A new RFLP marker, SP282, at the btk locus for genetic analysis in X-linked agammaglobulinaemia families

Prenat Diagn. 1994 Jun;14(6):493-6. doi: 10.1002/pd.1970140614.

Abstract

X-linked agammaglobulinaemia is an inherited recessive disease in which the primary defect lies in the failure of pre-B cells to develop into mature circulating B cells, due to a defective B-cell cytoplasmic tyrosine kinase (btk). For this study we introduced a new RFLP marker, SP282, which is tightly linked to the XLA locus. In conjunction with the marker DXS178, SP282 was used to identify a carrier female and predict her male offspring to be normal. Subsequently the fetus was shown to have a normal number of circulating B cells, and at 2.5 years of age, the non-affected phenotype of the child was confirmed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Agammaglobulinemia / diagnosis
  • Agammaglobulinemia / genetics*
  • B-Lymphocytes
  • Female
  • Genetic Linkage*
  • Genetic Markers*
  • Humans
  • Lymphocyte Count
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length*
  • Pregnancy
  • Prenatal Diagnosis*
  • X Chromosome*

Substances

  • Genetic Markers