GENE FOR VON RECKLINGHAUSEN NEUROFIBROMATOSIS IS IN THE PERICENTROMERIC REGION OF CHROMOSOME-17
GENE FOR VON RECKLINGHAUSEN NEUROFIBROMATOSIS IS IN THE PERICENTROMERIC REGION OF CHROMOSOME-17
复制标题
DOI：
10.1126/science.3107130
复制
发表时间：
1987-05-29
期刊：
影响因子：
56.9
通讯作者：
SKOLNICK, M
中科院分区：
文献类型：
--
作者：
BARKER, D;WRIGHT, E;SKOLNICK, M
对15例犹他州患者的连锁分析表明，一个导致von Recklinghausen神经纤维瘤病（NF）的基因位于17号染色体的着丝粒附近。这些家庭也没有提供异质性的证据，表明很大比例的NF病例是由于单个基因座的突变。进一步的遗传分析现在可以改进这种定位，并可能导致最终鉴定和克隆导致这种疾病的缺陷基因。
Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eventual identification and cloning of the defective gene responsible for this disorder.