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
in Chinese
| WPRIM
| ID: wpr-232278
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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Ectodermal Dysplasia
/
Molecular Sequence Data
/
Base Sequence
/
China
/
Genetic Predisposition to Disease
/
Ectodysplasins
/
Genetics
/
Heterozygote
/
Mutation
Type of study:
Diagnostic study
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2012
Type:
Article
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