新版医学遗传学复习重点必考-新版.pdf

1,UAAUGAUAG:DNADNADNA2DNA3()()()DNARNA()4DNARNA56AaAAAaAa:AaAAaaAaAaPTCADAa(Marfan)ABOMNADAa:ADAa78AR1/42/39AD1-221/2103-411XXRXDXXXXXRXDD12X(XD)1/2AD13YY14152~316()172n-12n+118:1912202122146XXdel(1)(q21)46XXdel(1)(pterq21)1q21q21qter1pterq21pterq21::3q21q2546XXdel(3)(q21q25)46XXdel(3)(pterq21q25qter)1801801p22p3446XXinv(1)(p22p34)46XXinv1pterp34p22p34p22qter4p15q2146XXinv(4)(p15q21)46XXinv(4)(pterp15q21p15q21qter)2q215q3146XXt(25)(q21q31)46XXt(25)(2pter2q215q315qter5pter5q312q212qter)232,51/18(1/18)28/95:24DownIQ252526Edwards5PEdward1890%15P27N-ARN-NAT1NAT2NATPNAT2N-28G6PD-6-G6PDG6PDGSSGGSHGSHSHG6PDGSH2912343031pptAD323334Ph9.222295%PhCMLPh351.:2.:3.:3637135234567891038DNADNARNAgeneticload39123)1.2.3.4540.