在一个患有遗传性咖啡牛奶斑的家族中排除神经纤维瘤病1基因座。

Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots.

作者信息

Brunner H G, Hulsebos T, Steijlen P M, der Kinderen D J, vd Steen A, Hamel B C

机构信息

Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.

出版信息

Am J Med Genet. 1993 Jun 1;46(4):472-4. doi: 10.1002/ajmg.1320460428.

DOI:10.1002/ajmg.1320460428

PMID:8357027

Abstract

We have performed linkage analysis in a small family with autosomal dominant inheritance of multiple café-au-lait spots (CLS) in order to clarify its relationship to classical von Recklinghausen disease (NF 1). We found that an affected woman had transmitted a different haplotype for markers flanking the NF1 gene to both of her affected daughters. These results exclude an allelic mutation of the NF 1 gene on chromosome 17 as the cause for inherited café-au-lait spots in this family.

摘要

我们对一个常染色体显性遗传的多发性咖啡牛奶斑（CLS）的小家族进行了连锁分析，以阐明其与经典的冯雷克林霍增氏病（NF 1）的关系。我们发现，一名患病女性将位于NF1基因两侧的标记的不同单倍型分别遗传给了她的两名患病女儿。这些结果排除了17号染色体上NF 1基因的等位基因突变是该家族遗传性咖啡牛奶斑的病因。