American journal of diseases of children (1960) · 1993
X-linked lymphoproliferative disease. Detection of a paternally inherited mutation in a German family using haplotype analysis.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Schuster V, Kress W, Friedrich W, Grimm T, Kreth H W
Аннотация
OBJECTIVE: To study the inheritance of the X-linked lymphoproliferative disease (XLP) locus in a German family.
DESIGN: Haplotype segregation analysis.
SETTING: Departments of Pediatrics and Human Genetics, University of Würzburg and University of Ulm, Federal Republic of Germany.
PARTICIPANTS: Fourteen members of a family with XLP.
INTERVENTIONS: None.
MEASUREMENTS/MAIN RESULTS: 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.
CONCLUSION: 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.
DESIGN: Haplotype segregation analysis.
SETTING: Departments of Pediatrics and Human Genetics, University of Würzburg and University of Ulm, Federal Republic of Germany.
PARTICIPANTS: Fourteen members of a family with XLP.
INTERVENTIONS: None.
MEASUREMENTS/MAIN RESULTS: 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.
CONCLUSION: 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.