多基因病的分子遗传学解析.ppt

三、Characteristics of Polygenic Disorders Most of common diseases and common congenital malformation, incidence ＞ 1/1000. 2. Tend to aggregate in families. Recurrence rate ≈ 1%～10% 3. Ethnic difference 病名 发病率 日本 美国 脊柱裂 0.003 0.002 无脑儿 0.006 0.005 唇裂±腭裂 0.0017 0.001 先天性畸形足 0.014 0.055 先天性髋关节脱位 0.01 0.007 Most of common diseases and common congenital malformation, incidence ＞ 1/1000. 2. Tend to aggregate in families. Recurrence rate ≈ 1%～10% 3. Ethnic difference 4. Consanguinity also increases the probability of an affected child for a multifactorial trait. Most of common diseases and common congenital malformation, incidence ＞ 1/1000. 2. Tend to aggregate in families. Recurrence rate ≈ 1%～10% 3. Ethnic difference 4. Consanguinity also increases the probability of an affected child for a multifactorial trait. 5. First degree relatives have the same risk of affected. Most of common diseases and common congenital malformation, incidence ＞ 1/1000. 2. Tend to aggregate in families. Recurrence rate ≈ 1%～10% 3. Ethnic difference 4. Consanguinity also increases the probability of an affected child for a multifactorial trait. 5. First degree relatives have the same risk of affected. 6. Risk of affected relatives falls off very quickly with the degree of relationship. 亲属级别 发病风险 唇裂 先天性髋关节脱位 先天性幽门狭窄 一般群体 0.001 0.002 0.005 一卵双生 0.40 0.40 0.15 一级亲属 0.04 0.05 0.05 二级亲属 0.007 0.006 0.025 四、Estimate of Recurrence Risk Edward formula Incidence≈0.1%~1% Heritability≈70%~80% 1. Incidence and Heritability 如：Cleft Lip 0.17% 76% RR=√0.17%=4.1% * * Polygenic Disorders Polygenic Disorders: 由两对以上