Teebi A S
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
J Med Genet. 1994 Mar;31(3):224-33. doi: 10.1136/jmg.31.3.224.
Kuwait has a cosmopolitan population of 1.7 million, mostly Arabs. This population is a mosaic of large and small minorities representing most Arab communities. In general, Kuwait's population is characterized by a rapid rate of growth, large family size, high rates of consanguineous marriages within the Arab communities with low frequency of intermarriage between them, and the presence of genetic isolates and semi-isolates in some extended families and Bedouin tribes. Genetic services have been available in Kuwait for over a decade. During this time it has become clear that Arabs have a high frequency of genetic disorders, and in particular autosomal recessive traits. Their pattern is unique and some disorders are relatively common. Examples are Bardet-Biedl and Meckel syndromes, phenylketonuria, and familial Mediterranean fever. A relatively large number of new syndromes and variants have been delineated in Kuwait's population, many being the result of homozygosity for autosomal recessive genes that occurred because of inbreeding. Some of these syndromes have subsequently been found in other parts of the world, negating the concept of the private syndrome. This paper provides an overview of autosomal recessive disorders among the Arabs in Kuwait from a personal perspective and published studies, and highlights the need for genetic services in Arab countries with the goal of prevention and treatment of genetic disorders.
科威特拥有170万人口，种族多样，其中大多数为阿拉伯人。这个群体是由代表大多数阿拉伯社区的大大小小的少数群体拼凑而成的。总体而言，科威特人口的特点是增长速度快、家庭规模大、阿拉伯社区内近亲结婚率高，而不同社区之间的通婚频率低，并且在一些大家庭和贝都因部落中存在基因隔离群体和半隔离群体。科威特提供基因服务已有十多年。在此期间，很明显阿拉伯人患遗传病的频率很高，尤其是常染色体隐性性状。其模式独特，一些疾病相对常见。例如巴德-比埃尔综合征、梅克尔综合征、苯丙酮尿症和家族性地中海热。在科威特人群中已经确定了相对大量的新综合征和变异，其中许多是由于近亲繁殖导致常染色体隐性基因纯合的结果。这些综合征中的一些后来在世界其他地区也被发现，这否定了“私人综合征”的概念。本文从个人角度和已发表的研究对科威特阿拉伯人中的常染色体隐性疾病进行了概述，并强调阿拉伯国家为预防和治疗遗传病而提供基因服务的必要性。
