Suppr超能文献

巴勒斯坦阿拉伯人中的遗传疾病:3. 一个村庄中的常染色体隐性疾病

Genetic disorders among Palestinian Arabs: 3. Autosomal recessive disorders in a single village.

作者信息

Zlotogora J, Shalev S, Habiballah H, Barjes S

机构信息

Department of Community Genetics, Ministry of Health, Ramat Gan, Israel.

出版信息

Am J Med Genet. 2000 Jun 19;92(5):343-5. doi: 10.1002/1096-8628(20000619)92:5<343::aid-ajmg9>3.0.co;2-i.

Abstract

Autosomal recessive diseases are common in the Arab population of Israel, mostly as a result of the high rate of consanguinity. They represent a major factor in the mortality and morbidity of the population. Since the distribution of genetic disorders in this population is not uniform, the present study was performed to determine the frequency and impact of recessive disorders within a single village. We demonstrate the existence of at least 19 autosomal recessive disorders in a village of about 8,600 inhabitants chosen at random. Since most of the disorders were chronic, the prevalence of recessive conditions in the village at the time of the study was at least 1/70, leading to a very high burden to the population and the health services.

摘要

常染色体隐性疾病在以色列的阿拉伯人群中很常见,这主要是由于近亲结婚率高。它们是该人群死亡率和发病率的一个主要因素。由于该人群中遗传疾病的分布并不均匀,因此开展了本研究以确定单个村庄内隐性疾病的发生率及其影响。我们证明,在一个随机选取的约8600名居民的村庄中,至少存在19种常染色体隐性疾病。由于大多数疾病都是慢性病,在研究时,该村庄隐性疾病的患病率至少为1/70,给人群和卫生服务带来了非常高的负担。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验