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ORIGINAL ARTICLE
Year : 1993  |  Volume : 41  |  Issue : 1  |  Page : 23-25

A genetic analysis of retinitis pigmentosa


1 Department of Genetics, Post Graduate Institute of Basic Medical Sciences, Taramani, Madras, India
2 Human Genetics Division, Department of Biostatistics (GSPH) University of Pittsburgh, Pittsburgh, P.A. U.S.A

Correspondence Address:
Jayashree Shanker
3/7 Anugriha Apts, Service Road, Domlur Layout, Bangalore - 560 071, India

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Source of Support: None, Conflict of Interest: None


PMID: 8225518

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The data consists of sixty probands affected with Retinitis pigmentosa. Syndromic cases were found in five percent of the RP probands. Segregation analysis was carried out on proband sibship data. The ascertainment probability was estimated at 0.5517. Analysis of the data by parental mating types of proband sibships indicated the presence of dominant forms of RP (2.05%). Analysis of proband sibships indicated the presence of low risk families in the Normal x Normal matings (45%) and in the consanguineous matings (40%). The hypothesis of recessive inheritance could be confirmed only in multiplex sibships (p = 0.383 +/- 0.0793). Data on proband matings though incomplete conformed in general to autosomal recessive gene hypothesis.


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