Prenatal diagnosis of factor X deficiency using a combination of direct mutation detection and linkage analysis with an intragenic single nucleotide polymorphism

Prenat Diagn. 2003 Jun;23(6):457-60. doi: 10.1002/pd.617.

Abstract

Objective: To present a family in which it was possible to perform prenatal diagnosis for recessively inherited factor X deficiency using both direct mutation detection as well as linkage analysis.

Methods: In a family where both parents were known to be carriers of factor X deficiency, fetal DNA was obtained from an ongoing pregnancy by CVS in the first trimester. Direct DNA sequencing was used to detect a previously identified factor X mutation, and linkage analysis using a single nucleotide polymorphism (SNP) was used to follow the segregation of the other parent's factor X alleles.

Results: Our studies predicted the fetus in question to be a heterozygote carrier of factor X deficiency, and this was demonstrated to be correct at birth.

Conclusions: This is the first reported case of prenatal diagnosis of factor X deficiency. In addition, this case demonstrates the remarkable utility of SNPs in linkage analysis of rare genetic disorders.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chorionic Villi Sampling*
  • DNA / blood
  • DNA Mutational Analysis / methods*
  • Factor X Deficiency / diagnosis*
  • Factor X Deficiency / genetics*
  • Female
  • Fetal Blood
  • Genetic Linkage*
  • Heterozygote
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics*
  • Pregnancy
  • Pregnancy Trimester, First

Substances

  • DNA