先天性小指屈曲畸形和侧弯畸形的遗传流行病学调查

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在四川省遗传流行病学调查中,受检人群126,876名,共检出小指侧弯19例,患病率0.15‰,小指屈曲18例,患病率0.14‰。这两种病遗传方式一致,即65%以上家族系为AB,余为AR,所有父母婚配类型为HD×HD或HD×U的家系均为AD遗传方式。本文在流行病学描述和家系分离分析的基础上计算了基因频率、杂合子频率及发病风险率。为了解本病的遗传流行学本底资料和遗传咨询提供了依据。 In the survey of genetic epidemiology in Sichuan Province, 126,876 people were examined, 19 cases of little finger flexion were found, the prevalence was 0.15 ‰, and the flexors of the little finger were 18 cases, the prevalence was 0.14 ‰. The genetic patterns of the two diseases are the same, that is, more than 65% of the familial lines are AB and the remainder is AR. All the families whose parents have a marriage type of HD × HD or HD × U are AD genetic means. Based on the epidemiological description and pedigree segregation analysis, we calculated the gene frequency, heterozygote frequency and incidence risk rate. In order to understand the genetic epidemiology of the disease background information and genetic counseling provided the basis.
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