Samina Jalali, Farhat Jabeen, Salma Sultana, Shami S A, Shagufta Khaliq, Muhammad Ismail, Aiysha Abid, Muhammad Nasir.
Identification of LCA4 locus in a Pakistani consanguineous kindred suffering from a distinct type of Leber`s Congenital Amaurosis (LCA).
Ann Pak Inst Med Sci Jan ;1(3):162-6.

Objectives: To determine the disease locus involved in autosomal recessive Leber`s Congenital Amaurosis (LCA). Subjects and Methods: In this study a five-generation Pakistani consanguineous family suffering from LCA was ascertained. The molecular studies were carried out at Biomedical and Genetic Engineering Division, KRL, Islamabad. Genomic DNA was amplified across the polymorphic microsatellite markers. Polymerase chain reaction (PCR) products were separated by non-denaturing polyacrylamide gel electrophoresis. Alleles were assigned to individuals, which allowed LOD score calculations using the Cyrillic and MLINK software program. Results: Seven individuals of the family were processed for molecular studies. These included four affected and three normal individuals. Of four blind individuals three were males and one female. Linkage analysis for known loci of autosomal recessive Leber`s congenital amaurosis (arLCA), autosomal recessive macular degeneration (arMD), autosomal recessive and dominant cone rod dystrophy and recessive, dominant and denovo Leber`s congenital amaurosis was carried out. Two point LOD score analysis with LCA4 locus (17p13.1) resulted in maximum LOD score (Z max) of 2.06 for marker D17S1832 at 0=0. Conclusions: Linkage was found with LCA4 locus (17p13.1).

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