Genetic studies of the Roma (Gypsies): a review.
Genetic studies of the Roma (Gypsies): a review.
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DOI：
10.1186/1471-2350-2-5
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发表时间：
2001
影响因子：
--
通讯作者：
Calafell F
中科院分区：
文献类型：
--
作者：
Kalaydjieva L;Gresham D;Calafell F
社会科学和基因研究提供的数据表明，今天生活在欧洲的800万至1000万吉普赛人最好地被描述为遗传上孤立的创始人群体的集团。以罗姆人为主要单位的罗姆人所观察到的传统社会结构与不同创立者群体的边界、人口历史和生物关联性之间的关系似乎很复杂，人口遗传学研究没有解决这一问题。最近的医学遗传学研究已经发现了一些由私人创始人突变引起的新的或以前已知的但罕见的疾病。本审查中提供的研究结果摘要应有助于受影响家庭的诊断和咨询，并促进未来的合作研究。现有的不完全流行病学数据表明，致病突变在罗姆人群体中非随机分布。虽然远没有系统化，但公布的信息表明，医学遗传学在改善这一贫困和被遗忘的欧洲人的健康方面发挥着重要作用。一些孟德尔疾病的报告携带率在5%-15%之间，足以证明新生儿筛查和早期治疗是合理的，或者对目前没有治疗方法的疾病实施基于社区的教育和携带者检测计划。为了使单基因疾病的流行病学研究更有成效，未来的单基因疾病流行病学研究应考虑到社会组织和文化人类学，从而使公共卫生方案成为目标，并有助于了解罗姆人的人口结构和人口历史。
Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies. Recent medical genetic research has identified a number of novel, or previously known but rare conditions, caused by private founder mutations. A summary of the findings, provided in this review, should assist diagnosis and counselling in affected families, and promote future collaborative research. The available incomplete epidemiological data suggest a non-random distribution of disease-causing mutations among Romani groups. Although far from systematic, the published information indicates that medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe. Reported carrier rates for some Mendelian disorders are in the range of 5 -15%, sufficient to justify newborn screening and early treatment, or community-based education and carrier testing programs for disorders where no therapy is currently available. To be most productive, future studies of the epidemiology of single gene disorders should take social organisation and cultural anthropology into consideration, thus allowing the targeting of public health programs and contributing to the understanding of population structure and demographic history of the Roma.