近亲结婚与唐氏综合征的遗传控制

Consanguinity and the genetic control of Down syndrome.

作者信息

Hamamy H A, al-Hakkak Z S, al-Taha S

机构信息

College of Medicine, Al-Mustransiriya University, Baghdad, Iraq.

出版信息

Clin Genet. 1990 Jan;37(1):24-9. doi: 10.1111/j.1399-0004.1990.tb03386.x.

DOI:10.1111/j.1399-0004.1990.tb03386.x

PMID:2137388

Abstract

Eighty-three infants and children with a professional diagnosis of Down syndrome were studied cytogenetically. The results showed that 81.9% of them were trisomy 21 and 18.1% were the 46/47 + G type of mosaic. All cases were distributed according to parental consanguinity. The results showed that 77.9%, 16.2% and 5.9% of the trisomy 21 cases, and 53.3%, 26.7% and 20.0% of the mosaic cases were from non-consanguineous, first-cousin and second-cousin marriages, respectively. By combining all the cases, these percentages were 73.5%, 18.1% and 8.4%, respectively. Considering the high rate of inbreeding in Iraq (inbreeding coefficient = 0.0225) and using various statistical comparisons, these results revealed the lack of evidence for genetical control of non-disjunction in man.

摘要

对83名经专业诊断患有唐氏综合征的婴幼儿进行了细胞遗传学研究。结果显示，其中81.9%为21 - 三体，18.1%为46/47 + G型嵌合体。所有病例均按照父母是否近亲结婚进行分类。结果表明，21 - 三体病例中，分别有77.9%、16.2%和5.9%来自非近亲、一级表亲和二级表亲婚姻；嵌合体病例中，这一比例分别为53.3%、26.7%和20.0%。综合所有病例来看，这些比例分别为73.5%、18.1%和8.4%。考虑到伊拉克的近亲结婚率较高（近亲结婚系数 = 0.0225），并通过各种统计比较，这些结果表明缺乏人类减数分裂不分离的遗传控制证据。