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
in Chinese
| WPRIM
| ID: wpr-230004
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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Asian People
/
Ectodermal Dysplasia 1, Anhidrotic
/
Ectodysplasins
/
Genetic Association Studies
/
Genetics
/
Mutation
Type of study:
Diagnostic study
Limits:
Humans
Language:
Chinese
Journal:
Acta Academiae Medicinae Sinicae
Year:
2007
Type:
Article
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