title: Mutation screening of Pakistani families with congenital eye disorders.
abstract: To map the disease loci several Pakistani families suffering from autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium and Leber congenital amaurosis (LCA) were analyzed. Analysis revealed close genetic linkage between the disease phenotype of some of the families (3330RP, 111RP and 010LCA) and the microsatellite markers on chromosome 1q31. Mutation screening of the candidate gene CRB1 revealed a G to A transversion in exon 7 in arRP family 330RP and a T to C substitution in another arRP family, 111RP. In exon 9 of the CRB1 gene a T to C transversion was found in the family suffering from LCA (010LCA). The LCA phenotype of another family (011LCA) in which the CRB1 locus was excluded, showed linkage with microsatellite markers D17S1294 and D17S796 on chromosome 17p13.1. The association of the candidate gene GUCY2D (17p13.1) with the disease phenotype was excluded as no disease-associated mutation was found in any of its exons. Mutation screening of another candidate gene, AIPL1 located in the same region, showed a novel homozygous C to A substitution in exon 2. These sequence changes are unique for the Pakistani families and some of these have not been reported previously.
authors.affiliation: Dr A. Q. Khan Research Laboratories, Biomedical and Genetic Engineering Division, 24 Mauve area, P.O. Box 2891, Islamabad, Pakistan. skhaliq@comsats.net.pk
authors.forename: Shagufta
authors.initials: S
authors.lastname: Khaliq
authors.forename: Aiysha
authors.initials: A
authors.lastname: Abid
authors.forename: Abdul
authors.initials: A
authors.lastname: Hameed
authors.forename: Khalid
authors.initials: K
authors.lastname: Anwar
authors.forename: Aisha
authors.initials: A
authors.lastname: Mohyuddin
authors.forename: Zobia
authors.initials: Z
authors.lastname: Azmat
authors.forename: S A
authors.initials: SA
authors.lastname: Shami
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ismail
authors.forename: S Qasim
authors.initials: SQ
authors.lastname: Mehdi
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*