Abstract
To study the inheritance of the X-linked lymphoproliferative disease (XLP) locus in a German family. Haplotype segregation analysis. Departments of Pediatrics and Human Genetics, University of Würzburg and University of Ulm, Federal Republic of Germany. Fourteen members of a family with XLP. None. Using molecular genetic techniques, we diagnosed the XLP status of the members of a German family. Restriction fragment length polymorphism analysis with closely linked polymorphic X-chromosomal DNA markers (Xq25-q27) revealed XLP carrier status in a female infant. Moreover, the XLP mutation was suggested to have occurred in the germ cell of the grandfather. This is the first report of a paternally inherited XLP mutation. The recurrence risk for germ cell mosaicism in XLP may be similar to that of X-linked Duchenne muscular dystrophy.
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