17号染色体限制性片段长度多态性（RFLPs）在冯雷克林霍增氏神经纤维瘤病（NF1）中的遗传连锁研究。

Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1).

作者信息

Pericak-Vance M A, Yamaoka L H, Vance J M, Small K, Rosenwasser G O, Gaskell P C, Hung W Y, Alberts M J, Haynes C S, Speer M C

机构信息

Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710.

出版信息

Genomics. 1987 Dec;1(4):349-52. doi: 10.1016/0888-7543(87)90036-x.

DOI:10.1016/0888-7543(87)90036-x

PMID:3130305

Abstract

Recent localization of the gene for von Recklinghausen neurofibromatosis (NF1) to chromosome 17 has led to studies to identify additional tightly linked probes that can be used in defining the primary genetic defect in NF1. We have examined and obtained blood for DNA linkage studies on over 250 individuals from 10 multigeneration neurofibromatosis families. We have analyzed 130 members in 7 families with the available chromosome 17 NF1 linked probes, pE51, D17S71, and D17Z1, as well as two probes generated from our own chromosome 17/19 enriched library (LDR92, LDR152A). Tight linkage was found between NF1 and the centromeric probe D17Z1 (theta = 0.04) and between NF1 and D17S71 (theta = 0.08). A definite recombinant was seen for the D17Z1 marker, which previously had not exhibited crossingover. Chromosome 17 DNA markers pE51, LDR92, and LDR152A gave slightly positive scores, which were not statistically significant.

摘要

最近，冯·雷克林豪森神经纤维瘤病（NF1）基因定位于17号染色体，这促使人们开展研究以寻找其他紧密连锁的探针，用于确定NF1的主要遗传缺陷。我们已对来自10个多代神经纤维瘤病家族的250多名个体进行了检查并采集血液用于DNA连锁研究。我们用可获得的与17号染色体NF1连锁的探针pE51、D17S71和D17Z1，以及从我们自己构建的富含17号/19号染色体的文库中得到的两个探针（LDR92、LDR152A），对7个家族中的130名成员进行了分析。发现NF1与着丝粒探针D17Z1之间存在紧密连锁（θ = 0.04），NF1与D17S71之间也存在紧密连锁（θ = 0.08）。对于D17Z1标记观察到一个明确的重组体，该标记此前未出现过交叉互换情况。17号染色体DNA标记pE51、LDR92和LDR152A给出了略为阳性的分数，但无统计学意义。