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与唐氏综合征的发病率、性别及双胎妊娠相关的衰老配子

Aging gametes in relation to incidence, gender, and twinning in Down syndrome.

作者信息

Sharav T

机构信息

Jerusalem Child Development Center, Israel.

出版信息

Am J Med Genet. 1991 Apr 1;39(1):116-8. doi: 10.1002/ajmg.1320390125.

DOI:10.1002/ajmg.1320390125
PMID:1831008
Abstract

Sexual practices have been implicated in the causation of Down syndrome (DS). Two mechanisms have been hypothesized. The theory of the fertilisation of an overripe ovum due to a delay in fertilization, and more recently the aging of the sperm. The orthodox Jewish population have very specific, strict practices concerning menstruation, which provide a unique model for the study of births in relation to time of conception. Data on the incidence of DS in the Jewish population of Jerusalem between 1982 and 1988 were analyzed. Among a comparable group of mothers under age 37 years and for whom amniocentesis was not available, it was found that the incidence of DS was significantly higher in the religious than in the nonreligious population (P less than 0.001). The rate of twinning in the DS population was significantly higher than in the general population (P less than 0.015), as was the ratio of males to females, 62% and 38%, respectively compared with 51% males and 49% females in the newborn population (P less than 0.001). The association of these 3 factors in relation to the aging gamete of either maternal or paternal origin is discussed.

摘要

性行为被认为与唐氏综合征(DS)的病因有关。有两种机制被提出假设。一种是由于受精延迟导致过熟卵子受精的理论,以及最近提出的精子老化理论。正统犹太人群在月经方面有非常特殊、严格的习俗,这为研究与受孕时间相关的出生情况提供了一个独特的模型。对1982年至1988年耶路撒冷犹太人群中唐氏综合征的发病率数据进行了分析。在一组年龄在37岁以下且无法进行羊水穿刺的可比母亲群体中,发现宗教群体中唐氏综合征的发病率显著高于非宗教群体(P<0.001)。唐氏综合征人群中的双胞胎出生率显著高于普通人群(P<0.015),其男女比例也高于普通人群,分别为62%和38%,而新生儿人群中男性和女性的比例分别为51%和49%(P<0.001)。本文讨论了这三个因素与母源或父源老化配子的关联。

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