RESUMO
<p><b>OBJECTIVE</b>To study the characteristic of the mutation of neurofilament-light (NF-L) gene in Chinese Charcot-Marie-Tooth disease (CMT) patients.</p><p><b>METHODS</b>Mutation analysis of NF-L gene was made by use of polymerase chain reaction-single strand conformation polymorphsim combined with DNA direct sequencing in 32 CMT probands from the Hans of five provinces in China who had been diagnosed by clinical feature and electromyography and/or biopsy of sural nerve.</p><p><b>RESULTS</b>In 32 CMT probands, only one sporadic case was found to display variant banding pattern, and this case was confirmed as 1329C to T (Tyr443Tyr) single nucleotide polymorphism by sequencing.</p><p><b>CONCLUSION</b>Mutation of NF-L gene may be rare in Chinese CMT patients.</p>
Assuntos
Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sequência de Bases , Doença de Charcot-Marie-Tooth , Genética , China , DNA , Química , Genética , Análise Mutacional de DNA , Dados de Sequência Molecular , Mutação , Proteínas de Neurofilamentos , Genética , Mutação Puntual , Polimorfismo Conformacional de Fita SimplesRESUMO
<p><b>OBJECTIVE</b>To report a Chinese Charcot-Marie-Tooth disease (CMT) family whose proband had abnormal brainstem auditory evoked potentials (BAEPs) and to study its relationship with connexin 32 (Cx32) gene mutation.</p><p><b>METHODS</b>All family members were studied through clinical examinations, out of them, the proband was subjected to electromyography and BAEPs examination. Mutation analysis of Cx32 was screened by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in the proband, 8 family members and 50 unrelated normal individuals.</p><p><b>RESULTS</b>The proband had highly decreased nerve conduction velocities and delayed BAEPs. Leu131Pro mutation was found in the proband and 3 family members, not found in 50 normal controls.</p><p><b>CONCLUSION</b>This mutation has not been reported previously. Central nervous system can be affected in CMT patients.</p>
Assuntos
Feminino , Humanos , Masculino , Povo Asiático , Genética , Doença de Charcot-Marie-Tooth , Genética , Conexinas , Genética , Eletrofisiologia , Potenciais Evocados Auditivos do Tronco Encefálico , Mutação , Linhagem , Reação em Cadeia da Polimerase , Métodos , Polimorfismo Conformacional de Fita Simples , Análise de Sequência de DNARESUMO
Objective To investigate the effect of non-hazard treatment of feces on control of intestinal infectious diseases and parasitosis. Methods During Nov, 2003-May, 2004, we selected 6 counties as observational points by the character of geographical position and the types of non-hazard treatment in Hunan province. The number of fecal coliform and the sedimentation rate of parasite ova were measured, the methods of questionnaire and retrospective study were used and the prevalance rate of intestinal infectious diseases, the incident rate of infectious diarrhea and infectious rate of parasite were analyzed. Results Among three types of non-hazard treatment, the eligibility rates of fecal coliform were 95.0%, 93.5%and 91.7% respectively,and the sedimentation rates of parasite ova were 90.0%, 90.3% and 87.5% respectively. Compared with the villages where the latrines had not been improved, the infectious rates of parasite decreased by 67.0%,the prevalance rate of intestinal infectious diseases decreased by 58.3%, and the incidence rates of infectious diarrhea decreased by 56.3% in villages where the latrines had been improved. Conclusion Non-hazard treatment of feces will play an important role in preventing of intestinal infectious diseases, infectious diarrhea and parasitosis.