title: [Genetic analysis for a family affected with hemophilia type A due to a large deletion of F8 gene].
abstract: OBJECTIVE
  To detect potential mutation of F8 gene in a family affected with hemophilia type A.
  
  
  METHODS
  Inverse-shifting PCR (IS-PCR), next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and short tandem repeat (STR) assays were used.
  
  
  RESULTS
  IS-PCR showed that no inversion of F8 gene has occurred in the family. NGS detected no point mutation or small InDel in the proband, but suggested that the exon 2 of the F8 gene may be deleted. MLPA also showed that exon 2 of the F8 gene was absent in the proband, while the carriers were heterozygous for the deletion, though STR analysis yielded a paradoxical result.
  
  
  CONCLUSIONS
  NGS analysis has identified a large deletion of exon 2 of the F8 gene in a family affected with hemophilia A. Discretion is required when STR analysis was used for carrier screening and antenatal diagnosis. Combination of multiple methods can improve the accuracy for the detection of F8 gene mutations.
authors.affiliation: Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
authors.forename: Nan
authors.initials: N
authors.lastname: Bai
authors.forename: Shiyue
authors.initials: S
authors.lastname: Mei
authors.forename: Ning
authors.initials: N
authors.lastname: Liu
authors.forename: Zhenhua
authors.initials: Z
authors.lastname: Zhao
authors.forename: Jingjing
authors.initials: J
authors.lastname: Meng
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Kong
mesh_terms: D002648:Child; D005091:Exons / Q000235:genetics; D005169:Factor VIII / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006467:Hemophilia A; D006801:Humans; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: C078147:F8 protein, human; D005169:Factor VIII