Schuster V, Kress W, Friedrich W, Grimm T, Kreth H W
Children's Hospital, University of Würzburg, Germany.
Am J Dis Child. 1993 Dec;147(12):1303-5. doi: 10.1001/archpedi.1993.02160360045015.
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.
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.
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.
研究一个德国家庭中X连锁淋巴细胞增生性疾病（XLP）位点的遗传情况。
单倍型分离分析。
德国联邦共和国维尔茨堡大学和乌尔姆大学的儿科与人类遗传学系。
一个患有XLP的家族的14名成员。
无。
测量指标/主要结果：运用分子遗传学技术，我们诊断了一个德国家庭成员的XLP状态。使用紧密连锁的多态性X染色体DNA标记（Xq25 - q27）进行限制性片段长度多态性分析，发现一名女婴为XLP携带者。此外，推测XLP突变发生在祖父的生殖细胞中。
这是关于父系遗传XLP突变的首次报道。XLP中生殖细胞嵌合的复发风险可能与X连锁杜氏肌营养不良症相似。
