Molecular analysis of two pedigrees with hereditary F VII deficiency / 中华血液学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the mutation of coagulation factor VII (F VII) gene in two pedigrees with hereditary F VII deficiency.</p><p><b>METHODS</b>F VII gene mutations were analysed in two propositi and their family members by direct DNA sequencing. Allele specific PCR and PCR combined with restricted enzyme digestion were used to confirm the detected mutations.</p><p><b>RESULTS</b>Two gene mutations were detected in the propositus of pedigree A G to C transition at position 6390 resulting in Trp40Cys and G to A at 11496 resulting in Arg353Gln, both are heterozygotes. The heterozygosity for polymorphism Arg353Gln was confirmed with the restriction enzyme Msp I digestion in his mother. In the propositus of pedigree B, there was a T to G transition at position 11482 resulting in His348Gln, heterozygosity of which was confirmed with Nsp I digestion in the propositus and his daughter. G to T transition at position 11514 resulting in Thr359Met was also found in the propositus of pedigree B, and the heterozygosity for Thr359Met was confirmed with allele specific PCR in the propositus and his son.</p><p><b>CONCLUSION</b>Three missense mutations were found in two pedigrees with hereditary F VII deficiency. A novel Trp40Cys mutation was reported for the first time.</p>