Array-Based Resequencing Assay for Mutations Causing Hypertrophic Cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.
BACKGROUND Dissecting the complex genetic basis of hypertrophic cardiomyopathy (HCM) may be key to both better understanding and optimally managing this most prevalent genetic cardiovascular disease. An array-based resequencing (ABR) assay was developed to facilitate genetic testing in HCM. METHODS An Affymetrix resequencing array and a single long-range PCR protocol were developed to cover t...
متن کامل[Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil].
BACKGROUND Hypertrophic cardiomyopathy (HC) is the most frequent cardiac hereditary disease, caused by mutations in sarcomere protein coding genes. Although more than 430 mutations have been identified in several continents and countries, there have been no reports of mutations in Brazil. OBJECTIVE To carry out a genetic study to identify genetic mutations that cause HC in a group of patients...
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To study the functional consequences of various cardiomyopathic mutations in human cardiac α-tropomyosin (Tm), a method of depletion/reconstitution (D/R) of native Tm and troponin (Tn) complex (Tm-Tn) in cardiac myofibril preparations has been developed. The endogenous Tm-Tn complex was selectively removed from myofibrils and replaced with recombinant wild-type or mutant proteins. Successful de...
متن کاملGene mutations in apical hypertrophic cardiomyopathy.
BACKGROUND Nonobstructive hypertrophy localized to the cardiac apex is an uncommon morphological variant of hypertrophic cardiomyopathy (HCM) that often is further distinguished by distinct giant negative T waves and a benign clinical course. The genetic relationship between HCM with typical hypertrophic morphology versus isolated apical hypertrophy is incompletely understood. METHODS AND RES...
متن کاملMT-CYB mutations in hypertrophic cardiomyopathy
Mitochondrial dysfunction is a characteristic of heart failure. Mutations in mitochondrial DNA, particularly in MT-CYB coding for cytochrome B in complex III (CIII), have been associated with isolated hypertrophic cardiomyopathy (HCM). We hypothesized that MT-CYB mutations might play an important causal or modifying role in HCM. The MT-CYB gene was sequenced from DNA isolated from blood from 91...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2008
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2007.099119