中国唇腭裂的遗传学
Genetics of cleft lip and cleft palate in China.
作者信息
Hu D N, Li J H, Chen H Y, Chang H S, Wu B X, Lu Z K, Wang D Z, Liu X G
出版信息
Am J Hum Genet. 1982 Nov;34(6):999-1002.
During the past 10 years, 60 cases of cleft lip with or without cleft palate [CL(P)] were recorded among 45,072 newborns at Shanghai International Peace Maternity and Infant Hospital, China. The incidence was 1.33 per 1,000 births. The family histories of 163 CL(P) patients were analyzed. The incidences of CL(P) in the first-, second-, and third-degree relatives of CL(P) patients were 11/246 (4.47%), 10/1,032 (0.97%), and 6/1,727 (0.35%), respectively. Of the 163 probands, three had a history of consanguinity of the parents (1.8%), in contrast to 0.77% in the general population. These data are suggestive of multifactorial inheritance. The heritability of CL(P) in our study calculated by Falconer's formula was 77.6%.
在过去10年中，中国上海国际和平妇幼保健院的45,072例新生儿中记录了60例唇裂伴或不伴腭裂[CL(P)]病例。发病率为每1000例出生中有1.33例。对163例CL(P)患者的家族史进行了分析。CL(P)患者一级、二级和三级亲属中CL(P)的发病率分别为11/246(4.47%)、10/1032(0.97%)和6/1727(0.35%)。在163名先证者中，有3名父母有血缘关系史(1.8%)，而一般人群中这一比例为0.77%。这些数据提示为多因素遗传。通过Falconer公式计算，我们研究中CL(P)的遗传度为77.6%。
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