Detection of ED1 gene mutations in six pedigrees with hypohidrotic ectodermal dysplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 447-451, 2012.
Article
em Zh
| WPRIM
| ID: wpr-232278
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify potential mutations of ED1 gene in six pedigrees with hypohidrotic ectodermal dysplasia (HED), and to provide genetic counseling and prenatal diagnosis.</p><p><b>METHODS</b>Eight coding exons of ED1 gene of patients with clinically diagnosed HED and their relatives were amplified by polymerase chain reaction (PCR). The products were further analyzed by direct sequencing.</p><p><b>RESULTS</b>Various mutations of ED1 gene were detected, which included R153C, A349T, G299S, A349T and X392Q. Heterozygous double peaks at the same position were found in female carriers. Deletion of exon 9 was detected in one pedigree. R153C, X392Q and deletion of exon 9 were first identified in ethnic Han Chinese.</p><p><b>CONCLUSION</b>The identified mutations of ED1 gene may be responsible for the disease. Genetic counseling, prenatal diagnosis and carrier screening are now available for these families.</p>
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Linhagem
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Displasia Ectodérmica
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Dados de Sequência Molecular
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Sequência de Bases
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China
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Predisposição Genética para Doença
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Ectodisplasinas
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Genética
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Heterozigoto
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Mutação
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
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2012
Tipo de documento:
Article