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先天性马蹄内翻足多因素阈值模型的验证

Confirmation of the multifactorial threshold model for congenital structural talipes equinovarus.

作者信息

Czeizel A, Bellyei A, Kránicz J, Mocsai L, Tusnády G

出版信息

J Med Genet. 1981 Apr;18(2):99-100. doi: 10.1136/jmg.18.2.99.

Abstract

The first degree relatives of 174 children with congenital isolated structural talipes equinovarus were examined by an orthopaedic surgeon. The affected rate of first degree relatives was 27 times higher than the birth prevalence of Hungarian newborns. The heritability in the parents and sibs was 0.82 +/- 0.15. The multifactorial threshold model was proved by the so-called GAMT programme on the basis of the identity of the h2 values in the different generations of first degree relatives. A relatively lower familial clustering was found in gypsies who had a higher prevalence.

摘要

174例先天性单纯性马蹄内翻足患儿的一级亲属由一名骨科医生进行了检查。一级亲属的患病率比匈牙利新生儿的出生患病率高27倍。父母和兄弟姐妹的遗传度为0.82±0.15。基于一级亲属不同世代中h2值的一致性,通过所谓的GAMT程序证明了多因素阈值模型。在患病率较高的吉普赛人中发现了相对较低的家族聚集性。

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