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Informativeness of St14 VNTR Polymorphic Marker in the Carrier Detection of Hemophilia A Nature Precedings
Beenish Arif; Atif A. Baig; Saqib Mahmood; Mohammad Naeem.
Hemophilia A is the most common hereditary severe disorder of blood clotting. In families affected with hemophilia, genetic analysis provides opportunities to prevent recurrence of the disease. This study establishes a diagnostic strategy for carrier-ship determination in Pakistani population using an extragenic polymorphic marker for the first time. The analysis of St14 VNTR (DXS52) was carried out by polymerase chain reaction (PCR), in order to determine its informativeness in terms of heterozygosity in Pakistani population. This may be a milestone for further analysis of other polymorphic markers for carrier detection and prenatal diagnosis of hemophilia. Seventy eight blood samples (Hemophiliac = 23, Normal = 55) from 15 families were analyzed for...
Tipo: Presentation Palavras-chave: Genetics & Genomics.
Ano: 2010 URL: http://precedings.nature.com/documents/4272/version/1
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