ASSIGNMENT OF A 2ND CHARCOT-MARIE-TOOTH TYPE-II LOCUS TO CHROMOSOME-3Q

被引:0
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作者
KWON, JM
ELLIOTT, JL
YEE, WC
IVANOVICH, J
SCAVARDA, NJ
MOOLSINTONG, PJ
GOODFELLOW, PJ
机构
[1] WASHINGTON UNIV,SCH MED,DEPT SURG,DIV GEN SURG,ST LOUIS,MO 63110
[2] WASHINGTON UNIV,SCH MED,DEPT NEUROL,ST LOUIS,MO 63110
[3] WASHINGTON UNIV,SCH MED,DEPT PEDIAT,DIV MED GENET,ST LOUIS,MO 63110
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中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Charcot-Marie-Tooth disease (CMT) is the most common inherited motor and sensory neuropathy. The neuronal form of this disorder is referred to as Charcot-Marie-Tooth type II disease (CMT2). CMT2 is usually inherited as an autosomal dominant trait with a variable age at onset of symptoms associated with progressive axonal neuropathy. In some families, the locus that predisposes to CMT2 has been demonstrated to map to the distal portion of the short arm of chromosome 1. Other families with CMT2 do not show linkage with Ip markers, suggesting genetic heterogeneity in CMT2. We investigated linkage in a single large kindred with autosomal dominant CMT2. The gene responsible for CMT2 in this kindred (CMT2B) was mapped to the interval between the microsatellite markers D3S1769 and D3S1744 in the 3q13-22 region. Study of additional CMT2 kindreds should serve to further refine the disease gene region and may ultimately lead to the identification of a gene defect that underlies the CMT2 phenotype.
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页码:853 / 858
页数:6
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