Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.

@article{Riazuddin2005AutosomalRR,
  title={Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.},
  author={Saima Riazuddin and Fareeha Zulfiqar and Qingjiong Zhang and Yuri V. Sergeev and Zaheeruddin Aqil Qazi and Tayyab Husnain and Rafael Caruso and S. Amer Riazuddin and Paul A. Sieving and J Fielding Hejtmancik},
  journal={Investigative ophthalmology & visual science},
  year={2005},
  volume={46 7},
  pages={2264-70}
}
PURPOSE To localize and identify the gene and mutations causing autosomal recessive retinitis pigmentosa in three consanguineous Pakistani families. METHODS Blood samples were collected and DNA was extracted. A genome-wide scan was performed by using 382 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and lod scores were calculated. RESULTS A genome-wide scan of 25 families gave an hlod = 4.53 with D8S260. Retinitis pigmentosa in all three… CONTINUE READING