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Wiley InterScience | ||
![]() Clinical GeneticsVolume 56 Issue 5, Pages 389 - 393 Published Online: 24 Dec 2001 © 2010 John Wiley & Sons A/S
Abstract | References | Full Text: HTML, PDF (Size: 125K) | Related Articles | Citation Tracking Genetic and segregation analysis of congenital cataract in the Indian population Copyright Munksgaard 1999 KEYWORDS congenital cataract • consanguinity • inheritance • segregation analysis ABSTRACTCongenital cataract is a major cause of blindness in children, and there is wide variation in the few reports available on the frequencies of its different inheritance patterns. Two hundred and fifty-two families with congenital cataract belonging to 13 different states of India, were clinically and genetically investigated to study their inheritance and segregation patterns. Twenty-one percent of the cases were autosomal recessive, 15% autosomal dominant, 63% were simplex cases, and in the remaining cases the inheritance pattern was not clear. A high incidence of consanguinity (50.9%) was observed in autosomal recessive cases. Out of 340 affected individuals, 222 (65.3%) were males and 118 (34.7%) were females. Segregation analysis showed good agreement in autosomal dominant and recessive families and the data are indicative of the prevalence rate for different inheritance patterns of congenital cataract within the Indian population. Received 11 May 1999 |