SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr.

ABSTRACT:

Background

Heterozygous and homozygous carriers of SCN5A-p.Ser1103Tyr, a common genetic variant with functional effects among African-Americans, have an increased risk of sudden death. We hypothesized that some heterozygous carriers may have unequal expression of wild-type and variant alleles and secondarily that predominance of the variant gene copy could further increase risk for sudden death in this population.

Methods

We quantified allele-specific expression of SCN5A-p.Ser1103Tyr by real-time reverse-transcription polymerase chain reaction (RT-PCR) in heart tissue from heterozygous African-American infants, who died from sudden infant death syndrome (SIDS) or from other causes, to test for allelic expression imbalance.

Results

We observed significant allelic expre

SUBMITTER: Killen SA 

PROVIDER: S-EPMC2891713 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature