Linkage analysis of three families with arrythmogenic right ventricular cardiomyopathy in India.
Indian J Hum Genet
;
2009 May; 15(2): 54-59
Artigo
em Inglês
| IMSEAR
| ID: sea-138871
ABSTRACT
BACKGROUND:
Arrythmogenic Right Ventricular Cardiomyopathy (ARVC) is a primary myocardial disorder morphologically characterized by subtle to severe replacement of the right ventricular myocardium by fatty and fibrous tissue. ARVC is known to be highly prevalent in European population with recent reports implicating it to be a major cause of sudden death in young individuals even from American and Asian population.AIM:
To implicate or exclude TMEM43 (ARVC-5), DSP(ARVC-8) genes and the yet to be identified gene at ARVC-6 locus in the pathogenesis in three families affected with ARVC from India. MATERIALS ANDMETHODS:
Three families comprising of 42 affected/unaffected members were included in the study. Three microsatellite markers, D3S3613 (ARVC5) D10S1664 (ARVC6), D6S309 (ARVC8) were genotyped by PCR-based native PAGE. Two-point Linkage analysis was performed using LINKAGE program version 5.2 RESULTS ANDDISCUSSION:
LOD scores from linkage analysis for the microsatellite marker D10S1664 (ARVC-6) in families KS and REV have shown positive value hinting the involvement of this locus in the etiology of ARVC, while linkage analysis in the SB family ruled out involvement of DSP, TMEM43 and ARVC-6, as negative LOD scores were obtained with all three loci. Therefore, linkage analysis carried out in the present study indicates that ARVC-6 (cumulative LOD score is equal to plus 1.203376 at θ is equal to 0.05) could be the locus harboring the mutated gene in two out of three families.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Feminino
/
Humanos
/
Masculino
/
Família
/
Criança
/
Reação em Cadeia da Polimerase
/
Mutagênese Insercional
/
Morte Súbita Cardíaca
/
Repetições de Microssatélites
/
Adulto
Tipo de estudo:
Estudo prognóstico
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2009
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS