Rao N A, Devi A R, Savithri H S, Rao S V, Bittles A H
Department of Biochemistry, Indian Institute of Science, Bangalore.
Clin Genet. 1988 Jul;34(1):60-3. doi: 10.1111/j.1399-0004.1988.tb02616.x.
Consanguineous marriages are strongly favoured among the peoples of South India. Because of the potential genetic risks resulting from inbreeding, a neonatal screening project was established in 1980 in the state of Karnataka for the identification of amino acidaemias. To date, blood samples obtained by toe-stab from 98,256 neonates have been tested by thin layer chromatography, with 46 single and 70 general amino acidaemias detected. The coefficients of inbreeding (F) for the two groups of neonates were 0.0336 and 0.0350, by comparison with a previously determined F value for the general, new-born population of 0.0298. The most common single abnormality detected was tyrosinaemia, with spontaneous resolution in the majority of cases.
近亲结婚在南印度各民族中极为常见。由于近亲繁殖存在潜在的遗传风险，1980年在卡纳塔克邦启动了一项新生儿筛查项目，以识别氨基酸血症。迄今为止，已通过薄层色谱法对98256名新生儿足跟采血获得的血样进行了检测，共检测出46种单一氨基酸血症和70种一般氨基酸血症。两组新生儿的近亲繁殖系数（F）分别为0.0336和0.0350，而此前测定的普通新生儿群体的F值为0.0298。检测到的最常见单一异常是酪氨酸血症，大多数病例可自发缓解。
