MAPPING THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY GENE IS COMPLICATED BY CHROMOSOME-4Q35 RECOMBINATION EVENTS

被引：63

作者：

WEIFFENBACH, B

DUBOIS, J

STORVICK, D

TAWIL, R

JACOBSEN, SJ

GILBERT, J

WIJMENGA, C

MENDELL, JR

WINOKUR, S

ALTHERR, MR

SCHULTZ, P

OLANDT, S

FRANTS, RR

PERICAKVANCE, M

GRIGGS, RC

机构：

[1] UNIV ROCHESTER,DEPT NEUROL,ROCHESTER,NY 14642

[2] UNIV CALIF SAN DIEGO,LA JOLLA,CA 92093

[3] DUKE UNIV,DEPT MED,DURHAM,NC 27710

[4] LEIDEN UNIV,DEPT HUMAN GENET,MGC,2300 RA LEIDEN,NETHERLANDS

[5] OHIO STATE UNIV,DEPT NEUROL,COLUMBUS,OH 43210

[6] UNIV CALIF IRVINE,DEPT BIOL CHEM,IRVINE,CA 92717

[7] LANL,CTR HUMAN GENOME STUDIES,LOS ALAMOS,NM 87545

[8] UNIV CALIF SAN DIEGO,DEPT NEUROSCI,LA JOLLA,CA 92093

来源：

NATURE GENETICS | 1993年 / 4卷 / 02期

关键词：

D O I：

10.1038/ng0693-165

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A gene responsible for facioscapulohumeral muscular dystrophy (FSHD) has been linked to polymorphisms on chromosome 4q35. Multipoint linkage analyses have placed this gene distal to all reported genetic markers on the chromosome. By using as a probe a clone isolated from a cosmid containing sequences related to a homeobox domain, de novo DNA rearrangements were reported in sporadic and familial cases of FSHD. Linkage analysis of an EcoRI polymorphism detected by this clone in twenty-four multigenerational FSHD families revealed recombinants between this marker and the disease with a recombination fraction of 0.05. Two families with apparent germline mosaicism were also identified.

引用

页码：165 / 169

页数：5

共 28 条

[11]

LANMAN JT, 1987, AM J HUM GENET, V41, P138

[12] ESTIMATION OF AGE-DEPENDENT PENETRANCE IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY BY MINIMIZING ASCERTAINMENT BIAS [J].