Gene diagnosis of facioscapulohumeral muscular dystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 232-234, 2003.
Artigo
em Chinês
| WPRIM
| ID: wpr-248452
ABSTRACT
<p><b>OBJECTIVE</b>To observe the characteristics of changes of p13E-11 labelled 4q35 EcoRI fragments and to make a gene diagnosis of facioscapulohumeral muscular dystrophy(FSHD).</p><p><b>METHODS</b>Genomic DNA was extracted and was digested by EcoR I /Bln I. After pulsed field gel electrophoresis, it was hybridized with probe p13E-11 by Southern blot. The illness was diagnosed as FSHD when the 4q35 EcoRI fragment was smaller than 38 kb.</p><p><b>RESULTS</b>In 26 cases of FSHD, the fragments of 20 cases were smaller than 38 kb. The positive rate was 76.92%. In 12 cases of FSHD family members, the fragments of 2 cases were smaller than 38 kb. All fragments of the 21 controls were greater than 38 kb.</p><p><b>CONCLUSION</b>It was rather good to use <38 kb as a standard for diagnosis of FSHD. The positive rate of FSHD was similar to that from the references.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomos Humanos Par 4
/
Desoxirribonuclease EcoRI
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Mapeamento por Restrição
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Mapeamento Cromossômico
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Distrofia Muscular Facioescapuloumeral
/
Técnicas de Diagnóstico Molecular
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Diagnóstico
/
Fragmentação do DNA
/
Genes
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2003
Tipo de documento:
Artigo
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