Mutations in the ED1 gene in families with X-linked hypohidrotic ectodermal dysplasia / 中华口腔医学杂志
Chinese Journal of Stomatology
;
(12): 272-275, 2007.
Article
in Chinese
| WPRIM
| ID: wpr-333345
ABSTRACT
<p><b>OBJECTIVE</b>To detect mutations in the ED1 gene in two Chinese pedigrees and a sporadic case with X-linked hypohidrotic ectodermal dysplasia (XLHED) and provide evidences with the mutation analysis for genetic counseling, prenatal diagnosis and confirmation of carrier status.</p><p><b>METHODS</b>Peripheral blood samples were obtained from two pedigrees and the sporadic patient, and genomic DNA was extract by salting out method. Polymerase chain reaction (PCR) and direct sequencing were performed to screen mutations in ED1 gene.</p><p><b>RESULTS</b>Three mutations were identified. In one of the pedigrees, a 1045G > A transition was evidenced in exon 9 that resulted in a change of Ala 349 Thr. In the other pedigrees and the sporadic patient, 467G > A and 466C > T transitions were demonstrated in exon 3 that resulted in change of Arg 156 His and Arg 156 Cys. These mutations were not found in 100 normal individuals.</p><p><b>CONCLUSIONS</b>These mutations were responsible for the disease in the two families and the sporadic patient. All these mutations had been identified previously.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
DNA Mutational Analysis
/
Mutation, Missense
/
Ectodermal Dysplasia 1, Anhidrotic
/
Ectodysplasins
/
Genetics
Limits:
Child
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Stomatology
Year:
2007
Type:
Article
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