Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.

ABSTRACT:

Background

Hemophilia B (HB) is an X-linked recessive inherited bleeding disorder caused by mutations in the F9 gene that lead to plasma factor IX deficiency. To identify the causative mutations in HB, a molecular analysis of HB pedigrees in China was performed.

Methods

Using next-generation sequencing (NGS) and an in-house bioinformatics pipeline, 76 unrelated HB pedigrees were analyzed. The mutations identified were validated by comparison with the results of Sanger sequencing or Multiplex Ligation-dependent Probe Amplification assays. The pathogenicity of the causative mutations was classified following the American College of Medical Genetics and Genomics guidelines.

Results

The mutation detection rate was 94.74% (72/76) using NGS. Of the 76 HB pedigrees analyzed,

SUBMITTER: Huang L 

PROVIDER: S-EPMC7667291 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature