[多指（趾）畸形：智利圣地亚哥的一项遗传流行病学研究]

[Polydactyly: a genetic epidemiological study in Santiago, Chile].

作者信息

Cifuentes L, Nazer J, Hüber M E, Ramírez R, Nazer C, Morales I

机构信息

Departmento de Biología Celular y Genética, Facultad de Medicina, Universidad de Chile, Santiago de Chile.

出版信息

Rev Med Chil. 1996 Mar;124(3):313-8.

PMID:9008943

Abstract

The aim of this work was to study the prevalence at birth and family aggregation of polydactyly in Chile. We studied 125,652 newborns between 1969 and 1991. The prevalence was 1,329 for each 1,000 live newborns and higher in males than in females. Familial recurrence was 22.5% and gene penetrance was estimated as 0.5 for the postaxial-A type and 0.3 for the postaxial-B type. Gene penetrance for postaxial-B type was higher in males. Estimation of gene frequencies and mutation rates gave the highest values for postaxial-B polydactyly.

摘要

这项研究的目的是调查智利多指畸形的出生患病率及家族聚集性。我们研究了1969年至1991年间的125,652名新生儿。每1000例活产新生儿中多指畸形的患病率为1329例，男性患病率高于女性。家族复发率为22.5%，轴后A型多指畸形的基因外显率估计为0.5，轴后B型为0.3。轴后B型多指畸形在男性中的基因外显率更高。基因频率和突变率的估计显示轴后B型多指畸形的值最高。