Gene diagnosis of facioscapulohumeral muscular dystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 232-234, 2003.
Article
em Zh
| WPRIM
| ID: wpr-248452
Biblioteca responsável:
WPRO
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>
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1
Base de dados:
WPRIM
Assunto principal:
Cromossomos Humanos Par 4
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Desoxirribonuclease EcoRI
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Mapeamento por Restrição
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Mapeamento Cromossômico
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Distrofia Muscular Facioescapuloumeral
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Técnicas de Diagnóstico Molecular
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Diagnóstico
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Fragmentação do DNA
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Genes
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Genética
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2003
Tipo de documento:
Article