印度南部卡纳塔克邦的近亲繁殖与儿童遗传疾病发病率
Inbreeding and the incidence of childhood genetic disorders in Karnataka, South India.
作者信息
Devi A R, Rao N A, Bittles A H
出版信息
J Med Genet. 1987 Jun;24(6):362-5. doi: 10.1136/jmg.24.6.362.
Abstract
Consanguineous marriages are strongly favoured among the populations of South India. In a study conducted on 407 infants and children, a total of 35 genetic diseases was diagnosed in 63 persons: 44 with single gene defects, 12 with polygenic disorders, and seven with Down's syndrome. The coefficient of inbreeding of the total study group, F = 0.0414, was significantly higher than that previously calculated for the general population, F = 0.0271, and autosomal recessive disorders formed the largest single disease category diagnosed. The results suggest that long term inbreeding may not have resulted in appreciable elimination of recessive lethals and sub-lethals from the gene pool.
摘要
近亲结婚在南印度人群中极为常见。在一项针对407名婴幼儿的研究中，共确诊了63人患有35种遗传疾病：44人患有单基因缺陷，12人患有多基因疾病，7人患有唐氏综合征。整个研究组的近亲繁殖系数F = 0.0414，显著高于先前针对普通人群计算得出的F = 0.0271，并且常染色体隐性疾病构成了确诊的最大单一疾病类别。结果表明，长期近亲繁殖可能并未导致基因库中隐性致死基因和亚致死基因的明显消除。
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