Publications (3)9.04 Total impact
- Human Genetics 09/2009; 126(2):332. · 4.52 Impact Factor
- Human Genetics 08/2009; 126(2):332. · 4.52 Impact Factor
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ABSTRACT: Hemophilia B, an X-linked recessive bleeding disorder is caused by deficiency of clotting factor 1X protein. In an attempt to understand the molecular basis of hemophilia B which is a rare disease in Pakistan, we analyzed amplified genomic DNA from 20 patients (ages 3-36 years) with different ethnic back-grounds. Eleven mutations were identified in 15 out of 20 patients with mutation detection efficacy of 75%. Out of thes e 11mutations, 9 have been described earlier and these included: 7 missense and 2 nonsense mutations. The remaining 2 mutations are novel and are not listed in the hemophilia B mutation databases. These are: a 6bp insertion (CCTGCT) (Ser-Lys) in exon5 at codon110 in the second epidermal growth factor (EGF2) domain, which increases the length of domain by a little; and the other is a deletion of nucleotide #946(AAA_-AA) (-Lys) in exon8 at codon316, located in one of highly variable surface loops resulting in frame-shift in catalytic domain of the protein. Five SNPs in exons 6, 7 and 8, which are only one of its kinds, were present in Pakistan i hemophilia B patients.