| 施民安,吴系科,陈亚丽.唇裂与腭裂的遗传流行病学研究[J].Chinese journal of Epidemiology,1989,10(3):154-157 |
| 唇裂与腭裂的遗传流行病学研究 |
| Genetic Epidemiological Investigation of Cleft Lip and Cleft palate |
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| DOI： |
| KeyWord: 遗传流行病学 唇裂 腭裂 近亲婚配 遗传度 |
| English Key Word: Genetic-Epidemiology Cleft Lip (CL) Cleft palate (CP) Parental-consanguinty Heritability |
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| Abstract: |
| 本文系根据安徽省30所医院自1985年7月至1987年6月两年内住院分娩的资料整理,在46 811例围产儿中有唇裂与腭裂患儿116例,出生时缺陷率为2.43‰,在国内外居较高水平,其中唇裂±腭裂占总数的90.52%。分布特征是:发生率与母亲年龄、产次、文化程度、居住地区、职业和妊娠季节等因素有关。遗传学特征是:亲属患病率高于群体,其中唇裂±腭裂的-级亲属患病率为28.26‰,是监测群体唇裂±腭裂患病率2.24‰的12.6倍;近亲婚配者子代的患病率为9.53‰(9/944),与随机婚配者子代的患病率2.36‰相比,差异非常显著(P<0.001);在548对双生子中有三对同性双胎患唇裂±腭裂,但均是同性双胎之一患病,其中一例同性女双胎患异种缺陷;遗传度为59.6%,低于国内外文献报道,提示环境因素在本病的发生中具有较重要的作用。 |
| English Abstract: |
| From July 1, 1985 to June 31, 1937, the birth defect monitoring was carried out in 30 hospitals in Anhui Province.It was found that there were 116 cases of cleft lip(CL) and cleft palate (CP) in 46811 perinatals. The incidence rate of CL and/or CP was 2.48‰. It was higher level both in China and abroad.Among these cases, there were 105 cases (90.52%) with CL±CP.The incidence rate of CL and CP related to maternal age, birth order, educated level, resident place, occupation and pregnat season was studied.The frequency of first degree relative was 28.26‰.That was about thirteen times higher than the birthpopulation frequency. The incidence rate in the offspring of parental-consanguinty was 9.53‰ (9/944). This is significantly higher than that of non-consan-guineous marriage(P<0.001). There were three same sex twins affected by CL±CP in the 548 pairs of twins, none of the twins withCL±CP had identical one Only one pair of the female twins was affected by different defects. The heritability was found to be 59.6%and was lower than data in other reports. It suggests that enviromental factors play a major role in the etiology. |
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