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Epidemiology of retinitis pigmentosa in the valencian community (Spain)

 

作者: C. Nájera,   J. M. Millán,   M. Beneyto,   F. Prieto,  

 

期刊: Genetic Epidemiology  (WILEY Available online 1995)
卷期: Volume 12, issue 1  

页码: 37-46

 

ISSN:0741-0395

 

年代: 1995

 

DOI:10.1002/gepi.1370120105

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: retinitis pigmentosa;genetic heterogeneity;segregation analysis;prevalence

 

数据来源: WILEY

 

摘要:

AbstractThe purposes of this study are to determine the frequencies of the different genetic forms of retinitis pigmentosa and to perform segregation analysis in the different genetic subtypes. Retinitis pigmentosa was diagnosed in 263 persons from 132 families. The frequency of the autosomal recessive type was the highest (31.8%) while the X‐linked type was very rare (1.5%). The frequency of autosomal dominant type was 14.4% and the simplex cases constituted half of the total cases of RP registered in our community. In conclusion, in our population the high proportion of simplex cases and the low number of X‐linked families are noticeable. The result of segregation analysis showed good agreement with expectation in autosomal dominant and autosomal recessive families but no more than 60% of all simplex cases were autosomal recessive. The proportion of sporadic cases was estimated statistically to be 39.9% of the total simplex cases. © Wiley‐Lis

 

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