A new locus for autosomal recessive congenital cataract identified in a Pakistani family
نویسندگان
چکیده
PURPOSE To identify the disease locus for autosomal recessive congenital cataract in a consanguineous Pakistani family. METHODS All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and logarithm of odds (LOD) scores were calculated. RESULTS The clinical records and ophthalmological examinations suggested that all affected individuals have nuclear cataracts. Maximum LOD scores of 5.01, 4.38, and 4.17 at theta=0 were obtained with markers D7630, D7S657, and D7S515, respectively. Fine mapping refined the critical interval and suggested that markers in a 27.78 cM (27.96 Mb) interval are flanked by markers D7S660 and D7S799, which co-segregate with the disease phenotype in family PKCC108. CONCLUSIONS We have identified a new locus for autosomal recessive congenital cataract, localized to chromosome 7q21.11-q31.1 in a consanguineous Pakistani family.
منابع مشابه
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p.
PURPOSE To identify the disease locus for autosomal recessive congenital cataracts in two consanguineous Pakistani families. METHODS Two Pakistani families were ascertained, ophthalmologic examination including slit lamp biomicroscopy was performed on all members, blood samples were collected and DNA was extracted. A genome-wide scan was performed using 382 polymorphic microsatellite markers ...
متن کاملMapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q
PURPOSE To identify the disease locus for autosomal recessive congenital cataracts in a consanguineous Pakistani family. METHODS All affected individuals underwent a detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was completed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected famil...
متن کاملMolecular study of a consanguineous family with autosomal recessive mental retardation and speech disorder
Mental retardation (MR) is one of the most frequently found major genetic disorders around the world, affecting 1-3% of the people in the general population. The recent advancement in molecular biology and cytogenetic study has made possible the identification of new genes for a variety of genetic disorders including autosomal recessive MR. Recessive genetic disorders are common in Pakistan due...
متن کاملAutosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1
PURPOSE To identify the pathogenic mutations responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families. METHODS All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected a...
متن کاملAutosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
PURPOSE To investigate the genetic basis of autosomal recessive congenital cataracts in a consanguineous Pakistani family. METHODS All affected individuals underwent a detailed ophthalmological and clinical examination. Blood samples were collected and genomic DNAs were extracted. A genome-wide scan was performed with polymorphic microsatellite markers. Logarithm of odds (LOD) scores were cal...
متن کامل