LINKAGE OF TUNISIAN AUTOSOMAL RECESSIVE DUCHENNE-LIKE MUSCULAR-DYSTROPHY TO THE PERICENTROMERIC REGION OF CHROMOSOME 13Q

被引：178

作者：

BENOTHMANE, K

BENHAMIDA, M

PERICAKVANCE, MA

BENHAMIDA, C

BLEL, S

CARTER, SC

BOWCOCK, AM

PETRUKHIN, K

GILLIAM, TC

ROSES, AD

HENTATI, F

VANCE, JM

机构：

[1] INST NATL NEUROL, TUNIS, TUNISIA

[2] UNIV TEXAS, SW MED CTR, DEPT PEDIAT, DALLAS, TX 75235 USA

[3] COLUMBIA UNIV, NEW YORK, NY 10032 USA

来源：

NATURE GENETICS | 1992年 / 2卷 / 04期

关键词：

D O I：

10.1038/ng1292-315

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Autosomal recessive Duchenne-like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbred DLMD families from Tunisia were analysed for chromosomal linkage using 135 polymorphic microsatellite markers. A significant lod score of z = 9.15 at theta = 0.03 was found with the 13q12 locus D13S115. Two additional 13q12 markers, D13S143 and D13S120, also gave significant lod scores. Therefore, the primary DLMD defect gene lies in the pericentrometric region of chromosome 13q.

引用

页码：315 / 317

页数：3

共 25 条

[1]

AZII K, 1991, CYTOGENET CELL GENET, V58, P1907

[2]

BECKMANN JS, 1991, CR ACAD SCI III-VIE, V312, P141

[3]

BENHAMIDA M, 1980, ADV NEW TRENDS, V527, P43

[4]

BENJELLOUNDELLAGI S, 1990, NEUROLOGY, V40, P1903

[5] REPORT OF THE COMMITTEE ON METHODS OF LINKAGE ANALYSIS AND REPORTING [J].

CONNEALLY, PM ;

EDWARDS, JH ;

KIDD, KK ;

LALOUEL, JM ;

MORTON, NE ;

OTT, J ;

WHITE, R .

CYTOGENETICS AND CELL GENETICS, 1985, 40 (1-4) :356-359

[6] PROGRESSIVE MUSCULAR DYSTROPHY OF THE DUCHENNE TYPE IN FEMALES AND ITS MODE OF INHERITANCE [J].

DUBOWITZ, V .

BRAIN, 1960, 83 (03) :432-+

[7] GENERAL MODEL FOR GENETIC ANALYSIS OF PEDIGREE DATA [J].

ELSTON, RC ;

STEWART, J .

HUMAN HEREDITY, 1971, 21 (06) :523-&

[8]

EMERY AEH, 1987, OXFORD MONOGRAPHS ME, V15, P75

[9] DUCHENNE-LIKE MUSCULAR-DYSTROPHY IN THE ARABS [J].

FARAG, TI ;

TEEBI, AS .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (02) :290-290

[10] ASSIGNMENT OF THE GENE FOR WILSON DISEASE TO CHROMOSOME-13 - LINKAGE TO THE ESTERASE-D LOCUS [J].

FRYDMAN, M ;

BONNETAMIR, B ;

FARRER, LA ;

CONNEALLY, PM ;

MAGAZANIK, A ;

ASHBEL, S ;

GOLDWITCH, Z .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (06) :1819-1821

← 1 2 3 →