[Genetic carrier detection for the Wiskott-Aldrich syndrome using restriction fragment length polymorphism analysis].
The gene for the Wiskott-Aldrich syndrome, an X-linked immunodeficiency disease, has been mapped between the RFLP markers DXS7 and DXS14 on the short arm of the X-chromosome. Close linkage to these markers permits accurate carrier detection and prenatal diagnosis. In one family with WAS patients in two generations, RFLP analysis was applied to three women at risk. It could be determined with more than 98.5% accuracy that these women were not carriers.
de Weers
M
M
Academisch Ziekenhuis, sectie Immunobiologie en Genetica, afd. Immunohematologie en Bloedbank, Leiden.
Kolvenbag
G J
GJ
Versteegde
I F
IF
Hendriks
R W
RW
Sandkuyl
L A
LA
Schuurman
R K
RK
D000328:Adult; D002648:Child; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers / Q000032:analysis; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*
D005819:Genetic Markers
Draagsterschaponderzoek voor het Wiskott-Aldrich-syndroom met behulp van restrictiefragmentlengte-polymorfisme-analyse.