Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 207-210, 2004.
Article
in Zh
| WPRIM
| ID: wpr-328917
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To study the mutation feature of ganglioside-induced differentiation associated protein-1 (GDAP1) gene in Chinese Charcot-Marie-Tooth disease(CMT) patients.</p><p><b>METHODS</b>Mutation analysis was carried out by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing of the six exons and their flanking regions of GDAP1 gene in twenty-three CMT patients, including 8 probands of autosomal recessive CMT families and 15 sporadic patients.</p><p><b>RESULTS</b>A compound heterozygous mutation A533G and A767G were unveiled in one autosomal recessive CMT kindred. The homozygous and heterozygous T507G were common SNPs in Chinese population.</p><p><b>CONCLUSION</b>A533G and A767G of GDAP1 gene were new mutations firstly reported.</p>
Full text:
1
Index:
WPRIM
Main subject:
Charcot-Marie-Tooth Disease
/
Polymerase Chain Reaction
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Sequence Analysis, DNA
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Polymorphism, Single-Stranded Conformational
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Genetics
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Mutation
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Nerve Tissue Proteins
Limits:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2004
Type:
Article