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>
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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