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

Overview

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 date

  • June 1, 2003

Research

keywords

  • Chorionic Villi Sampling
  • DNA Mutational Analysis
  • Factor X Deficiency
  • Genetic Linkage
  • Polymorphism, Single Nucleotide

Identity

Scopus Document Identifier

  • 0038799915

Digital Object Identifier (DOI)

  • 10.1002/pd.617

PubMed ID

  • 12813758

Additional Document Info

volume

  • 23

issue

  • 6