Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
; (6): 201-204, 2007.
Article
em Zh
| WPRIM
| ID: wpr-230004
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia</p><p><b>METHODS</b>Eight coding exons of ED1 gene of two patients with clinically confirmed X-linked hypohidrotic ectodermal dysplasia, their parents, and 100 unrelated population-matched control were amplified by polymerase chain reaction. The products were further analyzed by direct sequencing.</p><p><b>RESULTS</b>Two patients with X-linked hypohidrotic ectodermal dysplasia in this pedigree showed a point mutation at nucleotide 1 045 ( A > G) . Meanwhile, heterozygous double peaks of nucleotide G and A at the same position were found in their mother, but not in their father and 100 unrelated population-matched controls.</p><p><b>CONCLUSION</b>The c. 1 045A > G mutation of ED1 gene may be the pathologic cause of this Chinese family with X-linked hypohidrotic ectodermal dysplasia.</p>
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Linhagem
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Povo Asiático
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Displasia Ectodérmica Anidrótica Tipo 1
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Ectodisplasinas
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Estudos de Associação Genética
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Genética
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Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
Zh
Revista:
Acta Academiae Medicinae Sinicae
Ano de publicação:
2007
Tipo de documento:
Article