A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia.

AUTOR(ES)

Sweatman, A

RESUMO

The gene responsible for X linked agammaglobulinaemia (XLA) lies in Xq22 and has recently been identified as atk. DXS101 is a polymorphic locus which is closely linked to the disease locus. In this report we describe the identification, by pulsed field gel electrophoresis, of a new polymorphism at the DXS101 locus with a predicted heterozygosity of 4.9%. Despite this low value, we show how this polymorphism has been important in carrier status determination in a family with XLA where assessment was not possible by other means.

Documentos Relacionados

• Neutropenia associated with X-linked agammaglobulinaemia.
• Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.
• A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.
• Isolation of the defective gene in X linked agammaglobulinaemia.
• Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms.