[Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia].
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
; 29(2): 201-4, 2007 Apr.
Article
em Zh
| MEDLINE
| ID: mdl-17536268
ABSTRACT
OBJECTIVE:
To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasiaMETHODS:
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.RESULTS:
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.CONCLUSION:
The c. 1 045A > G mutation of ED1 gene may be the pathologic cause of this Chinese family with X-linked hypohidrotic ectodermal dysplasia.
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Base de dados:
MEDLINE
Assunto principal:
Displasia Ectodérmica Anidrótica Tipo 1
/
Ectodisplasinas
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
Zh
Ano de publicação:
2007
Tipo de documento:
Article