[Diagnosis of hemophilia A by a combination of St14(DXS52) VNTR polymorphism and (CA)n repeat polymorphism within FVIII gene]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):80-2.
[Article in Chinese]

Abstract

Objective: To improve the accuracy and the diagnostic rate of gene diagnosis and prenatal gene diagnosis for hemophilia A (HA) families.

Methods: Linkage analysis was performed by using St14(DXS52) VNTR polymorphism and intron 13 (CA)n repeat polymorphism of the factor VIII gene among HA families for indirect diagnosis.

Results: The diagnostic rates using linkage analysis based upon one of the above mentioned two polymorphic loci among 9 HA families were 66.7% and 66.7%, respectively. The diagnostic rate rose to 88.9% by using a combination of the two polymorphic loci. Prenatal gene diagnoses were performed for 4 HA families. A wrong prenatal diagnosis which may happen when linkage analysis was performed by using only St14 VNTR was monitored.

Conclusion: The rapid and accurate gene diagnosis and prenatal gene diagnosis could be performed by a combination of the two polymorphic loci for about 90% HA families.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, X / genetics
  • Dinucleotide Repeats / genetics*
  • Factor VIII / genetics*
  • Family Health
  • Female
  • Hemophilia A / diagnosis
  • Hemophilia A / genetics*
  • Humans
  • Male
  • Minisatellite Repeats / genetics*
  • Pedigree
  • Polymorphism, Genetic*
  • Pregnancy
  • Prenatal Diagnosis / methods
  • Reproducibility of Results
  • Sensitivity and Specificity

Substances

  • Factor VIII