Detection of the gene-deleted female carriers of Duchenne/Becker muscular dystrophy using a fluorescent in situ hybridization based method / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 350-352, 2003.
Artigo
em Chinês
| WPRIM
| ID: wpr-329463
ABSTRACT
<p><b>OBJECTIVE</b>To set up a fluorescent in situ hybridization (FISH) based method to detect the gene-deleted female carriers of Duchenne/Becker muscular dystrophy (DMD/BMD).</p><p><b>METHODS</b>Multiplex polymerase chain reaction was used to identify the gene deletion DMD/BMD probands and their female relatives were checked by double-color FISH.</p><p><b>RESULTS</b>Two probands whose exon 46 of dystrophin gene was deleted, one had a positive pedigree and the other was a sporatic patient. In the case of the positive pedigree, four carriers were detected. In the case of the sporatic family, FISH showed that the mother of the proband was a somatic mosaicism.</p><p><b>CONCLUSION</b>Combined with multiplex PCR, double-color FISH is a simple, fast, directly visual and accurate method. It is feasible to identify the carrier status of the female relatives of the gene deletion DMD/BMD probands. The detection of the somatic mosaicism is a prominent feature of FISH.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Reação em Cadeia da Polimerase
/
Distrofina
/
Hibridização in Situ Fluorescente
/
Deleção de Genes
/
Distrofia Muscular de Duchenne
/
Diagnóstico
/
Genética
/
Métodos
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2003
Tipo de documento:
Artigo
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