A novel hot-spot mutation S236G in the cardiac myosin binding protein C gene in Chinese patient with hypertrophic cardiomyopathy / 中华心血管病杂志
Chinese Journal of Cardiology
; (12): 1078-1080, 2009.
Article
de Zh
| WPRIM
| ID: wpr-323907
Bibliothèque responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the disease-causing gene mutations and to reveal the relationship between the genotype and the phenotype in Chinese patients with hypertrophic cardiomyopathy (HCM).</p><p><b>METHODS</b>One hundred unrelated patients with HCM and 120 controls were enrolled in this study. The full encoding exons and flanking sequences of the cardiac myosin binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced.</p><p><b>RESULTS</b>A novel missense mutation c.706T > C was identified in exon 6 of MYBPC3 gene in three HCM patients, which resulted a Serine (S) to Glycine (G) exchange at amino acid residue 236 (S236G). The clinical phenotypes of the three patients were different (2 obstructive HCM, 1 non-obstructive HCM). The 120 controls were normal in the genetic test.</p><p><b>CONCLUSIONS</b>The novel S236G mutation in MYBPC3 gene was a hot-spot mutation in Chinese patients with HCM.</p>
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Phénotype
/
Cardiomyopathie hypertrophique
/
ADN
/
Protéines de transport
/
Études cas-témoins
/
Génome humain
/
Asiatiques
/
Génétique
/
Mutation
Type d'étude:
Observational_studies
Limites du sujet:
Adult
/
Female
/
Humans
/
Male
langue:
Zh
Texte intégral:
Chinese Journal of Cardiology
Année:
2009
Type:
Article