遺 伝 と 遺 伝 子 2007 年 度 参 考 問 題 リストの 解 答 例 xxax2002@yahoo.co.jp 2007 50 50 1. Mendel s second law of inheritance 2006 2006 A B A B Mendel s second law of inheritance principle of independent segregation P AA aa F1 Aa F2 AA Aa aa 1 2 1 principle of independent assortment AaBb AB Ab ab ab 1 1 1 1 F1 [AB] [Ab] [ab] [ab] 9 3 3 1 1
A b a B AaBb Ab ab 1 1 AB ab A-b a-b 2.Meiosis recombination Meiosis mitosis crossover recombination bivalent DNA 2
3.ABO A allele 30% B alleles 10O allele 60 O 2006 2006 ABO A allele % B alleles A allele A B O allele allele 0.6 0.6 0.36 36 A(0.3) B(0.1) O(0.6) A(0.3) 0.09 0.03 0.18 B(0.1) 0.03 0.01 0.06 3
O(0.6) 0.18 0.06 0.36 AA AO 100 2 2 100 2 100 100 2 (100 ) 100 2 4.(phenotype genotype, homozygote heterozygote, dominant inheritance recessive inheritance) phenotype genotype homozygote heterozygote dominant inheritance recessive inheritance phenotype genotype phenotype homozygote AA aa heterozygote Aa Aa A A a dominant a A recessive dominant inheritance recessive inheritance 5.Nucleosome DNA N 4
ATP DNA DNA 30nm 6. synteny Synteny 5
7500 RNA RNA DNA 7.Physical map recombination map centimorgan recombination map genetic map Morgan 1/100 cm1cm 1000kbp DNA physical map 8.Human genome 6
DNA 3.2 10 9 bp 22,000 53 LINE 21 SINE 138 DNA 3 14 5 1000 20000 39 25 23 12 9.LINEs, SINEs, minisatellites, microsatellites 2005 tandem repeats AGCAGCAGC DNA 10 100 DNA DNA RNA RNA LTR(long terminal repeat) LINE(long interspersed nuclear element, ) 7
SINE(long interspersed nuclear element, ) RNA LINE SINE RNA LINE SINE trna rrna RNA Alu SINE tandem repeats 10-100 10.Gene structure (promoter region, 5' UTR, exon, intron, 3 UTR, open reading frame) 2006 open reading frame ORF, 100 ORF 64 3 20 1 100 RNA promoter region mrna exon intron exon mrna UTR(untranslated region, )5 () 5 UTR 3 3 UTR 8
11.20 full name in English, three letter code, one letter code 2005 12.Missense mutations, nonsense mutations, splice site mutations, inframe DNA rearrangement, frameshift DNA rearrangement 2006 9
a) b) c) d) Missense mutations 1 nonsense mutations 1 splice site mutations DNA inframe DNA rearrangement DNA frameshift DNA rearrangement 13. dominant and recessive disorders dominant negative effect, haploinsufficiency, gain of function, loss of function A a A loss of function A a Aa (aa) recessive disorder Aa haploinsufficiency loss of function dominant disorder A A gain of function A a 10
dominant negative effect 14.X-inactivation XIST XIC X inactivation X X-inactivation lyonization X X X X-inactivation X X 1000 X XIC X Inacivation Center, X XIC non-codingrna X XIC Xist RNA XIC X DNA RNA X X X Duchenne 11
15.mRNA, rrna, trna, snrna, snorna mrna DNA RNA rrna RNA trna RNA snrna(small nuclear RNA, RNA) RNA snrnp small nuclear ribonucleoprotein snorna small nucleolar RNA RNArRNA RNA RNA snornp snorna RNA 16.Eucaryotic RNA polymerase II RNA RNA TATA TF D transcription factor D RNA A,B,E,F,H TF H ATP RNA RNA 12
RNA DNA DNA 17.Eucaryotic mrna mrna capping polya addition 2005 mrna 22.mRNA capping 2005 mrna DNA 5 A RNA mrna RNA C C RNA mrna mrna 5 G 13
A 3 mrna mrna RNA mrna 18.Pre-mRNA splicing trans elements U1 snrna, U2 snrna, U2AF65, U2AF35 cis elements trans element cis element snrnp snrna U2AF U2snRNP auxiliary factor 5'donner site 3' acceptor site(branch point) A BBP U2AF U1 snrnp 5 U2 snrnp BBP+U2AF 14
U2AF U2AF65 U2AF35 3 U2AF65 U2AF35 U1 snrna 5 U2 snrna U2AF65 3 T C U2AF35 3 AG 19.Ribosome A, P, and E sites ribosome A P E trna aminoacyl trna peptidyl trna exit() mrna trna A P E A mrna trna P trna A trna A,P P,E E mrna trna mrna E trna 15
20. AUG UAA UAG UGA mrna A trna release factors; RF P C -COOH 21.Ortholog, paralog, homolog 2005 DNA homolog Ortholog paralog 16
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