Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 612-615, 2011.
Article
em Zh
| WPRIM
| ID: wpr-326882
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify keratin 5 (K5) and keratin 14 (K14) gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls. All the exons of K5 and K14 genes were amplified using polymerase chain reaction (PCR) and directly sequenced.</p><p><b>RESULTS</b>By DNA sequence analysis, a missense mutation in K5 gene (c.237C>T) was detected. The same mutation was not found in non-affected members from the family and normal controls.</p><p><b>CONCLUSION</b>Mutation in K5 gene (c.237C>T) may be responsible for the development of disease in this family.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Patologia
/
Linhagem
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Análise Mutacional de DNA
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Sequência de Bases
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Éxons
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Epidermólise Bolhosa Simples
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Análise de Sequência de DNA
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Hiperpigmentação
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Queratina-14
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Queratina-5
Limite:
Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2011
Tipo de documento:
Article