A Novel Gap Junction Alpha 8 (GJA8) Mutation Associated with a Congenital Cataract Patient in Pakistan
نویسندگان
چکیده
منابع مشابه
A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract
PURPOSE To characterize the disease-causing mutations in four generations of a Chinese family affected with bilateral congenital nuclear and zonular pulverulent cataract. METHODS Detailed family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Candidate genes were amplified using PCR and screened for mutations using bidirectional sequencing. ...
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C ataract results from a loss in transparency of the crystalline lens. Worldwide, there are an estimated 20 million people blind (Snellen visual acuity of 3/60 or less) as a result of cataract. Despite effective surgical treatment, demand outstrips supply in both Western and developing countries, for many reasons, 3 and other disease modifying strategies must be considered. A strong genetic pre...
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PURPOSE To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited nuclear cataract. METHODS After obtained informed consent, detailed ophthalmic examinations were performed, genomic DNAs were obtained from eighteen family members in a four-generation Chinese family with five affected. All exons of candidate genes were amplified by polymerase chain reaction...
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PURPOSE To identify the genetic defect in an autosomal dominant congenital cataract family, having 15 members in three generations, affected with bilateral cataract that gave the appearance of "full moon" with Y-sutural opacities. METHODS A detailed family history and clinical data were recorded. A genome-wide scan by two point linkage analysis using nearly 400 microsatellite markers in combi...
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PURPOSE To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC). METHODS All individuals in the study underwent a full clinical examination and the details of history were collected . Genomic DNA extracted from peripheral blood was amplified by polymerase chain reaction (PCR) method and the...
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ژورنال
عنوان ژورنال: Pakistan Journal of Zoology
سال: 2017
ISSN: 0030-9923
DOI: 10.17582/journal.pjz/2017.49.4.1365.1372