[Gene diagnosis of hemophilia B by multiple STR analysis]

Zhonghua Xue Ye Xue Za Zhi. 2002 Mar;23(3):147-50.
[Article in Chinese]

Abstract

Objective: To establish a simple, rapid genetic diagnostic system for haemophilia B.

Methods: The polymorphisms of eight STR loci in 87 normal persons and 8 haemophilia B families were assayed by PCR and genescan, and the linkage relations were analysed.

Results: Six of the eight STR loci can provide genetic information for haemophilia B, and the heterozygosity is 0.50 approximately 0.83, PIC 0.39 approximately 0.80, and DP 0.66 approximately 0.94.

Conclusion: Combination of multiple STR loci analysis could be effective method for genetic diagnosis of haemophilia B.

MeSH terms

  • Female
  • Genetic Carrier Screening / methods
  • Genetic Linkage
  • Genetic Predisposition to Disease*
  • Hemophilia B / diagnosis
  • Hemophilia B / genetics*
  • Humans
  • Male
  • Microsatellite Repeats / genetics*
  • Pedigree
  • Polymorphism, Genetic