Endogamy, consanguinity and community genetics
Endogamy, consanguinity and community genetics
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DOI：
10.1007/bf02715905
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发表时间：
2002-12-01
影响因子：
1.5
通讯作者：
Bittles, AH
中科院分区：
文献类型：
--
作者：
Bittles, AH
印度的人口由数以千计的亚群体组成，按地理、语言、宗教和种姓或父系界限划分，内婚是常态。净效应是产生了具有个体突变特征的多个基因分离株，但到目前为止，这种高度复杂的分化的临床后果在很大程度上被忽视了。相比之下，血缘关系的话题继续吸引着医学和人口遗传学家、临床医生和社会科学家的注意。印度在改善儿童营养状况和防治传染病方面取得了重大进展，这意味着遗传疾病变得越来越重要。在广泛实行近亲婚姻的人群中，隐性遗传疾病将继续在整体健康状况不佳的谱系中获得更大的突出地位。与此同时，城市化和家庭人口小型化将部分抵消这一增长，可以预见，这将导致近亲结合的普遍程度下降。发展对这些变化的理解将需要一种广泛的、多学科的调查方法，而社区遗传学最适合这种方法。
The population of India is composed of many thousands of subpopulations, divided by geography, language, religion and caste or biraderi (patrilineage) boundaries, with endogamous marriage the norm. The net effect has been the creation of multiple genetic isolates with individual mutation profiles, but to date the clinical consequences of this highly complex differentiation have been largely ignored. In contrast, the topic of consanguinity continues to attract attention among medical and population geneticists, clinicians and social scientists. The significant progress made in India in improving childhood nutritional status and combating infectious disease means that genetic disorders have assumed ever-increasing importance. In populations where consanguineous marriage is widely practised, recessive genetic disorders will continue to gain greater prominence in the overall spectrum of ill health. At the same time this increase will in part be negated by urbanization and the move to smaller family sizes, which predictably will result in a decline in the prevalence of consanguineous unions. Developing an understanding of these changes will require a wide-ranging and multidisciplinary investigative approach for which community genetics is ideally suited.