Genetic etiology of nuclear cataract: evidence for a major gene.
Sibling correlations and segregation analysis were used to examine the familial distribution of age-sex-adjusted measures of nuclear sclerosis in 1,247 individuals from 564 sibships in the Beaver Dam Eye Study. There are highly significant sibling correlations for all sibs, and separately for sister-sister, sister-brother, and brother-brother pairs. Two transformed normal distributions give the best fit to the data. The hypothesis of mendelian transmission of a major effect cannot be rejected, but the hypothesis of a random environmental major effect is rejected. The parameters of the tau AB free model showed close similarity to the values expected under a mendelian hypothesis. Our results suggest that a single major gene can account for 35% of the total variability of age-sex-adjusted measures of nuclear sclerosis.
Heiba
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Department of Biometry and Genetics, LSU Medical Center, New Orleans 70112.
Elston
R C
RC
Klein
B E
BE
Klein
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R
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002386:Cataract / Q000235:genetics*; D005260:Female; D006801:Humans; D016013:Likelihood Functions; D008297:Male; D008875:Middle Aged