Clinical and genetic analysis of a pedigree of Kennedy disease / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 555-558, 2011.
Article
Dans Chinois
| WPRIM
| ID: wpr-247214
ABSTRACT
<p><b>OBJECTIVE</b>To review the clinical and genetic features of a pedigree of Kennedy disease in China.</p><p><b>METHODS</b>The clinical data of patients from a Kennedy disease family were collected. The numbers of trinucleotide CAG repeats in exon 1 of the androgen receptor gene were determined by DNA sequencing and repeat fragment analysis.</p><p><b>RESULTS</b>In the pedigree, 4 patients were identified as Kennedy disease. Clinical manifested with adult-onset, progressive proximal limb muscle weakness and atrophy, gynecomastia, oligospermia were also presented. The number of trinucleotide CAG repeats in exon 1 of the androgen receptor gene was 51 in the proband. The electrophysiological study showed sensory and motor involvement and their serum triglycerides values were elevated significantly.</p><p><b>CONCLUSION</b>Androgen receptors gene testing is the most reliable diagnosing method, the patients suspected as Kennedy disease should have a gene testing of androgen receptors.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Récepteurs aux androgènes
/
Répétitions de trinucléotides
/
Diagnostic
/
Amyotrophie bulbospinale liée à l'X
/
Génétique
Type d'étude:
Etude diagnostique
Limites du sujet:
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Journal of Zhejiang University. Medical sciences
Année:
2011
Type:
Article
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