GENETIC AND PHYSICAL MAP OF THE VONRECKLINGHAUSEN NEUROFIBROMATOSIS (NF1) REGION ON CHROMOSOME-17

被引：24

作者：

YAGLE, MK ^{[1
]}

PARRUTI, G ^{[1
]}

XU, W ^{[1
]}

PONDER, BAJ ^{[1
]}

SOLOMON, E ^{[1
]}

机构：

[1] UNIV CAMBRIDGE,DEPT PATHOL,CANC RES CAMPAIGN,HUMAN CANC GENET RES GRP,CAMBRIDGE CB2 1QP,ENGLAND

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1990年 / 87卷 / 18期

关键词：

Genetic linkage; Hereditary disease; Long-range physical mapping;

D O I：

10.1073/pnas.87.18.7255

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The von Recklinghausen neurofibromatosis 1 (NF1) locus has been previously assigned to the proximal long arm of chromosome 17, and two NF1 patients have been identified who have constitutional balanced translocations involving 17q11.2. We have constructed a cosmid library from a chromosome-mediated gene transfectant, KLT8, that contains approximately 10% of chromosome 17, including 17q11.2. Cosmids isolated from this library have been mapped across a panel of somatic cell hybrids, including the hybrids from the two patients, and have been localized to seven small regions of proximal 17q. We have 5 cosmids that map directly above the two NF1 translocations, and 11 cosmids that map directly below. Of these, 2 cosmids in each region are linked to the disease locus and 3 of these cosmids show no recombination. One distal cosmid, 2B/B35, detects the two NF1 translocations by pulsed-field gel analysis and has been used to produce a long-range restriction map that covers the translocations.

引用

页码：7255 / 7259

页数：5