A NEW PROBE FOR THE DIAGNOSIS OF MYOTONIC MUSCULAR-DYSTROPHY

被引：67

作者：

BARTLETT, RJ

PERICAKVANCE, MA

YAMAOKA, L

GILBERT, J

HERBSTREITH, M

HUNG, WY

LEE, JE

MOHANDAS, T

BRUNS, G

LABERGE, C

THIBAULT, MC

ROSS, D

ROSES, AD

机构：

[1] DUKE UNIV,MED CTR,DEPT PSYCHIAT,DURHAM,NC 27710

[2] UNIV CALIF LOS ANGELES,LOS ANGELES CTY HARBOR MED CTR,TORRANCE,CA 90509

[3] CHILDRENS HOSP MED CTR,BOSTON,MA 02115

[4] LAVAL UNIV,QUEBEC CITY G1V 462,QUEBEC,CANADA

[5] CONCORD HOSP,CONCORD,NSW 2139,AUSTRALIA

来源：

SCIENCE | 1987年 / 235卷 / 4796期

关键词：

BIOLOGICAL MATERIALS - Chromosomes - PROBES;

D O I：

10.1126/science.3029876

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：

Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have established the locus on chromosome 19. In order to identify tightly linked probes for diagnosis as well as to define in detail the DM gene region, chromosome 19 libraries were constructed and screened for restriction fragment length polymorphisms tightly linked to DM. A genomic clone, LDR152 (D19S19), was isolated that is tightly linked to DM; recombination fraction equals 0. 0 (95% confidence limits 0. 0-0. 03); lod score, 15. 4.

引用

页码：1648 / 1650

页数：3

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