Report of Confirmation of the rs7853758 and rs885004 Haplotype in SLC28A3.

ABSTRACT:

Aims

To validate a laboratory-developed test for the nucleoside transporter, SLC28A3, which has been associated with an increased risk of anthracycline-induced cardiomyopathy.

Methods

We used Taqman^® allele discrimination to test for two variants of the SLC28A3 gene: rs7853758 (c.1381C>T) and rs885004 (c.862-360C>T).

Results

During the validation process, we noted that several DNA samples obtained from the Coriell Cell Repository (Camden, NJ) were positive for both the c.1381 C > T and c.862-360C>T variants and another variant allele for either c.1381 C > T or c.862-360C>T (e.g., c.1381C>T homozygous/c.862-360C>T heterozygous, c.1381C>T homozygous/c.862-360C>T homozygous). We used de-identified DNA samples from trios of family members (mother, father, and c

SUBMITTER: Stansberry WM 

PROVIDER: S-EPMC6249667 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature