Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23 |
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Authors: | Chitra Kannabiran Hardeep Pal Singh Subhadra Jalali |
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Institution: | (1) Kallam Anji Reddy Molecular Genetics Laboratory, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, L.V. Prasad Marg, Banjara Hills, Hyderabad, 500034, Andhra Pradesh, India;(2) Smt Kannuri Santhamma Retina-Vitreous Centre, L.V. Prasad Eye Institute, L.V. Prasad Marg, Banjara Hills, Hyderabad, 500034, Andhra Pradesh, India;(3) Present address: Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA |
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Abstract: | Retinitis pigmentosa (RP) is a genetically heterogeneous group of retinal degenerative disorders resulting in severe visual
loss and blindness that have remained incurable till date. We report the mapping of the disease locus in a 3-generation family
of Indian origin with autosomal dominant RP (ADRP). Diagnosis of RP and recruitment was made after a complete clinical evaluation
of all members. Manifestations of the disease included night blindness with blurred central vision in some cases, loss of
peripheral vision, and diffuse degeneration of the retinal pigment epithelium. Linkage analysis using microsatellite markers
was carried out on 34 members (14 affected). After testing for linkage to known retinal dystrophy loci as well as a subsequent
genome-wide analysis, we detected linkage to markers on chromosome 6q23: D6S262 at 130 cM, D6S457 (130 cM) and D6S1656 (131 cM)
gave significant 2-point LOD scores of 3.0–3.8. Multipoint LOD scores of ≥3.0 were obtained for markers between 121 and 130 cM.
Haplotype analysis with several markers in the same region on chromosome 6 shows a disease-cosegregating region of about 25 Mb
between 109 and 135 Mb. There are no known RP genes in this interval, which contains >100 genes. This study provides evidence
for a novel ADRP locus on chromosome 6q23. |
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