Identification of twenty-one new mutations in the factor IX gene by SSCP analysis

Hum Mutat. 1999;13(2):160-5. doi: 10.1002/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO;2-C.


In this study we have analyzed the factor IX gene from 84 hemophilia B patients of Spanish origin. It included single-strand conformation polymorphism (SSCP) analysis of all functional regions of the gene and further sequencing of all fragments showing abnormal migration. In 76 patients (90.4%), it was possible to identify molecular alterations leading to the appearance of the disease. Twenty-one new mutations were identified, including 13 missense mutations, two nonsense mutations, three splice-site mutations, one frameshift deletion, one frameshift insertion, and one non-frameshift deletion. The approach appears to be very suitable for molecular diagnosis of hemophilia B.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis / methods
  • Factor IX / genetics*
  • Genetic Carrier Screening
  • Haplotypes
  • Hemophilia B / genetics
  • Humans
  • Mutation / genetics*
  • Polymorphism, Single-Stranded Conformational*
  • Spain


  • Factor IX