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

被引:177
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
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.
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页码:315 / 317
页数:3
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