨｬｨ ｨｰ0208ｨｨ. 00 ｨｨ ｨ ｨｪｨｨｨｨ T. Wataganara ｨ 09ｨｰ0608ｨ ｨｬｨｨ ｨ ｨｰｨｬ02 ﾂ02ｨｪ ｨ 09ｨｰｨ ｨｪｨｨ02 ｨｮ080609ｨｪ ｨ ｨ 09ｨｪ02ｨｪｨｨ06 09 ｨｪ0608ｨｬ06ｨｦ 09 ｨｺ080609ｨｨ 0302ｨｪｨｴｨｨｨｪ, 0904ｨｪｨ 03ｨｨ09ｨ 06ｨｴｨｨ ｨｰ08ｨｨ0906ｨｬｨｨ07ｨｬｨｨ 13 ｨｨ 21, ｨｪ ｨｰ08ｨｨ0906ｨｬｨｨｨｨ ｨ ｨｪ ｨｪｨｨ07 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨｨｨ 06ｨｰｨｬ02 ﾂ02ｨｪ06 ｨｪ02 ｨ [53] ｨ 09ｨｰｨ ｨｰｨｹ07 M.M. Gil c 0906ｨ 09ｨｰ0608ｨ ｨｬｨｨ, 09 ｨｺ06ｨｰ060806ｨｦ 0607ｨｨ09ｨ ｨｪ ｨｮ05ｨｹｨｰｨ ｨｰ ｨｪｨｪ ｨｬ02ｨｰｨ ｨ ｨｪｨ 05ｨｨ04ｨ 37 ｨｨ ｨ ｨｪｨｨｨｦ [21] ｨ ｨｪｨ 05ｨｨ04ｨｨ08ｨｮ02ｨｬ ｨ ｨ 06ｨｰ04 ｨ 0405ｨｨ 0607ｨｮｨ 05ｨｨｨｺ0609ｨ ｨｪ ｨｨ ｨｺｨ 09ｨ 05ｨｨ09ｨｹ ｨｨ ｨｹ040609ｨ ｨｪｨｨ07 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨｨ 09ｨｺ08ｨｨｨｪｨｨｨｪ0002 ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｦ ｨｮ ｨ. 0809ｨｰ ﾂｨｨ0905ｨｨ05ｨｨ 09ｨｮｨｬｨｬｨ 08ｨｪｨｮ06 ﾂｨ 09ｨｰ06ｨｰｨｮ 06ｨ ｨｪｨ 08ｨｮ0302ｨｪｨｨ07 ｨｨ ﾂｨ 09ｨｰ06ｨｰｨｮ ｨｮ ﾂ02ｨｪｨｨ ｨｪ ｨｨｨｰ0205ｨｹｨｪ ｨｮ05ｨｹｨｰｨ ｨｰ0609 (08ｨｨ09. 2). 0308ｨｨ 0601ｨｪ ｨｪ06ｨｦ ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ ｨｰ08ｨｨ0906ｨｬｨｨｨｨ 21 05ｨｰｨｨ 0706ｨｺｨ 04ｨ ｨｰ0205ｨｨ ｨｰｨ 09ｨｨ05ｨｨ 99,2% ｨｨ 0,09%, ｨｰ0902ｨｰ09ｨｰ0902ｨｪｨｪ06, ｨｰ08ｨｨ0906ｨｬｨｨｨｨ 18 ｪ 96,3% ｨｨ 0,13%, ｨｰ08ｨｨ0906ｨｬｨｨｨｨ 13 ｪ 91,0% ｨｨ 0,13%, ｨ ｨｬ06ｨｪ060906ｨｬｨｨｨｨ 09 ｪ 90,3% ｨｨ 0,23%, ｨｮ00ｨｨ01 ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｦ ｨｬ060906ｨｬ ｪ 93,0% ｨｨ 0,14%. 0308ｨｨ ｨ ｨｪｨ 05ｨｨ0402 ｨｬｨｪ ｨｪ0401 ｨ ｨｬ02ｨｪｨｪ0609ｨｰ02ｨｦ ｨｰ08ｨｨ0906ｨｬｨｨｨｨ 21 01ｨ ｨｪｨｪ ｨｺｨ 04ｨ ｨｰ0205ｨｨ ｨｰｨ 09ｨｨ05ｨｨ 93,7% ｨｨ 0,23%. 0809ｨｰ ｨ 00ｨ 06ｨｰ, ﾂｨｰ06 09ｨｺ08ｨｨｨｪｨｨｨｪ00 ｨｰ08ｨｨ0906ｨｬｨｨｨｨ ｨｨ ｨｹ040609ｨ ｨｪｨｨ02ｨｬ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨｨｨｰ ｨｮ05ｨｹｨｰｨ ｨｰｨｨ09ｨｪ0609ｨｰｨｨ ｨｨ ｨ ｨｪｨｨ04ｨｺ06ｨｦ ﾂｨ 09ｨｰ06ｨｰ ｨｪ ｨｨｨｰ0205ｨｹｨｪ ｨｮ05ｨｹｨｰｨ ｨｰ0609 ｨｰ08ｨ 01ｨｨ02ｨｨ06ｨｪｨｪ0402 ｨｬ02ｨｰ ｨｺ08ｨｨｨｪｨｨｨｪ00ｨ. 0201ｨｪｨ ｨｺ06 01ｨ ｨｪｨｪ ｨ ｨｺ0506 ﾂ02ｨｪｨｨ02 ｨｬ0603ｨｪ06 06ｨｰｨｪ0209ｨｰｨｨ ｨｪ02 ｨｺ ｨｬ 06ｨ 0604ｨｪｨ ﾂ02ｨｪｨｪ04ｨｬ ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨ07ｨｬ, ｨ ｨｰ0605ｨｹｨｺ06 05ｨｨ03ｨｹ ｨｺ ｨｪｨ 08ｨｮ0302ｨｪｨｨ06 ｨｺ0607ｨｨｨｦｨｪ0609ｨｰｨｨ ｨｬ060906ｨｬ ｨｰ06ｨｨｨｰ 09ｨｺｨ 04ｨ ｨｰｨｹ, ﾂｨｰ06 09 ｨｪｨ 09ｨｰ0607ｨｴｨｨｨｦ ｨｬ06ｨｬ02ｨｪｨｰ ｨｪｨｨ ｨｬ060906ｨｬｨｪ0401 ｨ ｨｪ06ｨｬｨ 05ｨｨｨｦ 07ｨｮｨｰ02ｨｬ ｨ ｨｪｨ 05ｨｨ04ｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ ｨｬ0603ｨｪ06 09 ﾂｨｨｨｰｨ ｨｰｨｹ ｨｦ ｨ 05ｨｹｨｰ0208ｨｪｨ ｨｰｨｨ0906ｨｦ ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ04ｨｬ ｨ ｨｬ. 0906ｨｰ07 ｨｪ02 09ｨｰ06ｨｨｨｰ 04ｨ ｨ 0409ｨ ｨｰｨｹ 06 ｨｰ06ｨｬ, ﾂｨｰ06 01ｨ 0302 ｨｬ02ｨｰ ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｦ, 08ｨ 0408ｨ ｨ ｨ ｨｰ0409ｨ 02ｨｬ0402 ｨｨ ｨｨ ｨｹ04ｨｮ02ｨｬ ｨｪｨ 09ｨｰ0607ｨｴ ｨｬ07, ｨｪ ｨ ｨｺｨｰｨｨ09ｨｪ04 ｨｨ ｨｨｨｬ0206ｨｰ ｨｪ0609ｨｰｨｹ. 00ｨ 0909ｨｨ09ｨｪ ｨ 08ｨ ｨｹｨｪ ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ ｨｪ06ｨｬｨ ｨ ｨｰ ﾂ02ｨｰｨ 01 06ｨ ｨｮ ｨｪ06ｨｬ ｨｪｨｨｨｨ ｨｰ08ｨｨ0906ｨｬｨｨｨｨ ｨｬ07 ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ 09 ｨｨ ｨｹ040609ｨ ｨｪｨｨ02ｨｬ ｨｬｨ 0909ｨｨ09ｨｪ ｨ 08ｨ ｨｹｨｪ ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ07 (Massive parallel sequencing / MPS) ｨ 0405ｨｨ ｨｨ0102ｨｪｨｰｨｨ00ｨｨ02ｨｨ080609ｨ ｨｪ04 ｨｨ ﾂｨｨｨｰｨ ｨｪ04 ｨｪ0209ｨｺ0605ｨｹｨｺ06 ｨｬｨｨ0505ｨｨ06ｨｪ ｨ 00ｨｬ02ｨｪｨｰ ｨｰ ｨｬ060906ｨｬ [18]. 0002ｨｰ060106ｨｬ ｨｬｨ 0909ｨｨ09ｨｪ ｨ 08ｨ ｨｹｨｪ ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ07 ｨｬ0603ｨｪ ｨｨｨｰｨｹ ｨｨ ｨｪｨｨ02 ｨｺｨ ｨｦ 0902ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｪ06ｨｦ ｨｬ060502ｨｺｨｮ ｨｨ ｨ 04ｨｬ04 ｨｬｨ ｨｰ0208ｨｨ ｨｨ 06ｨ ｨｪｨ 08ｨｮ03ｨｨｨｰｨｹ ｨｨ04ｨ 04ｨｰ06 ﾂｨｪｨｮ06 ｨｨ05ｨｨ ｨｪ ｨｰｨ ｨｰ06 ﾂｨｪｨｮ ｨｰｨ ｨｪｨｪ0609ｨｰｨｹ 0506ｨ 06ｨｦ ｨｬ060906ｨｬ ｨ 04ｨｬ02. S. Dan ｨ 09ｨｰ0608ｨ ｨｬｨｨ ｨ ｨｪ06 ｨｬｨ 0909ｨｨ09ｨｪ ｨ 08ｨ ｨｹｨｪ ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ ｨｬｨ ｨｰ0208ｨｨｨｪ09ｨｺ06ｨｦ 0705ｨ 04ｨｬ04 [14] ｨ ｨｪｨｨ02 09ｨｺ0506 ﾂｨ ｨ ｨｮ05ｨｹｨｰｨ ｨｰ ｨｪｨ ｨｰｨ 05ｨｹｨｪ ｨｰ0209ｨｰｨ ｨｪｨ ｨｰ08ｨｨ0906ｨｬｨｨｨｨ 21 ｨｨ 18, ｨｪｨｪ ｨｮ ｨ ｨｬ02ｨｪｨｪ ｨｪｨｴｨｨｨｪ ｨｬ0201ｨｨ02ｨｨｨｪ09ｨｺｨｨ ｨｪｨｰ08ｨ 01 04ｨ ｨ ｨ ｨｬ02ｨｪｨｪ0609ｨｰ02ｨｦ ｨｮ ﾂｨ 0209 ｨ 0405ｨｨ ｨｺ05ｨ 0909ｨｨ00ｨｨ02ｨｨ080609ｨ ｨｪ04 ｨｺｨ ｨｺ ｨｨｨｰ0205ｨｹｨｪ0402, ｨｨ04 ｨｪｨｨ ｨｮ ﾂｨ 07 ｪ 09 ｨｰ08ｨｨ0906ｨｬｨｨ02ｨｦ 21 ｨｨ 47 ｪ 09 ｨｰ08ｨｨ0906ｨｬｨｨ02ｨｦ ｨｨ ｨｪｨｨｨｨ MPS ｨｰ08ｨｨ0906ｨｬｨｨｨｨ 21 ｨ ｨｮ ﾂ02ｨｪ ｨｨｨｪ ｨｪ ｨｨｨｰ0205ｨｹｨｪ04ｨｦ ｨｮ05ｨｹｨｰｨ ｨｰ, ｨｰｨ ｨｺ 0302 ｨｺｨ ｨｺ ｨｨ ｨｰ08ｨｨ0906ｨｬｨｨｨｨ ｨ ｨｺｨｨｨｬ 06ｨ 08ｨ 0406ｨｬ, ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ ｨｰ0209ｨｰｨ ｨｰｨ 09ｨｨ05ｨ 100%, ｨ ｨｨ00ｨｨ ﾂｨｪ0609ｨｰｨｹ 06ｨ ｨｪｨ 08ｨｮ0302ｨｪｨｨ07 ｨｰ08ｨｨ0906ｨｬｨｨｨｨ 21 ｨｨ 18 ｪ 99,96%. 6

5 ｪ ｪ 0110 J.O. Kitzman ｨ 09ｨｰ0608ｨ ｨｬｨｨ ｨｨ 0902ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ ｨｪ06ｨｬ ｨｮ ｨｨｨｰ020502ｨｦ, ｨｪ060002ｨｪ06ｨｬｨｪ ｨ ｨｰｨｨ07ｨｨ080609ｨ ｨｪｨｨ02 ｨｬｨ ｨｰ0208ｨｨ ｨｨ 0005ｨｮｨ 06ｨｺ ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ02 ｨｬｨ ｨｰ0208ｨｨｨｪ09ｨｺ06ｨｦ 0705ｨ 04ｨｬ ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ ｨｪｨｨ ｨ ｨｰ0205ｨｹｨｪ0609ｨｰｨｨ 0002ｨｪ06ｨｬｨ ｨ ｨｪｨ 18,5 ｨｪ ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ [28] ｨ ｨｪｨ 08ｨｮ0302ｨｪ06 39 ｨｨ04 44 ｨｰ06 ﾂ02 ﾂｨｪ0401 ｨｬｨｮｨｰｨ 02ｨｨｨｦ de novo, 0601ｨｪｨ ｨｺ06 ｨｪｨ ｨ ｨ 05ｨ 09ｨｹ ﾂ ﾂｨ ｨｦｨｪ06 ｨｪｨｨ04ｨｺｨ ｨｨ00ｨｨ ﾂｨｪ0609ｨｰｨｹ ｨｨ 09 ｨｪｨ 05ｨｨ ﾂｨｨ02ｨｬ ｨｪ ｨｨｨｰ0205ｨｹｨｪ ｨｮ05ｨｹｨｰｨ ｨｰ ｨ ｨ 06ｨｰ02 ｨ ｨｨｨｬ02ｨｪ02ｨｪ ｨｨ05ｨｹｨｰ080609, ｨｨ0903ｨｨ01 ｨｮ090205ｨｨ ﾂｨｨｨｰｨｹ ｨｨ00ｨｨ ﾂｨｪ0609ｨｰｨｹ 0708ｨ ｨｺｨｰｨｨ ﾂ0209ｨｺｨｨ ｨ ｨ ｨｪｨ 05ｨｨ04ｨ 09ｨｰ060806ｨｦ 0902ｨｬｨｹｨｨ ｨｪｨｨ05ｨｨ, ﾂｨｰ ｨｪ ｨｰｨ ｨｰ06 ﾂｨｪ ｨ ｨｪ0609ｨ ｨｪｨｨｨｦ ｨｨｨｰ0205ｨｹ09ｨｺｨｨ01 00ｨ ｨｰｨｨ07ｨｪ0401 ｨ 0506ｨｺ ﾂ02ｨｰｨ ｨｪｨｨｨｨ 09 ｨｬ0205ｨｺｨｨｨｬｨｨ ｨ ｨｰ0205ｨｹｨｪ0609ｨｰ07ｨｬｨｨ ｨｬｨ ｨｰ0208ｨｨｨｪ09ｨｺ06ｨｦ 0705ｨ 04ｨｬ02, ｨｰ060006, ﾂｨｰ06ｨ ｨｪｨ ﾂｨｨｨｰ0205ｨｹｨｪ06ｨｦ 09ｨｰ020702ｨｪｨｨ ｨｰｨｹ ｨｮｨｪｨ ｨ ｨｪｨｪ04ｨｦ ｨｺ06ｨｬ0706ｨｪ02ｨｪｨｰ ｨｨｨｰ0205ｨｹ09ｨｺ ｨｪ06ｨｬｨ ｨｪ06ｨｬ ｨ ｨ ｨｰ0205ｨｨ ｨ 00ｨ 06ｨｰ, ﾂｨｰ06 ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ04ｨｦ ｨ ｨｪｨ 05ｨｨ04 ｨｪｨ ｨｰ0902ｨｪｨｪ0401 ｨｨ04ｨｬ02ｨｪ02ｨｪｨｨｨｦ ｨｨ ｨｬｨｮｨｰｨ 02ｨｨｨｦ, ｨｪｨｨｨｺｨ 06ｨｴｨｨ01 de novo, ｨ ｨｮ0102ｨｰ ｨｦ09ｨｰ090609ｨ ｨｰｨｹ 08ｨ 0409ｨｨｨｰｨｨ ｨｪｨ ｨｰｨ 05ｨｹｨｪ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ ｨｺｨ ｨｺ ｨｨ09ｨｪ0401, ｨｰｨ ｨｺ ｨｨ 0106ｨｬｨｨｨｪｨ ｨｪｨｰｨｪ0401 ｨｬ02ｨｪ010205ｨｨ08ｨｮ06ｨｴｨｨ01 04ｨ ｨ ｨ ｨｪｨｨｨｦ. 0207ｨｨ09ｨ ｨｪ ｨｰ0201ｨｪ ｨｨｨｨ MPS, ｨｺ06ｨｰ ｨｬ0600ｨｮｨｰ ｨｰｨ ｨｰｨｹ ｨｨｨｪｨｰ ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺ ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ07 ｪ MPSS (Massive parallel signature sequencing) ｨｨ DANSR (Digital Analysis of Selected Regions). 06ｨｰｨｨｨｬｨｨ ｨｬ02ｨｰ0601ｨ ｨｬｨｨ ｨｬ0603ｨｪ ｨｰｨｨ ｨ 08ｨｨｨｰ0205ｨｹｨｪ04ｨｦ 06ｨｰｨ ｨｬ060906ｨｬ ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ, ﾂｨｰ06 09ｨｪｨｨ03ｨ 02ｨｰ ｨｺ0605ｨｨ ﾂ0209ｨｰ0906 ｨｪ02ｨｨ ｨｹ04ｨｮ02ｨｬ ｨ ｨｪｨｪ ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ ｨｰ060006, ｨｬ060302ｨｰ ｨ 04ｨｰｨｹ ｨｨ ｨｹ040609ｨ ｨｪ06 ｨ 0409ｨｰ ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ02 ｨｪ ｨｺ060502ｨｪｨｨ07 (rapid next-generation sequencing), ﾂｨｰ06 ｨｮｨｬ02ｨｪｨｹ03ｨｨｨｰ 00ｨｨｨｪｨ ｨｪ ｨ ｨｰ08ｨ ｨｰ04, ｨｬ07 06ｨ 08ｨ ｨ 06ｨｰｨｺｨｨ ｨｨ ｨｮ090205ｨｨ ﾂｨｨｨｰ ｨｺ0605ｨｨ ﾂ0209ｨｰ ｨ 02ｨｨ02ｨｪｨｰ0609, ｨｺ06ｨｰ ｨｬ0603ｨｪ06 06ｨ ｨ ｨｰｨｹ 09 ｨｰ02 ﾂ02ｨｪｨｨ02 ｨｪ ｨｨ. 0201ｨｪｨｨｨｬ ｨｨ04 ｨｰｨ ｨｺｨｨ01 ｨｬ02ｨｰ ｨｰ ｨｨ ｨｦ ｨ ｨｪｨ 05ｨｨ ｨ 08ｨ ｨｪｨｪ ｨ 05ｨ 09ｨｰ02ｨｦ DANSR, 0708ｨｨ ｨｺ06ｨｰ060806ｨｬ 0904ｨ 08ｨ ｨｪｨｪ0402 ｨｪ ｨｨｨｬ060800ｨｪ ｨｺｨｮ0904 ｨｪｨ ｨｬ060906ｨｬｨ 01, ｨｰｨ ｨｴｨｨ01 ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺｨｨｨｦ ｨｨｨｪｨｰ , ｨ ｨｪｨ 05ｨｨ04ｨｨ08ｨｮ06ｨｰ0907 ｨｺ0605ｨｨ ﾂ0209ｨｰ0902ｨｪｨｪ06 ｨｨ 0601ｨｪ ｨｬ02ｨｪｨｪ ｨｨ 05ｨｰ06ｨｬ 0609ｨｮｨｴ0209ｨｰ ｨｰ ｨｺｨｰｨｨ09ｨｪ ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ ｨｺｨｮ ｨｨ ｨｮ02ｨｬ ｨｬ060906ｨｬ, ｨｰ02ｨｬ 09ｨ ｨｬ04ｨｬ ｨｮ090205ｨｨ ﾂｨｨ09ｨ ｨｨ ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ ｨｨ 09ｨｪｨｨ03ｨ 07 09ｨｰ06ｨｨｨｬ0609ｨｰｨｹ ｨｰ0209ｨｰｨｨ080609ｨ ｨｪｨｨ07 [48] ﾂ ｨｹ, MPSS ｨｰｨ ｨｰ 0906ｨ 06ｨｦ 08ｨ ｨｪ0106ｨｬｨｨ04ｨｨ080609ｨ ｨｪｨｪ04ｨｦ ｨ ｨｪｨ 05ｨｨ04 ｨｬｨｨ0505ｨｨ06ｨｪ ｨ 00ｨｬ02ｨｪｨｰ ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ. 06ｨｰ06 ｨｰ0201ｨｪ ｨｨ ｨｪ0609ｨ ｨｪｨ ｨｪｨ 0902ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨｨｨ ｨｺ060806ｨｰｨｺｨｨ ｨｬ02ｨｪｨｰ ｨｪ06ｨｦ ｨｨ04 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ ｨｨ 06ｨｰ ｨ ｨｮ06ｨｴｨｨｨｬ 08ｨ ｨｪｨｨ02ｨｬ ｨｨ ｨｬ060906ｨｬｨ ｨｬ. 06ｨ ｨｺ06ｨｦ ｨｨ ｨｹ04ｨｮ06ｨｰ, ｨｺ060001ｨ ｨｪ0206ｨ ｨｨｨｬ ｨｰｨｨ ｨ ｨｪｨ 05ｨｨ04 ｨ 0605ｨｹ ﾂｨｨ0905ｨ 0008ｨ 00ｨｬ02ｨｪｨｰ ｨｪｨ ｨ ｨｮ. 02ｨ ｨｪｨｪ04ｨｦ ｨｬ06ｨｪ09ｨｰ08ｨｨ08ｨｮ02ｨｰ 06ｨｰｨｪ0609ｨｨｨｰ0205ｨｹｨｪ ｨｺｨｮ06 ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ ｨｨ 100%-ｨｪｨｮ ｨｨ00ｨｨ ﾂｨｪ0609ｨｰｨｹ. 00 ｨｺｨ ﾂ0209ｨｰ ｨｨｨｬ0208ｨ ｨｬ0603ｨｪ ｨｨ090209ｨｰｨｨ 08ｨ ｨ 06ｨｰｨｮ D.W. Bianchi ｨ 09ｨｰ0608ｨ ｨｬｨｨ [10]. 00 ｨｨ ｨ ｨｪｨｨｨｨ ｨｨ ｨ ｨｪｨ 05ｨｨ ｨ ｨｨ 0708ｨ 09ｨｨ05ｨｹｨｪ06 ｨｺ05ｨ 0909ｨｨ00ｨｨ02ｨｨ080609ｨ ｨｪ04: 89 ｨｨ04 89 ｨｰ08ｨｨ0906ｨｬｨｨｨｦ ｨｬ060906ｨｬ02 21 ( ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ 100%), 35 ｨｨ04 36 ｨｰ08ｨｨ0906ｨｬｨｨｨｦ 18 ( ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ 97,2%), 11 ｨｨ04 14 ｨｰ08ｨｨ0906ｨｬｨｨｨｦ 13 ( ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ 78,6%). 06ｨ ｨｺ0302 ｨ 0405 ｨｺ ｨｺｨｰｨｪ ｨｪ ｨｨ ｨｬｨ 08ｨｨ06ｨｪ ｨｪ09ｨｺ ｨ ( ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ 99,6%) ｨｨ 184 ｨｨ ｨｬｨ 08ｨｨ06ｨｪ0609 ｨｬｨｮ0309ｨｺ ｨ ( ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ 100%). 0308ｨｨ 05ｨｰ06ｨｬ ｨ ｨｪ06 15 ｨｨ ｨｮ ﾂｨ 0209 ｨｬ06ｨｪ060906ｨｬｨｨｨｨ 09, ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ 93,8% ｨ ｨｪｨｪ06ｨｦ 08ｨ ｨ 06ｨｰ ｨｨ ｨ ｨｪｨ 05ｨｨ0402 ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｦ ｨ ｨｮｨｰ060906ｨｬ ｨｪ02 ｨ ｨ 00ｨｨｨｺ09ｨｨ080609ｨ ｨｪ06 ｨｪｨｨ 0601ｨｪ ｨｪ ｨｨｨｰ0205ｨｹｨｪ ｨｮ05ｨｹｨｰｨ ｨｰｨ, ｨｰｨ ｨｺｨｨｨｬ 06ｨ 08ｨ 0406ｨｬ, ｨｨ00ｨｨ ﾂｨｪ0609ｨｰｨｹ ｨｰ0209ｨｰｨ ｨｰｨ 09ｨｨ05ｨ 100%. 05ｨｰ06ｨｨｨｰ 06ｨｰｨｬ02ｨｰｨｨｨｰｨｹ, ﾂｨｰ06 ｨｰｨ ｨｺｨｨ02 ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｨ ｨｬ060906ｨｬ, ｨｺｨ ｨｺ 47,090909, 47,0909Y ｨｨ 47,09YY ｨｰｨ ｨｺ0302 ｨ 0405ｨｨ ｨｪ06 01ｨｨｨ 00ｨｪ0609ｨｰｨｨ080609ｨ ｨｪ ｨｨｨｪｨｨ ﾂ0209ｨｺｨｨ02 ｨｨ ｨ ｨｪｨｨ ｨｺｨ 04ｨ 05ｨｨ, ﾂｨｰ06 ｨｨ MPSS, ｨｨ DANSR ｨｬ0600ｨｮｨｰ 09 ｨｮ ｨｬ 0708ｨｨｨｬ02ｨｪ07ｨｰｨｹ ｨｺ ｨｺｨｰｨｨ09ｨｪ ｨｺ08ｨｨｨｪｨｨｨｪ00ｨ ｨｰ08ｨｨ0906ｨｬｨｨｨｨ ｨｬ060906ｨｬ 21 ｨｨ 18 ｨｨ, 09 ｨｬ02ｨｪｨｹ0302ｨｦ 09ｨｰ020702ｨｪｨｨ, ｨｰ08ｨｨ0906ｨｬｨｨｨｨ ｨｬ060906ｨｬ04 13 ｨｮ 0302ｨｪｨｴｨｨｨｪ 0008ｨｮ ｨｺ ｨｨ09ｨｺｨ [38]. 04ｨｨ ｨｮ05ｨｹｨｰｨ ｨｰ04 ｨｬ02ｨｰｨ ｨ ｨｪｨ 05ｨｨ04ｨ 37 ｨｨ ｨ ｨｪｨｨｨｦ 0706 ｨｨ ｨｹ040609ｨ ｨｪｨｨ06 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｦ ｨ 0708ｨｨ 0601ｨｪ ｨｪ06ｨｦ ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ [21] ｨ ｪ ﾂｨ 09ｨｰ06ｨｰｨ 06ｨ ｨｪｨ 08ｨｮ0302ｨｪｨｨ07 08ｨ 0405ｨｨ ﾂｨｪ0401 ｨｰｨｨ ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｦ ｨ 09ｨ ｪ ﾂｨ 09ｨｰ06ｨｰｨ ｨｪ ｨｨｨｰ0205ｨｹｨｪ ｨｮ05ｨｹｨｰｨ ｨｰ ｨｨ ｨ ｨｪｨ 05ｨｨ0402 ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｦ. ISSN

6 0208ｨｮ00ｨｨ02 ｨｬ060502ｨｺｨｮ050708ｨｪ ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｨ02 ｨｬ02ｨｰ ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ ｨｪｨ ｨｰｨ 05ｨｹｨｪ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺｨｨ 0805ｨｹｨｰ0208ｨｪｨ ｨｰｨｨ0906ｨｦ MPSS ｨｨ DANSR ｨｰ0907 ｨｬ02ｨｰ0601, ｨｪｨｪ04ｨｦ G.J. Liao ｨ 09ｨｰ0608ｨ ｨｬｨｨ [29]. 02ｨｪ 0609ｨｪ0609ｨ ｨｪ ｨｪｨ ｨ ｨｪｨ 05ｨｨ0402 SNP ｨｨ 09ｨｺ0506 ﾂｨ 02ｨｰ ｨ 07 ｨｰｨ ｨｰｨｪｨｮ06 ｨ ｨｬ0705ｨｨ00ｨｨｨｺｨ 02ｨｨ06 ｨｨ ｨ ｨｪｨ 05ｨｨ ｨｨ05ｨｨ SNPs ｨｪｨ ｨｬ060906ｨｬｨ 01 21, 18, 13, X, ｨｨ Y ｨｪ06ｨｦ 0802ｨ ｨｺ02ｨｨｨｨ ｨｪｨ ﾂｨ 05ｨｹｨｪ06 ｨ ｨ ｨｪｨ 05ｨｨ04ｨｨ080609ｨ ｨｪ06 05ｨｰｨｨｨｬ ｨｬ02ｨｰ060106ｨｬ 05ｨｨ03ｨｹ ｨｨｨｬ060800ｨｪ ｨｺｨｮ090609, 04ｨ ｨｰ02ｨｬ B. Zimmermann ｨ 09ｨｰ0608ｨ ｨｬｨｨ ｨｨ ｨ ｨｪｨ 05ｨｨ SNP, 0601ｨｪｨ ｨｺ ｨｨ05ｨ 09ｨｹ ｨｬ0603ｨｪ0609ｨｰｨｹ ｨｮ090205ｨｨ ﾂｨｨｨｰｨｹ ｨｺ0605ｨｨ ﾂ0209ｨｰ0906 ｨ ｨｪｨ 05ｨｨ04ｨｨ08ｨｮ02ｨｬ ｨｪ06ｨｪｨｮｨｺ050206ｨｰｨｨ01ｨｪ ｨｨｨｬ060800ｨｨ04ｨｬ [29, 39, 57] ｨｹ040609ｨ ｨｪｨｨ02 SNP ｨｬ060302ｨｰ ｨｮｨｬ02ｨｪｨｹ03ｨｨｨｰｨｹ 09ｨ 08ｨｨｨ ｨ 0205ｨｹｨｪ0609ｨｰｨｹ ｨ ｨｬ0705ｨｨ00ｨｨｨｺｨ 02ｨｨｨｨ 06ｨｰ ｨｬ060906ｨｬ04 ｨｺ ｨｬ060906ｨｬ02, ｨｪ ｨｨ 05ｨｰ06ｨｬ 09ｨｮｨｴ0209ｨｰ09ｨｮ02ｨｰ ｨｪ0206ｨ ｨｨｨｬ0609ｨｰｨｹ ｨｪｨ 05ｨｨ ﾂｨｨ07 05ｨｰｨ 0506ｨｪｨｪ06ｨｦ ｨｬ060906ｨｬ04 [26, 57]. K.H. Nicolaides ｨ 09ｨｰ0608ｨ ｨｬｨｨ ｨｰｨ 09ｨｨ05ｨｨ ｨ 06ｨｦ ｨｹ ｪ ｨｪｨｨｨｰｨｹ ｨｬ0603ｨｪ0609ｨｰｨｨ ｨｬ02ｨｰ0601ｨ, 0609ｨｪ0609ｨ ｨｪｨｪ ｨｪｨ ｨｨ ｨ ｨｪｨｨｨｨ SNP ﾂ02ｨｰｨ ｨｪｨｨｨｨ 09 ｨ ｨｨｨｰｨｬ06ｨｬ, ｨｪｨ ｨ 02ｨｬ04ｨｬ NATUS (Next-generation Aneuploidy Test Using SNPs), ｨ ｨｪｨ 08ｨｮ0302ｨｪｨｨ07 ｨｰ08ｨｨ0906ｨｬｨｨｨｨ ｨｬ060906ｨｬ 21, 18 ｨｨ 13, ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｦ ｨｬ060906ｨｬ ｨｨ ｨｰ08ｨｨ070506ｨｨ01ｨｨｨｨ 09 06ｨ 08ｨ 0402ｨ 01 ｨｬｨ ｨｰ0208ｨｨｨｪ09ｨｺ06ｨｦ ｨｺ080609ｨｨ [39] ｨｨｨｰｨｬ NATUS ｨｨｨｬ0202ｨｰ ｨｰ05ｨｨ ﾂｨｨｨｰ0205ｨｹｨｪ0401 ﾂ0208ｨｰ. 00 ｨｪ02ｨｬ ｨｨ ｨｹ04ｨｮ02ｨｰ0907 ｨｨｨｪ000608ｨｬｨ 02ｨｨ07 06 ｨｬｨ ｨｰ0208ｨｨｨｪ09ｨｺ06ｨｬ 0002ｨｪ06ｨｰｨｨ0702 ｨｨ ﾂｨ 09ｨｰ06ｨｰ ｨｺ06ｨｬｨ ｨｨｨｪｨ 02ｨｨｨｨ ｨｰ080602ｨｪｨｨ07 in silico ｨｬｨｨ0505ｨｨｨ ｨｬ0603ｨｪ ｨｪ06ｨｰｨｨ ｨ, ﾂ ｨｺｨ 0301ｨ 07 ｨｨ ｨｮ ﾂ02ｨｪｨｪ ｨｨ0706ｨｰ ｨ 09ｨｪｨｨ09ｨ 02ｨｰ ｨ ｨｺｨｰｨｨ ﾂ0209ｨｺｨｨｨｬｨｨ ｨｨ04ｨｬ020802ｨｪｨｨ07ｨｬｨｨ ｨｨ, ｨｰｨ ｨｺｨｨｨｬ 06ｨ 08ｨ 0406ｨｬ, 0904 ﾂｨｨ ｨｰ ｨｰｨｪ0609ｨｨｨｰ0205ｨｹｨｪｨ ｨｰｨｪ0609ｨｰｨｹ ｨｺｨ ｨｦ 00ｨｨ0706ｨｰ ｨｨ 09 ｨｰ02ｨｬ, ﾂｨｰ06 01ｨ ｨｪｨｪ04ｨｦ ｨｬ02ｨｰ ｨｰ ｨ ｨｪｨ 05ｨｨ04ｨｨ080609ｨ ｨｰｨｹ ｨ ｨｹｨｪ ｨ ｨｪｨｨ02 ｨｨ ｨｪ02 ｨｰ0802ｨ ｨｮ02ｨｰ ｨｨ ｨｹ040609ｨ ｨｪｨｨ07 01ｨｨ0906ｨｬｨｪ06ｨｦ ｨｪ09ｨｪ06ｨｦ ｨｬ060906ｨｬ04, 0603ｨｨ01ｨ 02ｨｰ0907, ﾂｨｰ06 06ｨｪ 0601ｨｪ0604ｨｪｨ ﾂｨｪ06 ｨ ｨｮ0102ｨｰ ｨ 02ｨｪ 06ｨ ｨｪｨ 08ｨｮ03ｨｨ09ｨ ｨｰｨｹ ｨｰ08ｨｨ070506ｨｨ01ｨｨｨｨ. 0208ｨｮ0006ｨｦ ｨｬ02ｨｰ ｨ 04ｨｮｨｬ0209ｨ 02ｨｰ ｨｪｨｨｨｰ0205ｨｹｨｪ04ｨｦ ｨ ｨｪｨ 05ｨｨ ｨｨｨｰ0205ｨｹ09ｨｺ06ｨｦ ｨｨ 05ｨｰ06ｨｬ ｨｪｨ ｨ ｨ 02ｨｬ ｨ ｨｪｨｨ02 ｨ ｨｦ ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ ｨｨｨｬ060800ｨｪ ｨｺｨｮ ｨｬ060906ｨｬ, ｨｰｨ ｨｴｨｨ01 ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺｨｨｨｦ ｨｨｨｪｨｰ , ｨｰｨ ｨｰ ｨｨ01ｨ 02ｨｬ04ｨｬ 08ｨ ｨｪｨｨ02ｨｬ ｨ ｨｦ ｨｪｨ 0609ｨｪ0609ｨ ｨｪｨｨｨｨ ｨｨｨｰ0205ｨｹ09ｨｺｨｨ ｨｪ06ｨｰｨｨ [57]. 05 ｨｮ ﾂ02ｨｰ06ｨｬ ｨｨ ｨｰｨｪ ｨｨ0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｨ01 08ｨ 0405ｨｨ ﾂｨｨｨｦ ｨｬ020301ｨｮ ｨｬｨ ｨｰ0208ｨｨｨｪ09ｨｺ06ｨｦ ｨｨ ｨｪ06ｨｦ , ｨ ｨｪ ｨｪｨｨ ｨｬ060906ｨｬ ｨ [42]. 00 ｨｪｨ 09ｨｰ0607ｨｴ ｨｬ07 ｨ ｨｺｨｰｨｨ09ｨｪ ｨｮｨｰ ｨ ｨ 06ｨｰ ｨｮ ｨｪ09ｨｰ090609ｨ ｨｪｨｨ06 ｨｬ060502ｨｺｨｮ050708ｨｪ ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｨ01 ｨｬ02ｨｰ , ｨｨ ｨｹ04ｨｮ02ｨｬ ｨｪｨｨ02 ｨｬ02ｨｰ0601ｨｨ ﾂ0209ｨｺｨｨ02 08ｨ 0408ｨ ｨ 06ｨｰｨｺｨｨ 09 05ｨｰ06ｨｦ 06ｨ 05ｨ 09ｨｰｨｨ ｨｨ ｨ ｨ 0608ｨ ｨｰ0608ｨｪ ｨｪｨ ｨｴ02ｨｪｨｨ02 ｨ 0605ｨｹ ﾂｨｨ0905ｨ ｨｺ05ｨｨｨｪｨｨｨｺ ｨｬｨｮ ｨｬｨｨ08ｨｮ ｨｰ 0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｮ ｨ ｨｺｨ ﾂ0209ｨｰ0902ｨｪｨｪ06ｨｦ ｨｨ ｨｺｨｰｨｨ09ｨｪ06ｨｦ. 0202ｨｰ02ｨｺ02ｨｨ ｨｰ08ｨ ｨｪ09ｨｺ08ｨｨ07ｨｰ0609, ｨｨ00ｨｨ ﾂｨｪ ｨｪｨｪ0401 ｨｰ08ｨｨ0906ｨｬｨｨｨｦ 00 08ｨ ｨ 06ｨｰ02 A.T. Go ｨ 09ｨｰ0608ｨ ｨｬｨｨ 0708ｨｨ090601ｨｨｨｰ ｨｰｨ ｨｰ06 ﾂｨｪ ｨｪ04ｨｦ 06ｨ ｨｨ ｨ ｨｪｨｨｨｦ, ｨｺｨ 09ｨ 06ｨｴｨｨ ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ, 0708ｨｨ09ｨｮｨｰ09ｨｰ09ｨｮ06ｨｴ02ｨｦ 09 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ [25] ｨｪｨｹ 05ｨｺ ｨｨｨｨ ｨｨ 02ｨｨ08ｨｺｨｮ050702ｨｨｨｨ ｨｬ060502ｨｺｨｮ ｨｪｨ ｨｬｨｪ , ﾂ02ｨｬ ｨｮ ｨｪ06ｨｦ , ｨｪ06 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨ07 08ｨ 0405ｨｨ ﾂｨ 02ｨｰ ｨｰ010205ｨｹｨｪ ｨｪ ｨｪｨ ｨｺ ｨｪｨｨ ｨｰｨ ｨｰ0907 ｨｰ0201ｨｪｨｨ ﾂ0209ｨｺｨｨ ｨ ｨｪ04ｨｬ ｨｬ. 05ｨｮｨｴ0209ｨｰ09ｨｮ06ｨｰ ｨｰｨ ｨｺ0302 ｨｨ ｨｰｨｺｨ ｨｪ ｨｨ00ｨｨ ﾂｨｪ ｨ 0405ｨｨ- ﾂｨｨ ｨｺ ｨｨｨｨ ｨｰ ｨｨ05ｨｨ ｨｨｨｪ ｨｪｨ, ｨｬｨｨ08ｨｮ06ｨｴｨｨ02 01ｨ 08ｨ ｨｺｨｰ0208ｨｪ04ｨｦ ｨｨ05ｨｹ ｨｬ ｨｪｨ 07 ｨｬ ｨｬ060302ｨｰ ｨ 04ｨｰｨｹ 0706ｨｰ02ｨｪ02ｨｨｨ 05ｨｹｨｪ04ｨｬ ｨ ｨｨ06ｨｬｨ 08ｨｺ020806ｨｬ ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ ｨ ｨｪｨ 08ｨｮ0302ｨｪｨｨ07 ｨ ｨｪ02ｨｮ070506ｨｨ01ｨｨｨｦ ｨｬ07 ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ ｨｺｨ 04ｨ ｨｰ0205ｨｹ09ｨｰ ｨｨ09ｨｮｨｰ09ｨｰ09ｨｨ07 ｨｬ ｨ ｨ ｨｬ06ｨｪ09ｨｰ08ｨｨ080609ｨ ｨｪ06 L.L. Poon ｨ 09ｨｰ0608ｨ ｨｬｨｨ ｨｬ06ｨｴｨｹ06 ｨｬ ｨ 0205ｨｺｨ 02ｨｨｨｪｨｺ ｨ 05ｨｹ02ｨ (0002ｨｪ ｨｺｨ 08ｨｰｨｨ080609ｨ ｨｪ ｨｪｨ Y ｨｬ060906ｨｬ02) [43] ｨｰ09ｨｨｨｨ ｨ ｨｺｨ 04ｨ ｨｪ ｨｨ09ｨｮｨｰ09ｨｰ09ｨｨ02 ｨｬ ｨ 09 ｨｺ080609ｨｨ ｨ ｨｬ02ｨｪｨｪ ｨｪｨｴｨｨｨｪ 0708ｨｨ ｨ ｨｪｨ 05ｨｨ ｨ 0202ｨｪｨｰ ｨｨ00ｨｨ ﾂ0209ｨｺ06ｨｦ ｨｬ ﾂ ﾂ0209ｨｺ ｨ 0202ｨｪｨｰｨ 08ｨｪ ｨ ｨｺｨｰ060002ｨｪｨ (hpl) ｨｨ ｨｬ ｨｮｨ ｨｲ0201ｨｨｨｪｨｨ0204 ﾂ ﾂ0209ｨｺ ｨ 0202ｨｪｨｰｨ 08ｨｪ ｨｨ06ｨｪｨｨ- ﾂ0209ｨｺ ｨｪｨ 0106ｨｰ080607ｨｨｨｪｨ (1 7-hCG) [37] ｨｬ06ｨｪ09ｨｰ08ｨｨ080609ｨ ｨｪｨ 09ｨｰｨ ｨ ｨｨ05ｨｹｨｪ0609ｨｰｨｹ 0708ｨｨ09ｨｮｨｰ09ｨｰ09ｨｨ ｨ 0202ｨｪｨｰｨ 08ｨｪ06ｨｦ ｨｬ ｨ 04ｨｬ02 ｨｬｨ ｨｰ0208ｨｨ ｨｨ ｨｪ04 ｨｨ ｨ ｨｪｨｨ ｨｨ0502ｨｦ 05ｨｺ ｨｨｨｨ 0002ｨｪ ｨ 0202ｨｪｨｰｨ 08ｨｪ0401 ｨｰｨｺｨ ｨｪ0701 ｨｨ ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ ｨｬ ｨｨ ｨｰ0802ｨｰｨｹ02ｨｬ ｨｰ08ｨｨｨｬ0209ｨｰ ｨｬ06ｨｴｨｹ ｨｨ0006ｨｪｨｮｨｺ050206ｨｰｨｨ01ｨｪ0401 ｨｬｨｨｨｺ0806 ﾂｨｨ ｨｮ06ｨｴｨｨｨｬ 0708ｨｨｨｬ02ｨｪ02ｨｪｨｨ02ｨｬ ｨｺ0605ｨｨ ﾂ0209ｨｰ0902ｨｪｨｪ06ｨｦ ｨｨｨｬ ｨ 05ｨｹｨｪ ｨｬ02ｨｪｨｨ. 00 ｨｨ ｨ ｨｪｨｨｨｨ N.B. Tsiu c 0906ｨ 09ｨｰ0608ｨ ｨｬｨｨ 06ｨｰｨｬ02 ﾂ02ｨｪ ｨｪ0609, ｨｰ08ｨ ｨｪ09ｨｺ08ｨｨ07ｨｰ04 ｨｺ06ｨｰ ｨ ｨｪｨ 08ｨｮ03ｨｨ09ｨ 06ｨｰ ｨ 0202ｨｪｨｰ02: hpl, b-hcg, CRH, TFP12, KISS1 ｨｨ PLAC1 [50] ｨ ｨ 06ｨｰ02 A.T. Go 0706ｨｺｨ 04ｨ ｨｪ06 08ｨ 0405ｨｨ ﾂｨｨ ｨｨ09ｨｮｨｰ09ｨｰ09ｨｨｨｨ ｨ 04ｨｬ02 ｨｺ080609ｨｨ ｨｮ ｨ ｨｬ02ｨｪｨｪ0401 ｨｨ ｨｪ02ｨ ｨｬ02ｨｪｨｪ ｨｪｨｴｨｨｨｪ ｨｰ08ｨ ｨｪ09ｨｺ08ｨｨ07ｨｰ ｨｴ ｨ 0002ｨｪ0609: GCM1, ZDHHC1, PAPPA, PSG9, PLAC1, b-hcg ｨｨ LOC90625 [22]. 00 ｨｪｨ 09ｨｰ0607ｨｴ ｨｬ ｨｨｨｰ ｨｨ09ｨｺ ｨｨ00ｨｨ ﾂｨｪ0401 ｨｬｨ 08ｨｺ ｨ ｨｪｨ 08ｨｮ0302ｨｪｨｨ07 ｨｰ08ｨｨ0906ｨｬｨｨｨｨ ｨｨ ｨｹ040609ｨ ｨｪｨｨ02ｨｬ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨｬ ｨ 0405ｨ 0607ｨｨ09ｨ ｨｪｨ ｨｨ00ｨｨ ﾂ0209ｨｺｨ ｨｬ060906ｨｬ04 21 ｨｬ ｨｪｨ 0409ｨ ｨｪｨｨ02ｨｬ LOC90625 (C21orf105), 0708ｨｨ09ｨｮｨｰ09ｨｰ09ｨｮ06ｨｴｨ ｨ 04ｨｬ02 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ [40]. 0201ｨｪｨ ｨｺ06 ｨｨ ｨｹ040609ｨ ｨｪｨｨ02 01ｨ ｨｪｨｪ06ｨｦ ｨｬ ｨｺｨ ﾂ0209ｨｰ0902 ｨｬｨ 08ｨｺ0208ｨ ｨｰ08ｨｨ0906ｨｬｨｨｨｨ 21 06ｨｺｨ 04ｨ ｨｹ ｨｪ ｨｬ0603ｨｪ04ｨｬ ｨｨ 09 ｨｪｨｨ04ｨｺｨｨｨｬ ｨｮ080609ｨｪ02ｨｬ ｨｺ ｨｨｨｨ ｨｨ ｨ 0605ｨｹ0306ｨｦ ｨｨｨｪ01ｨｨ09ｨｨ01ｨｮｨ 05ｨｹｨｪ06ｨｦ 09ｨ 08ｨｨｨ ｨ 0205ｨｹｨｪ0609ｨｰｨｹ06 [24]. 0602ｨｬ ｨｪ02 ｨｬ02ｨｪ0202 ｨ ｨ 0408ｨ ｨ 06ｨｰｨ ｨｪ 0108ｨｮ0006ｨｦ ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ 0102ｨｰ02ｨｺ02ｨｨｨｨ ｨｰ08ｨｨ0906ｨｬｨｨｨｨ 21, 04ｨ ｨｺ0506 ﾂｨ 06ｨｴｨｨｨｦ ｨｪｨｨｨｨ ｨｪ06ｨｪｨｮｨｺ050206ｨｰｨｨ01ｨｪ ｨｨｨｬ060800ｨｨ04ｨｬｨ ｨ 0002ｨｪ ｨｬ060906ｨｬ04 21, ｨｺ06ｨｰ ｨｪ02 05ｨｺ ｨｨ08ｨｮ06ｨｰ ｨｬｨ ｨｰ0208ｨｨｨｪ09ｨｺｨｨ01 ｨｺ0502ｨｰｨｺｨ 01 ｨｺ080609ｨｨ, ｨ ｨｰ0605ｨｹｨｺ ｨ 0202ｨｪｨｰｨ 08ｨｪ0401 ｨｰｨｺｨ ｨｪ ｨ ｨｺｨｨｨｬｨｨ 0002ｨｪｨ ｨｬｨｨ 09ｨｰｨ 05ｨｨ PLAC4 ｨｨ SERPINB2 [16] ｨ ｨｪｨｨ ﾂ02ｨｪｨｨ02 SNP-04ｨ 09ｨｨ09ｨｨｨｬ ｨ ｨｺ0506 ﾂｨ 02ｨｰ ｨｰ06ｨｬ, ﾂｨｰ06 06ｨｪｨｨ 0708ｨｨｨｬ02ｨｪｨｨｨｬ04 ｨｰ0605ｨｹｨｺ ｨ, 0002ｨｰ ｨｨ0006ｨｰｨｪ ｨｨ04ｨｮ- ﾂｨ 02ｨｬ06ｨｬｨｮ SNP ｨｬ02 ｨｰ060006, ｨｨｨｪ060001ｨ ｨｪ0206ｨ ｨｨｨｬ ｨｪｨｨｨｰ0205ｨｹｨｪ0402 ｨｮ ｨｨ07, ｨｪｨ 0708ｨｨｨｬ0208, ｨｨ ｨｬｨ ｨｰｨｹ 0006ｨｬ06-05ｨｨｨ ｨｰ ｨｨ0006ｨｰｨｪｨ. 0306ｨｨ09ｨｺ 0108ｨｮ00ｨｨ01 ｨｮ0106ｨ ｨｪ ｨｪ ｨｨ ｨｺ 06ｨ ｨｪｨ 08ｨｮ0302ｨｪｨｨ ｨ 0202ｨｪｨｰｨ 08ｨｪ06ｨｦ ｨｬ ｨｰ02ｨｪ02ｨｨｨ 05ｨｹｨｪ06 08ｨ 0405ｨｨ ﾂｨｪ04ｨｬｨｨ SNPs [23]. 0306ｨｬｨｨｨｬ ｨｪｨ PLAC4 ｨ ｨｪ06 02ｨｴ ｨｪ0609: COL6A2, COL6A1, BTG3, ADAMTS1, C21orf105, APP, ｪ ｨｺ06ｨｰ ｨｰ02ｨｪ02ｨｨｨ 05ｨｹｨｪ06 ｨｬ0603ｨｪ06 ｨｨ ｨｹ040609ｨ ｨｰｨｹ ｨｨ09ｨ ｨｪｨｪ0402 SNP-ｨｬｨ 08ｨｺ ｨ 0405ｨｨ 06ｨ ｨｪｨ 08ｨｮ0302ｨｪ04 ｨｮ 0302ｨｪｨｴｨｨｨｪ ｨｰ08ｨｨｨｬ0209ｨｰ08ｨ ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ ｨｨ 06ｨｰ09ｨｮｨｰ09ｨｰ090609ｨ 05ｨｨ ｨｮ ｨｪ02ｨ ｨｬ02ｨｪｨｪ ｨｪｨｴｨｨｨｪ. 8

7 ｪ ｪ ｨｹ040609ｨ ｨｪｨｨ02 SNP 09 ｨｬ040108, ｨｺ0601ｨｨ08ｨｮ02ｨｬ06ｨｦ 0002ｨｪ06ｨｬ PLAC4, 0706ｨｺｨ ｨ 02ｨｰ ｨｺｨｮ06 ｨｨｨｪ000608ｨｬｨ ｨｰｨｨ09ｨｪ0609ｨｰｨｹ ｨｨ ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ ｨｪｨｨ07 ｨｰ08ｨｨ0906ｨｬｨｨｨｨ 21 ｨｮ ｨ ｨｬ ｨｰ08ｨｨｨｬ0209ｨｰ ｨｨ ｨ ｨｪ04 01ｨｨｨ 00ｨｪ0609ｨｰｨｨ ﾂ0209ｨｺｨｨ02 ｨｰ0209ｨｰ ｨ ｨｪｨ 05ｨｨ04ｨ ｨ ｨｹｨｪ ｨｰｨｪ060302ｨｪｨｨ SNP 0002ｨｰ ｨｨ0006ｨｰｨｪ ｨ 08ｨ ｨｨｨｬ02ｨｪ02ｨｪｨｨ02ｨｬ ｨｬｨ ｨｺｨｰ0806ｨｬ02ｨｰ08ｨｨｨｨ (MS) ｨｨ 02ｨｨ ｨｦ [51]. 0201ｨｪｨｨｨｬ ｨｨ ｨｨｨｬｨｮｨｴ0209ｨｰ09 02ｨｨ ｨｦ ｨｰ ｨｬ0603ｨｪ0609ｨｰｨｹ 0202 ｨｨ ｨｹ040609ｨ ｨｪｨｨ ｨｨ ｨｪｨｨ04ｨｺｨｨ01 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨ0701 ｨｬ ｨｬ0604ｨｨ0006ｨｰｨｪ ｨ 08ｨ ｨｨｨｬ02ｨｪ0705ｨｨ09ｨｹ ｨｺ0605ｨｨ ﾂ0209ｨｰ0902ｨｪｨｪｨ ｨ 05ｨｹｨｪ06ｨｬ ｨｬ02ｨｪｨｨ ｨｨ ｨｺ0605ｨｨ ﾂ0209ｨｰ0902ｨｪｨｪｨ 07 02ｨｨ ｨ ｨｨ ｨｨ ｨｹ040609ｨ ｨｪｨｨｨｨ ｨｬｨ ｨｺｨｰ0806ｨｬ02ｨｰ08ｨｨｨｨ ｨｨ 02ｨｨ ｨｦ ｨ 0405ｨｨ ｨｰｨｨ00ｨｪｨｮｨｰ ｨｺｨｨ ｨｺｨ 04ｨ ｨｰ0205ｨｨ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｨ (100%) ｨｨ ｨｨ00ｨｨ ﾂｨｪ0609ｨｰｨｨ (89,7%). 05ｨｰ06ｨｨｨｰ 06ｨｰｨｬ02ｨｰｨｨｨｰｨｹ, ﾂｨｰ06 01ｨ ｨｪｨｪ04ｨｦ 09ｨｺ08ｨｨｨｪｨｨｨｪ00-ｨｰ0209ｨｰ 02ｨｴ02 ｨｪ ｨｰ0609 ｨｺ ｨｨ ｨｹ040609ｨ ｨｪｨｨ06 09 ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺ02, ｨｰｨ ｨｺ ｨｺｨ ｨｺ ｨｰｨｪ0609ｨｰｨｹ ｨｪ ｨｨｨｰ0205ｨｹｨｪ ｨｮ05ｨｹｨｰｨ ｨｰ ｨｰｨ ｨｰ 0708ｨｨｨｬ0208ｨｪ06 17%. 06ｨ ｨｺ ｨ ｨｪ0401 ｨ ｨｪｨ 05ｨｨ ｨｪ0206ｨ ｨｨｨｬ ｨｨｨ 05ｨｨ04ｨｨ080609ｨ ｨｪｨｪ ｨ 0608ｨｮ010609ｨ ｨｪｨｨ02, ﾂｨｰ06 04ｨ ｨｰ08ｨｮ01ｨｪ0702ｨｰ 09ｨｪ ｨｪｨｨ02 09ｨｰ08ｨ ｨｰ0200ｨｨｨｨ SNP ｨ ｨｺｨｰｨｨｨｺｨｮ. 0607ｨｨ0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｨ02 ｨｬ02ｨｰ ｨｪ02ｨｨｨｪ09ｨ 04ｨｨ09ｨｪ06ｨｦ ｨｪｨ ｨｰｨ 05ｨｹｨｪ06ｨｦ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨｨｺ ｨｨ0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｨｨｦ ｨ ｨｪｨ 05ｨｨ04 ｨｰｨ ｨｺ ｨｰ ｨｺｨｰｨｨ09ｨｪ04ｨｬ ｨ 06ｨｬ ｨｪｨｺｨｨ ｨｺ0605ｨｨ ﾂ0209ｨｰ09ｨ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ ｨｮ05ｨｹｨｰｨ ｨｰ04 ｨｰｨ ｨｺ ｨ ｨｪｨ 05ｨｨ04ｨ 0706ｨｺｨ ｨ 06ｨｰ ｨ ｨｺｨｰｨｨ09ｨｪ0609ｨｰｨｹ ｨｪｨｪ ｨｪ0609, ｨｪ ｨｨ 05ｨｰ06ｨｬ ｨｪ02 01ｨ 06ｨｰ ｨｨｨｪ000608ｨｬｨ 02ｨｨｨｨ ｨｨ ﾂｨｪ06ｨｦ 09ｨｰ08ｨｮｨｺｨｰｨｮ ｨｨ0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｨ01 ｨｨ ｨ ｨｪｨｨ0701 ｨｨ ｨｹ04ｨｮ02ｨｰ ｨｨ0806ｨｺｨｨｨｦ ｨｺｨｰ08 ｨｬ02ｨｰ ｨｬ060502ｨｺｨｮ050708ｨｪ06ｨｦ ｨ ｨｨ ｨｨｨｨ ｨｰｨ ｨｰ06 ﾂｨｪ06 ﾂｨ 09ｨｰ ｨｨ0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ ｨ ｨｪｨ 05ｨｨ04ｨ ｨｨ ｨｹ04ｨｮ06ｨｰ ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0402 ｨｺ ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｨ ｨｰ08ｨｨｨｺｨｰｨ ｨｬ 08ｨ ｨ 06ｨｰｨ ｨｬ 09 01ｨ ｨｪｨｪ06ｨｦ 06ｨ 05ｨ 09ｨｰｨｨ 09ｨｰ06ｨｨｨｰ 06ｨｰｨｪ0209ｨｰｨｨ ｨｨ ｨ ｨｪｨｨ02 L.L. Poon ｨ 09ｨｰ0608ｨ ｨｬｨｨ. 02ｨｪｨｨ 0706ｨｺｨ 04ｨ 05ｨｨ, ﾂｨｰ ｨｨ00ｨｨ ﾂ0209ｨｺ ｨｪｨｨ ｨ 09 ｨｬｨ ｨｰ0208ｨｨｨｪ09ｨｺ06ｨｦ 0705ｨ 04ｨｬ02 ｨｬ0603ｨｪ06 ｨｨ ｨｹ040609ｨ ｨｰｨｹ 0507ｨｨ0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｨ02 ｨｬｨ 08ｨｺ [44] ｨｨ ｨ ｨｪｨｨ07 ｨ 0405ｨｨ 0904ｨ 08ｨ ｨｪ ｨｺｨｮ09 IGF2-H19 ｨｨ 0601ｨｪ06ｨｪｨｮｨｺ050206ｨｰｨｨ01ｨｪ04ｨｦ ｨｨｨｬ060800ｨｨ04ｨｬ 09 05ｨｰ06ｨｬ ｨｨ06ｨｪ02. 02ｨｰ ｨｺｨｨｨｦ ｨ ｨｹ 0002ｨｪｨ H19 ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪ, ｨ ｨｬｨ ｨｰ0208ｨｨｨｪ09ｨｺｨｨｨｦ ｨ ｨｹ 0609ｨｰｨ 02ｨｰ0907 ｨｪ02ｨｬ02ｨｰ0205ｨｨ080609ｨ ｨｪｨｪ04ｨｬ. 00 ｨｨ ｨ ｨｪｨｨｨｨ 0708ｨｨｨｪ ｨｮ ﾂｨ 09ｨｰｨｨ ｨｪｨｴｨｨｨｪ, ｨｮ 16 ｨｨ04 ｨｺ06ｨｰ ｨ 0405ｨｨ ｨｪ04 01ｨ 05ｨｹｨｪ02ｨｦ03ｨｨ02 ｨｨ ｨ ｨｪｨｨ ｨｨ 09 ｨｰ02ｨｬ, ﾂｨｰ06 06ｨｪｨｨ 06ｨｺｨ 04ｨ 05ｨｨ09ｨｹ 0002ｨｰ ｨｨ0006ｨｰｨ ｨｬｨｨ 0706 ｨ ｨｪｨ 05ｨｨ04ｨｨ08ｨｮ02ｨｬ06ｨｬｨｮ 0601ｨｪ06ｨｪｨｮｨｺ050206ｨｰｨｨ01ｨｪ06ｨｬｨｮ ｨｨｨｬ060800ｨｨ04ｨｬｨｮ ｨｮ05ｨｹｨｰｨ ｨｰ02 ｨｬ02ｨｰ060106ｨｬ ｨｬ ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ07 ｨ ｨｺｨ 04ｨ ｨｪ06, ﾂｨｰ % (11 ｨｨ04 16) 0905ｨｮ ﾂｨ ｨ ｨｪｨ 08ｨｮ03ｨｨ09ｨ 02ｨｰ0907 ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｪｨ ｨ, ｨｺ06ｨｰ0608ｨ 07 ｨｪｨ ｨ 05ｨ 09ｨｹ ｨｰ ｨｺ06ｨｦ 05ｨｨｨｪｨｨｨｨ. 06ｨ ｨｺｨｨｨｬ 06ｨ 08ｨ 0406ｨｬ, ｨｨ05ｨ 09ｨｹ ｨｬ0603ｨｪ0609ｨｰｨｹ ｨｪｨ 0609ｨｪ0609ｨ ｨｪｨｨｨｨ 01ｨｨ ｨｪ02ｨｨｨ 05ｨｹｨｪ ｨｰｨ ｨｰｨｮ09ｨ ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｨ07 ｨ ｨｦ 06ｨ ｨｪｨ 08ｨｮ03ｨｨ09ｨ ｨｰｨｹ ｨ 09 ｨｺ ｨｰ06ｨｺ02 ｨｬｨ ｨｰ0208ｨｨ. 00ｨ 0903ｨｰｨ ｨ ｨｪ0402 ｨｨ ｨ ｨｪｨｨ07 08ｨ 0405ｨｨ ﾂｨｨｨｦ ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｨ07 ｨｬ020301ｨｮ ｨｬｨ ｨｰ0208ｨｨｨｪ09ｨｺｨｨｨｬ ｨｨ ｨｪ04ｨｬ 0002ｨｪ06ｨｬｨ ｨｬｨｨ 0708ｨｨ090205ｨｨ ｨｺ ｨｨ0102ｨｪｨｰｨｨ00ｨｨｨｺｨ 02ｨｨｨｨ 01ｨｨ ｨｪ02ｨｨｨ 05ｨｹｨｪ06 ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｪ ｨｨ06ｨｪ0609 (Differentially methylated regions / DMRs) ｨｪ06 ｨ 0605ｨｹ ｨｺ0605ｨｨ ﾂ0209ｨｰ ｨ ｨｦｨｰ0609, 08ｨ 0405ｨｨ ﾂｨｪ04ｨｬ 06ｨ 08ｨ 0406ｨｬ ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｪ0401 ｨｮ ｨｬｨ ｨｰ0208ｨｨ ｨｨ ｨ. 05ｨｰ06ｨｨｨｰ 06ｨｰｨｬ02ｨｰｨｨｨｰｨｹ, ﾂｨｰ ｨｬ 0002ｨｪ06ｨｬ, ｨｺ06ｨｰ060804ｨｦ ｨ 0405 ｨｨ0102ｨｪｨｰｨｨ00ｨｨ02ｨｨ080609ｨ ｨｪ ｨｺｨ ｨｺ 00ｨｨ0706ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｪ04ｨｦ 09 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ, 06ｨｺｨ 04ｨ SERPINB ｨｪｨｨｨｰ0205ｨｹｨｪ0402 ｨｨ ｨ ｨｪｨｨ07 ｨ 0405ｨｨ ｨｰ06 ﾂ02ｨｪ04 ｨｪｨ ｨｬ06ｨｰ0608ｨｪ06ｨｬ ｨｨ06ｨｪ ｨｪｨ ｨｨ05ｨｨ CpG-0609ｨｰ080609ｨｺｨ 01 ｨｪｨ ｨｬ060906ｨｬ02 21 [12] ｨ ｨｪｨ 08ｨｮ0302ｨｪｨ ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ ｨｺ ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｨ ｨｰ08ｨｨｨｺｨｰｨ 0404 BstUI ｨｺｨｰｨｨ09ｨｪ ｨｨ ｨｨ04ｨ 00ｨｨ070208ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｪ ｨｮ ｨｬｨ ｨｰ0208ｨｨ 0002ｨｪｨ RASSF1A [3] ｨｬ ｨ 09ｨｰ0608ｨ ｨｬｨｨ ｨ ｨｪ ｨ ｨｪｨ 05ｨｨ04 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨｨｨ ｨｪ06ｨｦ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨｬ02ｨｰ060106ｨｬ ｨｨｨｬ ｨ 05ｨｹｨｪ ｨｬ02ｨｪｨｨ ｨｺｨｰｨｨ09ｨｪ0609ｨｰｨｹ 0802ｨ ｨｺ02ｨｨｨｨ ｨｰｨ 09ｨｨ05ｨ 91%. 0306ｨｺｨ 04ｨ ｨｪ06, ﾂｨｰ06 ｨｮ 0109ｨｮ ｨｪｨｴｨｨｨｪ ｨｰｨｨｨｺ08ｨ ｨｰｨｪ04ｨｬ ｨｪｨｨ02ｨｬ 09ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ, ｨ 09ｨｪ02ｨｪｨｨ ｨｮ070706ｨｦ 0302ｨｪｨｴｨｨｨｪ 09 ｨｪ0608ｨｬｨ 05ｨｹｨｪ ｨｰ02ｨｺｨ 06ｨｴ02ｨｦ ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｹ06, 08ｨ 0409ｨｨ050609ｨｹ ｨｪ02ｨｪｨｨ02 ｨ ｨｬ02ｨｪｨｪ0609ｨｰｨｨ 09 09ｨｨ ｨｰ0604ｨ. Y.K. Tong ｨ 09ｨｰ0608ｨ ｨｬｨｨ ｨｨ05ｨｨ ｨｪ060904ｨｦ ｨｬ02ｨｰ ｨｰ02ｨｺ02ｨｨｨｨ ｨｰ08ｨｨ0906ｨｬｨｨｨｨ 21, ｨｺ06ｨｰ060804ｨｦ 0906 ﾂ02ｨｰｨ 02ｨｰ ｨ ｨｨ00ｨｨ ﾂ0209ｨｺｨｨ ｨ 0507ｨｨ0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｨ02 ｨｨ 0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｨ02 ｨｬｨ 08ｨｺ [49] ｨｰ060006, ﾂｨｰ06ｨ 04 ｨｪｨ ｨｦｨｰｨｨ ｨｬｨ 08ｨｺ ｨｪ02ｨｺ0502ｨｰ06 ﾂｨｪ06ｨｦ ｨ ｨｪｨ ｨｬ060906ｨｬ02 21, ｨｺ06ｨｰ0608ｨ 07 ｨ 0405ｨ ｨ 04ｨｪ06ｨｬｨｮ ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨ ｨ 0202ｨｪｨｰ02 ｨｨ 09 ｨｺ0502ｨｰｨｺｨ 01 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ, ｨｨ ｨｹ040609ｨ 05ｨｨ ｨｰ08ｨｨｨｺ02ｨｨ06 ﾂｨｮ0909ｨｰ09ｨｨｨｰ0205ｨｹｨｪ04ｨｬｨｨ ｨｺ ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｨ06 05ｨｪ0106ｨｪｨｮｨｺ0502ｨ 04ｨ ｨｬｨｨ, ｨ 04ｨ ｨｰ02ｨｬ ｨ ｨｪｨ 05ｨｨ04ｨ ｨｬ02ｨｰ060106ｨｬ 02ｨｨ ｨｦ ｨｺｨ ｨｹｨｪ06ｨｦ ｨｨ ｨｬｨ 08ｨｺ ｨｪｨ 05ｨｨ04 ﾂｨｨ0905ｨ ｨｺ0607ｨｨｨｦ ｨｬ060906ｨｬ ｨｨ05ｨｨ 07ｨｮｨｰ02ｨｬ 0908ｨ 09ｨｪ02ｨｪｨｨ ｨｨ0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ ｨｬｨ 08ｨｺ0208ｨ 09 ｨｰｨ ｨｺ060906ｨｦ 0002ｨｪｨ ZFY, 08ｨ ｨｪｨｪ ｨｪｨ Y ｨｬ060906ｨｬ ｨｮ05ｨｹｨｰｨ ｨｰ ｨ 00ｨ 02ｨｬ04ｨｦ ｨｬ06ｨｰ ｨｪｨ HLCS 06ｨｺｨ 04ｨ ｨｨ070208ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪ ｨ 0202ｨｪｨｰ02 ｨｨ 00ｨｨ0706ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪ 09 ｨｺ0502ｨｰｨｺｨ 01 ｨｺ080609ｨｨ ｨｬｨ ｨｰ0208ｨｨ. 0508ｨ 09ｨｪ02ｨｪｨｨ02 ﾂｨｨ0905ｨ ｨｺ0607ｨｨｨｦ 00ｨｨ070208ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｪ HLCS ｨｨ 0506ｨｺｨｮ09ｨ ZFY ｨｨ ｨ ｨｨｨｰｨｹ 06ｨ 08ｨ ｨｰ08ｨｨ0906ｨｬｨｨ02ｨｦ 21 ｨｨ 05ｨｮ070506ｨｨ01ｨｪｨｮ ｨ 0202ｨｪｨｰｨ 08ｨｪｨｮ ｨ ｨｪｨ 05ｨｨ04ｨｨ080609ｨ 05ｨｨ 24 06ｨ 08ｨ 0402ｨ 0705ｨ 04ｨｬ ｨｪｨｴｨｨｨｪ 09 05ｨｮ070506ｨｨ01ｨｪ04ｨｬｨｨ ｨ ｨｬ02ｨｪｨｪ0609ｨｰ07ｨｬｨｨ ｨｨ 5 06ｨ 08ｨ ｨ 04ｨｬ ｨｪｨｴｨｨｨｪ, ｨｮ ｨｺ06ｨｰ ｨ 0405ｨ 01ｨｨｨ 00ｨｪ0609ｨｰｨｨ080609ｨ ｨｪｨ ｨｰ08ｨｨ0906ｨｬｨｨ , ｨｺ0806ｨｬ ｨｪ06ｨｦ 05ｨｮ070506ｨｨ01ｨｪ06ｨｦ ｨ 04, ｨ 0405ｨｨ ｨｺ ｨｺｨｰｨｪ06 ｨｺ05ｨ 0909ｨｨ00ｨｨ02ｨｨ080609ｨ ｨｪ ｨｰ ﾂｨｨｨｰｨ 06ｨｰ, ﾂｨｰ ｨｨ0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨ 07 ﾂｨ 09ｨｰｨｹ ｨ ｨｪｨ 05ｨｨ04ｨ ｨｮｨｪｨｨ ｨ 05ｨｹｨｪｨ ｨｨ 0708ｨｨｨｬ02ｨｪｨｨｨｬｨ ｨｺ ｨｬ ｨ ｨｬ02ｨｪｨｪ0609ｨｰ07ｨｬ, 09 ｨｰ ｨｬ07 ｨｺｨ ｨｺ 0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨ 07 ﾂｨ 09ｨｰｨｹ ｨｪｨ ｨｨ ｨｹ040609ｨ ｨｰｨｹ ｨｪｨ ｨｮ02ｨｬ ｨｰ ｨｺ06ｨｦ 05ｨｨｨｪｨｨｨｨ 0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｨ02 ｨｬｨ 08ｨｺ ｨ, ｨｺ06ｨｰ ｨｨ0406ｨ ｨｨ05ｨｨｨｨ ｨｨｨｬ0206ｨｰ ｨｪ06ｨｬ02. E.A. Papageorgiou ｨ 09ｨｰ0608ｨ ｨｬｨｨ ｨｨ05ｨｨ 09ｨｰ08ｨ ｨｰ0200ｨｨ06 ｨｨ ｨｹ040609ｨ ｨｪｨｨ07 ｨｨｨｬｨｬｨｮｨｪ ｨｨ07ｨｨｨｰｨ 02ｨｨｨｨ ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪ06ｨｦ ﾂ02ｨｰｨ ｨｪｨｨｨｨ09ｨｺ0605ｨｨ ﾂ0209ｨｰ0902ｨｪｨｪ06ｨｦ ｨｨｨｬ ｨ 05ｨｹｨｪ ｨｬ02ｨｪｨｨ (MeDiP ｪ Methylated DNA immunoprecipitation) ｨｨ ｨ ｨｪｨｨ07 ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｨ07 07ｨ ｨｰｨｰ0208ｨｪ ｨｬ060906ｨｬ 13, 18, 21, 09 ｨｨ Y [42] ｨ ｨｪｨｪ06ｨｦ ｨｬ02ｨｰ0601ｨｨｨｺ ｨ 0109ｨ ｨｰｨ ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｪ0401 ｨｮ ﾂｨ 09ｨｰｨｺ0609 ｨｨ, ｨ ｨｰ0205ｨｹｨｪ06, 06ｨ 0600ｨ ｨｴ02ｨｪｨｨ ｨｨ00ｨｨ ﾂ0209ｨｺ06ｨｦ ｨｬ02ｨｰｨｨ05ｨｨ080609ｨ ｨｪｨｪ06ｨｦ ｨｨ ｨｹ04ｨｮ06ｨｰ ｨｨ00ｨｨ ﾂｨｪ0402 ｨｺ 5-ｨｬ02ｨｰｨｨ0502ｨｨｨｰ0604ｨｨｨｪｨｮ ｨ ｨｪｨｰｨｨｨｰ0205ｨ. 06ｨ ｨｺ ｨ 0600ｨ ｨｴ02ｨｪｨｨ ｨｮ03ｨｨｨｰ ｨｺ0506 ﾂ020904ｨｬ ｨｬ06ｨｬ02ｨｪｨｰ06ｨｬ 09 01ｨ ｨｪｨｪ06ｨｬ ｨｬ02ｨｰ ｨ ｨｰ02ｨｬ ｨｨ05ｨ 09ｨｹ ｨｺ0605ｨｨ ﾂ0209ｨｰ0902ｨｪｨｪｨ ｨ ｨｰ0205ｨｨ ｨｨ05ｨｨ, ﾂｨｰ ｨｪ ｨｬ0603ｨｪ ｨｪｨｪ ｨｮ ｨｨｨｰｨｹ ｨｰ08ｨｨ0906ｨｬｨｨ ｨｮｨｰ02ｨｬ 0908ｨ 09ｨｪ02ｨｪｨｨ ｨｮ ﾂ02ｨｪｨｪ ｨｪｨ ﾂ02ｨｪｨｨｨｦ ｨｪ0608ｨｬｨ 05ｨｹｨｪ ｨｨ ｨｨｨｪ010806ｨｬ06ｨｬ 02ｨ ｨｮｨｪｨ. ISSN