Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
نویسندگان
چکیده
R etinitis pigmentosa (RP) is a major cause of inherited blindness and accounts for 20% of children attending blind schools in Pakistan. Based on the European and American populations, the prevalence is estimated at 1 in 4000 individuals but has been reported to be as high as 1 in 372 in rural areas of South India. Eight loci and 44 genes have been associated with RP (RetNet, http://www.sph.uth.tmc.edu/RetNet). Pakistan is among the countries with the highest prevalence of consanguineous marriages. Consanguineous families are ideally studied by homozygosity mapping to identify the locus harboring the mutated gene causing the disease phenotype. To identify novel mutations and genes causing RP, we studied a panel of 23 consanguineous families with autosomal recessive RP (arRP) from different areas of Pakistan.
منابع مشابه
Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa
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ورودعنوان ژورنال:
- Archives of ophthalmology
دوره 129 10 شماره
صفحات -
تاریخ انتشار 2011