[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 22(5): 510-3, 2005 Oct.
Article
em Zh
| MEDLINE
| ID: mdl-16215937
ABSTRACT
OBJECTIVE:
To investigate the features of small heat shock protein 27 (HSP27) gene mutation in Chinese patients with Charcot-Marie-Tooth disease (CMT).METHODS:
DNA samples from 114 CMT probands were screened for mutations in HSP27 gene by polymerase chain reaction and direct sequencing, and haplotype analysis was further carried out on the mutation detected families.RESULTS:
One missense mutation C379T was detected in 4 autosomal dominant CMT2 families. Haplotype analysis indicated that the 4 families probably had a common ancestor.CONCLUSION:
To the authors' knowledge, this is the first report of HSP27 gene mutation in Chinese patients with CMT, but it may be not common(0.90%). The C379T mutation in HSP27 gene also causes CMT2 except for distal hereditary motor neuropathy, thus providing further evidence that even the same mutation in the same gene may lead to distinct phenotypes.
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Bases de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
/
Proteínas de Choque Térmico HSP27
/
Mutação
Limite:
Female
/
Humans
/
Male
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2005
Tipo de documento:
Article