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[唇腭裂的遗传流行病学调查]

[Genetic epidemiological investigation of cleft lip and cleft palate].

作者信息

Shi M N

出版信息

Zhonghua Liu Xing Bing Xue Za Zhi. 1989 Jun;10(3):154-7.

PMID:2789103
Abstract

From July 1, 1985 to June 31, 1987, 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 46,811 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 pregnant season was studied. The frequency of first degree relative was 28.26%. That was about thirteen times higher than the birth population frequency. The incidence rate in the offspring of parental-consanguinity was 9.53% (9/944). This is significantly higher than that of non-consanguineous marriage (P less than 0.001). There were three same sex twins affected by CL +/- CP in the 548 pairs of twins, none of the twins with CL +/- 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 environmental factors play a major role in the etiology.

摘要

1985年7月1日至1987年6月31日,安徽省30所医院开展了出生缺陷监测。发现在46811例围产儿中有116例唇裂(CL)和腭裂(CP)。CL和/或CP的发病率为2.48%。这在国内外都处于较高水平。在这些病例中,有105例(90.52%)为CL+/-CP。研究了CL和CP与母亲年龄、生育顺序、教育程度、居住地、职业和怀孕季节的关系。一级亲属的频率为28.26%。这比出生人口频率高出约13倍。近亲结婚后代的发病率为9.53%(9/944)。这显著高于非近亲结婚(P<0.001)。在548对双胞胎中有3对同性双胞胎受CL+/-CP影响;受CL+/-CP影响的双胞胎中没有同卵双胞胎。只有一对女性双胞胎受不同缺陷影响。发现遗传度为59.6%,低于其他报告中的数据。这表明环境因素在病因中起主要作用。

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