Identification of a novel frameshift mutation of human androgen receptor gene in a patient featuring complete androgen insensitivity syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 99-101, 2013.
Article
Dans Chinois
| WPRIM
| ID: wpr-232195
ABSTRACT
<p><b>OBJECTIVE</b>To identify potential mutation of human androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS).</p><p><b>METHODS</b>DNA sequences of 8 exons and exon/intron boundaries of the AR gene were amplified with PCR and directly sequenced.</p><p><b>RESULTS</b>DNA sequencing has revealed a frameshift mutation due to deletion of nucleotide C at position 3507 in exon 6, which gave rise to a stop codon resulting premature termination for translation.</p><p><b>CONCLUSION</b>A novel frameshift mutation in exon 6 of AR gene probably underlies the disease in our patient.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phénotype
/
Syndrome d'insensibilité aux androgènes
/
Séquence nucléotidique
/
Récepteurs aux androgènes
/
Exons
/
Mutation avec décalage du cadre de lecture
/
Diagnostic
/
Génétique
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2013
Type:
Article
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