Mutation analysis of beta myosin heavy chain gene in hypertrophic cardiomyopathy families / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 387-392, 2011.
Article
in Chinese
| WPRIM
| ID: wpr-326927
ABSTRACT
<p><b>OBJECTIVE</b>To detect the gene mutations of beta-myosin heavy chain gene (MYH7) in Chinese pedigrees with hypertrophic cardiomyopathy (HCM), and to analyze the correlation between the genotype and phenotype.</p><p><b>METHODS</b>Exons 3, 5, 7-9, 11-16 and 18-23 of the MYH7 gene were amplified with PCR in three Chinese pedigrees with HCM. The products were sequenced. Sequence alignment between the detected and the standard sequences was performed.</p><p><b>RESULTS</b>A missense mutation of Thr441Met in exon 14 was identified in a pedigree, which was not detected in the controls. Several synonymous mutations of MYH7 gene were detected in the three pedigrees.</p><p><b>CONCLUSION</b>The mutation of Thr441Met, located in the actin binding domain of the globular head, was first identified in Chinese. It probably caused HCM. HCM is a heterogeneous disease. Many factors are involved in the process of its occurrence and development.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Phenotype
/
Cardiomyopathy, Hypertrophic
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Chemistry
/
Amino Acid Sequence
/
Myosin Heavy Chains
/
Cardiac Myosins
Type of study:
Prognostic study
Limits:
Animals
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2011
Type:
Article
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