No evidence for linkage of familial hypertrophic cardiomyopathy and chromosome 14q1 locus D14S26 in a chinese family: evidence for genetic heterogeneity

Ko, Yu‐Lin; Lien, Wan‐Ching; Chen, Jin Jer; Wu, Chen Wen; Tang, Tang K.; Liew, Choong Chin

doi:10.1007/bf00221945

Cited by 13 publications

(2 citation statements)

References 16 publications

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“…DNA fragments were separated by agarose gel electrophoresis and transferred to Nytran filters (Schleicher & Schuell) according to the method of Southern (1975) with slight modifications. The Nytran filters were hybridized to the labeled DNA probes and washed under high stringency conditions as described in our laboratory (Ko et al 1992). The probes used are established polymorphic markers on chromosome 1 lp15.5 and were obtained from Amersham (U.K).…”

Section: Dna Analysismentioning

confidence: 99%

No evidence for linkage of long QT syndrome and chromosome 11p15.5 markers in a Chinese family: evidence for genetic heterogeneity

Chen

Tang

et al. 1994

Hum Genet

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Recently the defective gene locus in seven Caucasian families with the Romano-Ward form of long QT syndrome (LQT) has been mapped to chromosome 11p. To understand the molecular basis of LQT in Chinese, a three-generation family was investigated. Fourteen family members were studied and five individuals were diagnosed to be affected, according to electrocardiographic criteria. Two genomic DNA probes (c-Ha-ras-3'-HVR and insulin-5'-HVR) and one tetranucleotide repeat polymorphism (THZ) derived from chromosome 11p15.5 loci and previously demonstrated to be closely linked to LQT were used as probes to analyze this family. A lod score of less than -2 was noted for all three polymorphisms. Our data show that there was no evidence of linkage between these three loci and the gene for LQT in this studied family. We believe that this result provides additional evidence for genetic heterogeneity of LQT.

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Section: Dna Analysismentioning

confidence: 99%

No evidence for linkage of long QT syndrome and chromosome 11p15.5 markers in a Chinese family: evidence for genetic heterogeneity

Chen

Tang

et al. 1994

Hum Genet

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“…Chinese researchers began to focus on familial cardiomyopathies in the 1990s, and the first genetic linkage analysis was published in 1996 2 , 3 . Currently, in terms of the relevant research, China is on the same wavelength as the international cardiovascular research community and is in fact leading in some domains.…”

Section: Introductionmentioning

confidence: 99%

Cardiomyopathies in China: A 2018–2019 state‐of‐the‐art review

Hua

Zhang

2020

Chronic Diseases and Translational Medicine

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Cardiomyopathies are diseases of the cardiac muscle and are often characterized by ventricular dilation, hypertrophy, and cardiac arrhythmia. Patients with cardiomyopathies often experience sudden death and cardiac failure and require cardiac transplantation during the course of disease progression. Early diagnosis, differential diagnosis, and genetic consultation depend on imaging techniques, genetic testing, and new emerging diagnostic tools such as serum biomarkers. The molecular genetics of cardiomyopathies has been widely studied recently. The discovery of mechanisms underlying heterogeneity and overlapping of the phenotypes of cardiomyopathies has revealed the existence of disease modifiers, and this has led to the emergence of novel disease-modifying therapy. This 2018–2019 state-of-the-art review outlines the pathogenesis, diagnosis, and treatment of cardiomyopathies in China.

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Hereditary dilated cardiomyopathy

McMinn

Ross

1995

Clinical Cardiology

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Summary: Dilated cardiomyopathy (DCM) is a common and important cause of morbidity and mortality. Many factors can contribute to the development of this disorder, although most commonly the etiology is unexplained. However, recent studies in individuals with idiopathic DCM now reveal a heritable cause in 20-30% of individuals. Diverse modes of inheritance have been demonstrated, encompassing an autosomal dominant type (by far the most common), together with recessive and X-linked forms, and maternal inheritance through mitochondrial DNA. The hereditary forms of DCM (HDCM) predominantly affect the left ventricle, although inherited abnormalities affecting primarily the right ventricle also are described. HDCM may occur as a primary cardiomyopathy, or secondary to inherited systemic metabolic or neuromuscular disorders. The causative genes for primary HDCM of the autosomal dominant and recessive types have not yet been discovered, but the combination of family pedigree analysis and phenotyping by echocardiography, together with new genetic techniques, should now allow their identification. Knowledge of the gene or genes responsible for HDCM would improve diagnostic accuracy, facilitate genetic counseling, advance understanding of pathogenesis, and provide the starting point for new methods of treatment. Because of the frequently heritable nature of DCM, it is of great importance that a diligent search for all potentially affected family members be undertaken.

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No evidence for linkage of familial hypertrophic cardiomyopathy and chromosome 14q1 locus D14S26 in a chinese family: evidence for genetic heterogeneity

Cited by 13 publications

References 16 publications

No evidence for linkage of long QT syndrome and chromosome 11p15.5 markers in a Chinese family: evidence for genetic heterogeneity

No evidence for linkage of long QT syndrome and chromosome 11p15.5 markers in a Chinese family: evidence for genetic heterogeneity

Cardiomyopathies in China: A 2018–2019 state‐of‐the‐art review

Hereditary dilated cardiomyopathy

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