V Schuster, W Kress, W Friedrich, T Grimm, H W Kreth
{"title":"x连锁淋巴细胞增生性疾病。用单倍型分析检测一个德国家庭的父系遗传突变。","authors":"V Schuster, W Kress, W Friedrich, T Grimm, H W Kreth","doi":"10.1001/archpedi.1993.02160360045015","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To study the inheritance of the X-linked lymphoproliferative disease (XLP) locus in a German family.</p><p><strong>Design: </strong>Haplotype segregation analysis.</p><p><strong>Setting: </strong>Departments of Pediatrics and Human Genetics, University of Würzburg and University of Ulm, Federal Republic of Germany.</p><p><strong>Participants: </strong>Fourteen members of a family with XLP.</p><p><strong>Interventions: </strong>None.</p><p><strong>Measurements/main results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 12","pages":"1303-5"},"PeriodicalIF":0.0000,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160360045015","citationCount":"9","resultStr":"{\"title\":\"X-linked lymphoproliferative disease. Detection of a paternally inherited mutation in a German family using haplotype analysis.\",\"authors\":\"V Schuster, W Kress, W Friedrich, T Grimm, H W Kreth\",\"doi\":\"10.1001/archpedi.1993.02160360045015\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To study the inheritance of the X-linked lymphoproliferative disease (XLP) locus in a German family.</p><p><strong>Design: </strong>Haplotype segregation analysis.</p><p><strong>Setting: </strong>Departments of Pediatrics and Human Genetics, University of Würzburg and University of Ulm, Federal Republic of Germany.</p><p><strong>Participants: </strong>Fourteen members of a family with XLP.</p><p><strong>Interventions: </strong>None.</p><p><strong>Measurements/main results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":75474,\"journal\":{\"name\":\"American journal of diseases of children (1960)\",\"volume\":\"147 12\",\"pages\":\"1303-5\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1993-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160360045015\",\"citationCount\":\"9\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American journal of diseases of children (1960)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1001/archpedi.1993.02160360045015\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American journal of diseases of children (1960)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1001/archpedi.1993.02160360045015","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
X-linked lymphoproliferative disease. Detection of a paternally inherited mutation in a German family using haplotype analysis.
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.
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