单基因病的遗传方式 医学遗传学教材.ppt

Reduced penetrance （外显不全） Reduced penetrance : when the frequency（频率） of expression of a phenotype is less than 100%，the gene is said to show Reduced penetrance. Risk reducing. 习题：P47 17、在一个特定人群中，多指症（AD）的 外显率为80%。一个女患者与表型正常的男子结婚，他们的孩子患多指症的风险是： A、25% B、40% C、50% D、75% ④ Codominance （共显性） If both alleles of a pair are expressed in the heterozygous state, the alleles are codominant. Inheritance pattern of the traits determined by them is codominance. Codominance and ABO blood group genotype Blood type ii O IAIA 、IAi A IBIB 、IBi B IAIB AB The alleles IA and IB are codominant. Inheritance pattern of AB blood type is codominance. ⑤ Delayed Dominance （延迟显性） Genetic disorders can appear at any time in the lifetime of an individul. Delayed Dominance : some genes causing disorders are not expressed until the age at onset (发病年龄）. Some dominant disorders are late-onset (迟发）. Spinocerebellar ataxia (小脑共济失调） the age at onset I 1 2 II 1 2 3 4 5 6 III 1 2 3 4 5 6 7 8 9 10 11 12 13 14 IV 1 2 3 4 5 6 40 35 23 41 28 24 21 Huntington disease (慢性进行性舞蹈病 ) IV 1 2 I 1 2 III 1 2 3 4 5 6 7 8 9 10 11 II 1 2 3 4 5 6 45 41 44 42 46 30 20 5.3 Autosomal Recessive Inheritance