Seizinger B R, Farmer G E, Haines J L, Ozelius L J, Anderson K, Korf B R, Parry D M, Pericak-Vance M A, Mulvihill J J, Menon A
Neurogenetics Laboratory, Massachusetts General Hospital, Boston 02114.
Am J Hum Genet. 1989 Jan;44(1):30-2.
The defective gene causing von Recklinghausen neurofibromatosis (NF1), one of the most common inherited disorders affecting the human nervous system, was recently mapped to chromosome 17. We have used additional DNA markers to further narrow and bracket the NF1 defect. A multipoint linkage analysis suggests that the NF1 gene is flanked by D17Z1 on the centromeric side and by EW 207 on the telomeric side of the long arm of chromosome 17. The identification of closely linked flanking markers should allow us to develop a reliable prenatal and presymptomatic diagnostic test for this serious neurological disorder and provides the basis for applying chromosome-specific cloning techniques for the isolation and characterization of the mutant gene.
导致冯·雷克林霍增氏神经纤维瘤病(NF1)的缺陷基因,是影响人类神经系统的最常见遗传性疾病之一,最近被定位到17号染色体上。我们使用了额外的DNA标记,以进一步缩小并确定NF1缺陷的范围。多点连锁分析表明,NF1基因在17号染色体长臂的着丝粒侧被D17Z1包围,在端粒侧被EW 207包围。紧密连锁的侧翼标记的鉴定,应能使我们为这种严重的神经系统疾病开发出可靠的产前和症状前诊断测试,并为应用染色体特异性克隆技术分离和鉴定突变基因提供基础。