Mutation analysis and prenatal diagnosis for a family affected with congenital factor VII deficiency / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To provide mutation analysis and prenatal diagnosis for a family affected with congenital factor VII(FVII) deficiency.</p><p><b>METHODS</b>DNA was extracted from peripheral blood samples from the proband and his parents. All exons and flanking sequence of the FVII gene were amplified with PCR and subjected to direct sequencing. Prenatal diagnosis was performed by amniocentesis.</p><p><b>RESULTS</b>A homozygous mutation (NM_000131.3) c.572-1G>A was identified in the proband. Both parents of the fetus were carriers of the mutation.</p><p><b>CONCLUSION</b>A method for molecular diagnosis of congenital factor VII deficiency was established and successfully applied for an affected family.</p>