Molecular Profiling of FIX (FACTOR 9) Gene of Hemophilia B in Karnataka

Abstract

Introduction: Haemophilia is one of the “Bleeder Disorder” that causes abnormal bleeding or poor blood clotting. It occurs due to the defect in the clotting factors even in their functions and in some cases structures are altered. The frequency of haemophilia is 1 in 10,000 and there are approximately 4,00,000 patients all over the world. Haemophilia B is recessive X- linked genetic disorder. The gene FIX is located on Xq27.1. Present study aims to study the variants in FIX gene of Haemophilia B. Objective: To screen the mutation in Exon-4 and Exon-5 of FIX gene associated Haemophilia B. Methods: 30 Haemophilia B patients' samples were collected from haemophilia societies of Karnataka. Genomic DNA was extracted with standard protocol and region of interest was amplified by polymerase chain reaction. Genetic variation was analysed. Result: Genetic analysis of exon 4 and exon 5 showed4 variants. Exon-4 showed 2 variants; g.15354del T, c. 304 T>C and Exon-5 showed c.314 A>G, c.470G>A variants. All the variants are coding sequence variants. Conclusion: Due to small sample size and small exonic intervention we may not provide exact conclusion, but this variant may lead to potentially abnormal protein for haemophilia.

Keywords

• haemophilia
• variants
• exon