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巴勒斯坦阿拉伯人中的遗传疾病:1. 近亲结婚的影响。

Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity.

作者信息

Zlotogora J

机构信息

Rosa and David Orzen Human Genetics Clinic, Department of Human Genetics, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.

出版信息

Am J Med Genet. 1997 Feb 11;68(4):472-5. doi: 10.1002/(sici)1096-8628(19970211)68:4<472::aid-ajmg20>3.0.co;2-o.

Abstract

Among Palestinian Arabs the rate of consanguinity is very high and some 44.3% of the marriages are between relatives (22.6% of them between first cousins). In almost 2,000 files from Palestinian Arab families who attended the genetics clinic in the Hadassah Medical Center; we were able to study the effects of consanguinity on different disorders. The consanguinity rate in families with dominant or X-linked disorders and chromosome aberrations was similar to the one observed in the general population. We did not find any significant differences in the rate of consanguineous marriages between the parents and grandparents of children affected with trisomy 21 and the general population. Thus, we were not able to confirm the suggestion that there is an increase risk for trisomies in children/grandchildren of consanguineous parents. Among the parents of patients with rare autosomal recessive disorders the consanguinity rate was much higher than the one of the general population (92.5%). Among the autosomal recessive disorders, which were relatively frequent in the population, there were fewer marriages between relatives; but in most cases the difference from rare disorders is relatively small. The importance of genetic factors in various congenital malformations, such as neural tube defects and cleft lip/palate or in various forms of infertility, was confirmed by the observation of a significantly higher consanguinity rate in the parents of these patients than is observed in the general population.

摘要

在巴勒斯坦阿拉伯人中,近亲结婚率非常高,约44.3%的婚姻是在亲属之间(其中22.6%是表亲之间)。在哈达萨医疗中心遗传门诊的近2000份巴勒斯坦阿拉伯家庭档案中,我们得以研究近亲结婚对不同疾病的影响。患有显性或X连锁疾病以及染色体畸变的家庭中的近亲结婚率与普通人群中观察到的相似。我们没有发现21三体综合征患儿的父母和祖父母的近亲结婚率与普通人群有任何显著差异。因此,我们无法证实近亲结婚的父母所生子女/孙辈患三体综合征风险增加这一说法。在患有罕见常染色体隐性疾病患者的父母中,近亲结婚率远高于普通人群(92.5%)。在人群中相对常见的常染色体隐性疾病中,亲属之间的婚姻较少;但在大多数情况下,与罕见疾病的差异相对较小。通过观察这些患者的父母中近亲结婚率显著高于普通人群,证实了遗传因素在各种先天性畸形(如神经管缺陷和唇腭裂)或各种形式的不孕症中的重要性。

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