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Study on Duchenne muscular dystrophy gene mutation and prenatal diagnosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 36-39, 2013.
Artigo em Chinês | WPRIM | ID: wpr-232210
ABSTRACT
<p><b>OBJECTIVE</b>To explore the characteristics of DNA mutations underlying Duchenne muscular dystrophy and provide prenatal diagnosis.</p><p><b>METHODS</b>Multiplex ligation-dependent probe amplification (MLPA) and denaturing high performance liquid chromatography (DHPLC) were applied for analyzing DMD gene mutations in 388 unrelated Chinese patients and 53 fetuses.</p><p><b>RESULTS</b>Respectively, 230 and 43 subjects were found to harbor a deletion (59.28%) or duplication (11.08%). Two deletion hotspots were identified, which have located at exons 45-54 and exons 3-19. Duplications were mainly detected at exons 2-43. Point mutations were identified in 29.64% of patients. Fifty three fetuses were prenatal diagnosed, among which 18 were identified as patients.</p><p><b>CONCLUSION</b>Frequencies of DMD gene deletions and duplications in China are similar to global data. Prenatal diagnosis can help to reduce births of DMD patients.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Diagnóstico Pré-Natal / China / Éxons / Distrofina / Distrofia Muscular de Duchenne / Povo Asiático / Genética / Mutação Tipo de estudo: Estudo diagnóstico / Estudo prognóstico Limite: Feminino / Humanos / Masculino / Gravidez País/Região como assunto: Ásia Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2013 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Diagnóstico Pré-Natal / China / Éxons / Distrofina / Distrofia Muscular de Duchenne / Povo Asiático / Genética / Mutação Tipo de estudo: Estudo diagnóstico / Estudo prognóstico Limite: Feminino / Humanos / Masculino / Gravidez País/Região como assunto: Ásia Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2013 Tipo de documento: Artigo