Kar B, John S, Kumaramanickavel G
Department of Genetics & Molecular Biology, Vision Research Foundation, Madras, India.
Clin Genet. 1995 Feb;47(2):75-9. doi: 10.1111/j.1399-0004.1995.tb03927.x.
Seventy-eight families with retinitis pigmentosa, presenting at the genetic clinic of Sankara Nethralaya, Madras, over a period of 6 months (from April to September 1993), were assessed to determine the different genetic types: 9% were autosomal dominant; 36%, autosomal recessive; 3%, X-linked recessive; 44%, isolated cases and 8%, undetermined genetic type. A high incidence of consanguinity was observed in autosomal recessive (57%) and isolated cases (37%). Segregation analysis showed good agreement in autosomal dominant (chi 2 = 0.864) and recessive families (p = 0.222). The high proportion of autosomal recessive and isolated cases in this study, when compared with other similar studies, is due to the high incidence of consanguineous marriages in the Indian subcontinent.
在6个月内（1993年4月至9月），于马德拉斯桑卡拉奈特拉亚眼科遗传门诊就诊的78个患有色素性视网膜炎的家庭，接受了评估以确定不同的遗传类型：9%为常染色体显性遗传；36%为常染色体隐性遗传；3%为X连锁隐性遗传；44%为散发病例；8%为遗传类型未确定。在常染色体隐性遗传（57%）和散发病例（37%）中观察到近亲结婚的高发生率。分离分析显示常染色体显性遗传（卡方=0.864）和隐性遗传家庭（p=0.222）的结果吻合良好。与其他类似研究相比，本研究中常染色体隐性遗传和散发病例的高比例是由于印度次大陆近亲结婚的高发生率。
