Screening for homozygosity by descent in families with autosomal recessive retinitis pigmentosa

Journal of genetics

Subhadra Jalali¹  Chitra Kannabiran1²  Tejas Kadakia²  Kota Lalitha² 

[1]Smt. Kannuri Santhamma Retina-Vitreous Services, L. V. Prasad Eye Institute, L. V. Prasad Marg, Banjara Hills, Hyderabad 500 034, India$$

[2]Molecular Genetics, Prof. Brien Holden Eye Research Centre and Hyderabad Eye Research Foundation, L. V. Prasad Marg, Banjara Hills, Hyderabad 500 034, India$$

关键词: retinitis pigmentosa;    candidate gene;    homozygosity screening.;   

DOI  :  

学科分类：生物科学（综合）

来源: Indian Academy of Sciences

【 摘 要 】

Retinitis pigmentosa (RP) is a genetically heterogeneous disease and an important cause of blindness in the state of Andhra Pradesh in India. In an attempt to identify the disease locus in families with the recessive form of the disease, we used the approach of screening for homozygosity by descent in offspring of consanguineous and nonconsanguineous families with RP. Microsatellite markers closely flanking 21 known candidate genes for RP were genotyped in parents and affected offspring to determine whether there was homozygosity at these loci that was shared by affected individuals of a family. This screening approach may be a rapid preliminary method to test known loci for possible cosegregation with disease.

【 授权许可】

Unknown