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AIM Distribution of HLA class I and II alleles and haplotype was studied in Pakistani population and compared with the data reported for Caucasoid, Africans, Orientals and Arab populations. MATERIALS AND METHODS HLA class I and II polymorphisms in 1000 unrelated Pakistani individuals was studied using sequence-specific primers and polymerase chain(More)
BACKGROUND Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2). We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH. METHODS A cross sectional study was conducted for the identification of(More)
Prostaglandins produced by Cyclooxygenase-2 enzyme have been implicated to have a role in breast carcinogenesis. Several single nucleotide polymorphisms (SNPs) linked to COX-2 enzyme are reported to modulate its expression. The aim of the present study was to examine association of these SNPs to breast cancer risk in Pakistani patients. Methods In this(More)
OBJECTIVE To determine BRCA1 status in breast carcinoma patients of Pakistani origin. STUDY DESIGN Observational study. PLACE AND DURATION OF STUDY The Oncology Clinics of the Aga Khan University Hospital, Karachi, between May 2005 and December 2009. METHODOLOGY Fifty three breast cancer patients based on clinical and laboratory diagnosis were(More)
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