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<p><b>OBJECTIVE</b>To identify potential mutation in a Chinese family affected with Charcot-Marie-Tooth disease(CMT).</p><p><b>METHODS</b>Clinical data of the family was collected, and genomic DNA was extracted from peripheral blood samples of the family members. Seventy-two candidate genes of the proband were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing. The protein structure was predicted with PyMOL-1 software.</p><p><b>RESULTS</b>A homozygous missense mutation c.1894G>A(p.E632K) was identified in the exon 11 of the SH3TC2 gene in the proband. Heterozygous c.1894G>A mutation was also detected in the proband's father, mother and daughter, but not in the healthy family members and 300 normal controls. Retrieval of the NCBI, HGMD and 1000 genome databases has verified the c.1894G>A to be as a novel mutation. Computer simulation has suggested that the mutation has altered the 3D structure of the SH3TC2 protein.</p><p><b>CONCLUSION</b>The proband was diagnosed as CMT4C, for which the underlying gene was SH3TC2. This finding has expanded the spectrum of SH3TC2 mutation in association with CMT4C.</p>
Asunto(s)
Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Secuencia de Bases , Enfermedad de Charcot-Marie-Tooth , Genética , Análisis Mutacional de ADN , Exones , Heterocigoto , Modelos Moleculares , Datos de Secuencia Molecular , Mutación Missense , Linaje , Proteínas , GenéticaRESUMEN
As a neotype learning mode, team-based learning has been applied in some medical schools and has become one of the most common self-regulated learning modes around the world. According to the process of team-based learning in medical classes at University of British Columbia in Canada. In terms of its effects, we discuss its advantages and shortcomings, and analyze its application status and im-plementation difficulties in China, and then propose several suggestions on domestic medical education.
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To improve the quality of postgraduate students,school of medicine of Shanghai Jiao Tong University have offered medical molecular genetics course to postgraduates and obtained good teaching efficiency. More than ten professors gave lectures on the academic foreland,leading students to find and solve academic problems and training practical and innovative ability of students. Accord-ing to the questionnaires of evaluation of the course and suggestions from postgraduates in the recent two years,some recommendations for the further teaching reform were proposed,such as using multi-plex teaching models,strengthening communication for teaching information with the students,em-ploying comprehensive evaluation methods and strengthening coordination and management of the course.
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This paper shortly introduced the MIT President Susan Hockfield's ideas about three life-science revolutions from the middle of the 20th century to now.Then,writers investigated the problems of interdisciplinary combination between medicine and engineering in research universities of China,and put forward some suggestion aboat how to face the third life-science revolution.
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Objective To investigate teaching situation of Introduction to Medicine at SJTUSM,and to make more progress in educational reforms. Methods By analyzing questionnaire and test paper,the relevant information was collected and analyzed by SPSS statistics software. Results Teaching the course at SJTUSM was basically satisfactory. Conclusion The investigation showed that the teaching quality of the course is being improved. However,the quality guarantee system of teaching process needs to be further perfected.