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西方城市中东裔的遗传转诊:近亲繁殖与疾病谱

Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile.

作者信息

Hoodfar E, Teebi A S

机构信息

F Clarke Fraser Clinical Genetics Unit, Montreal Children's Hospital and McGill University, Canada.

出版信息

J Med Genet. 1996 Mar;33(3):212-5. doi: 10.1136/jmg.33.3.212.

Abstract

Inbreeding or consanguineous marriage is a common traditional practice in Middle Eastern cultures. Studies from various countries and communities of this region showed that the frequencies range from 20% to greater than 70%. Inbreeding is known to have adverse effects on morbidity and mortality, in particular with respect to autosomal recessive disorders. This study examined 200 couples representing all referrals of Middle Eastern origin seen at a large Clinical Genetics Unit in Montreal. They were compared with a similar sized group of different cultural backgrounds from among the same referrals. The rate of intercultural marriages and inbreeding was found to be 24% and 23.5% respectively in the Middle Eastern group, while they were 22.5% and 5% in the comparison group. Excluding the referrals for consanguinity only, the rate of inbreeding among the study group was 16.4%. Within the Middle Eastern group, autosomal recessive disorders were more than twice as common in the inbred than in the non-inbred families, the pattern of which is consistent with previous observations.

摘要

近亲繁殖或近亲结婚是中东文化中一种常见的传统习俗。来自该地区不同国家和社区的研究表明,近亲繁殖的频率在20%至70%以上。众所周知,近亲繁殖会对发病率和死亡率产生不利影响,尤其是对于常染色体隐性疾病。本研究调查了蒙特利尔一家大型临床遗传学单位接收的所有中东裔转诊病例中的200对夫妇。将他们与同一转诊病例中文化背景不同、规模相似的一组人进行了比较。结果发现,中东组的跨文化婚姻率和近亲繁殖率分别为24%和23.5%,而对照组的这两个比率分别为22.5%和5%。仅排除近亲结婚的转诊病例后,研究组中的近亲繁殖率为16.4%。在中东组内部,近亲繁殖家庭中常染色体隐性疾病的发病率是非近亲繁殖家庭的两倍多,这一模式与之前的观察结果一致。

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