A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia.
case_report · Level V
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- Record sourced from PubMed, PMID 8100857.
- Also identified by PMC identifier 1016428.
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Abstract
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.
Medical subject headings
- Agammaglobulinemia
- Genetic Carrier Screening
- Polymorphism, Restriction Fragment Length
- X Chromosome