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...

PURPOSE The purpose of this study was to identify the underlying molecular genetic defect in a large consanguineous Pakistani family with Oguchi disease who had been given a diagnosis of autosomal recessive retinitis pigmentosa. METHODS The family was genotyped with the Affymetrix 10K single nucleotide polymorphism array. Fine-mapping of a common homozygous region on chromosome 13q was perfor...

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...

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...

PURPOSE To investigate the genetic basis of Marinesco-Sjogren syndrome (MSS) in consanguineous Pakistani families. METHODS Two consanguineous Pakistani families with congenital cataract and muscular dystrophy were enrolled for this study. Detailed ophthalmic and systemic examination including slit lamp microscopy, electromyogram and computed tomography scans were performed to characterize the...

We report four cases of congenital diaphragmatic hernia occurring in two generations of a consanguineous Pakistani family. The affected subjects resembled no recognised genetic syndrome. This family provides further evidence for possible autosomal recessive inheritance of congenital diaphragmatic hernia in some cases.

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 ...

PURPOSE To localize and identify the gene and mutations causing autosomal recessive retinal dystrophy in two consanguineous Pakistani families. METHODS Consanguineous families from Pakistan were ascertained to be affected with autosomal recessive retinal degeneration. All affected individuals underwent thorough ophthalmologic examinations. Blood samples were collected, and genomic DNA was ext...

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...

AIMS To examine the uptake of relevant hospital services by families with deaf children and to compare use of these services between Pakistani and white families. METHODS A total of 214 deaf children with amplification aids who attended their paediatric outpatient and school medical appointments from October 2000 to March 2003 were studied in an observational cohort study. RESULTS The demog...