Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis.

ABSTRACT:

Aim

To investigate the differences in the mutation spectra of the SLC25A13 gene mutations from specific regions of China.

Methods

Genetic analyses of SLC25A13 mutations were performed in 535 patients with neonatal intrahepatic cholestasis from our center over eight years. Unrelated infants with at least one mutant allele were enrolled to calculate the proportion of SLC25A13 mutations in different regions of China. The boundary between northern and southern China was drawn at the historical border of the Yangtze River.

Results

A total of 63 unrelated patients (about 11% of cases with intrahepatic cholestasis) from 16 provinces or municipalities in China had mutations in the SLC25A13 gene, of these 16 (25%) were homozygotes, 28 (44%) were compound heterozygotes and 19 (

SUBMITTER: Chen R 

PROVIDER: S-EPMC3725380 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature