Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop D T, Carey J, Baty B, Kivlin J
Science. 1987 May 29;236(4805):1100-2. doi: 10.1126/science.3107130.
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.
对15个犹他州家族进行的连锁分析表明,一个导致冯雷克林霍增氏神经纤维瘤病(NF)的基因位于17号染色体着丝粒附近。这些家族也没有显示出基因异质性的证据,这表明相当一部分NF病例是由单个基因座的突变引起的。进一步的基因分析现在可以优化这种定位,并可能最终导致对导致这种疾病的缺陷基因的识别和克隆。