Screening of SLC25A13 mutation in the Thai population.

ABSTRACT:

Aim

To determine the prevalence of SLC25A13 mutations in the Thai population.

Methods

A total of 1537 subjects representing the Thai population were screened for a novel pathologic allele p.Met1? (c.2T > C) and six previously known common SLC25A13 mutations: [I] (c.851_854delGTAT), [II] (g.IVS11 + 1G > A), [III] (c.1638_1660dup), [IV] (p.S225X), [V] (IVS13 + 1G > A), and [XIX] (g.IVS16ins3kb) using a newly developed TaqMan and established HybProbe assay, respectively. Sanger sequencing was employed for specimens showing an aberrant peak to confirm the targeted mutation as well as the unknown aberrant peaks detected. Frequencies of the mutations identified were compared in each region. Carrier frequency and disease prevalence of citrin deficiency caused by SCL25A13 mutations

SUBMITTER: Wongkittichote P 

PROVIDER: S-EPMC3837273 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature