Analysis of EDA gene mutation for a family affected with X-linked hypohidrotic ectodermal dysplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 274-276, 2013.
Article
Dans Chinois
| WPRIM
| ID: wpr-237268
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations of EDA gene for a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia (XLHED).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood of the proband, his relatives and 50 non-related healthy controls. Exonic sequences of the EDA gene were subjected to polymerase chain reaction amplification and direct sequencing.</p><p><b>RESULTS</b>A c.467G> A mutation (R156H) was detected in exon 3 of the EDA gene in the proband, his mother, 2 uncles, and 1 aunt. The same mutation was not detected in the 50 non-related healthy controls.</p><p><b>CONCLUSION</b>A c.467G>A mutation of the EDA gene probably underlies the disease in the family.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Séquence nucléotidique
/
Exons
/
Diagnostic
/
Dysplasie ectodermique anhidrotique de type 1
/
Ectodysplasines
/
Génétique
/
Génotype
/
Mutation
Type d'étude:
Etude diagnostique
Limites du sujet:
Enfant
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2013
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS