Correlation between mutation of MDR3 gene exon 6 and parenteral nutrition‑associated cholestasis of preterm infants

Yang,Xiu  Fang; Liu,Guo  Sheng; Yi,Bing

doi:10.3892/etm.2014.1980

Correlation between mutation of MDR3 gene exon 6 and parenteral nutrition‑associated cholestasis of preterm infants

Authors:
- Xiu Fang Yang
- Guo Sheng Liu
- Bing Yi
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Affiliations: Department of Neonatology, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong 510630, P.R. China, Department of Neonatology, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong 510630, P.R. China, Zhongshan Cancer Institute, Zhongshan People's Hospital Affiliated to Sun Yat‑sen University, Zhongshan, Guangdong 528403, P.R. China
Published online on: September 19, 2014 https://doi.org/10.3892/etm.2014.1980
Pages: 1655-1659

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Abstract

The aim of this study was to investigate the association between the mutation of multidrug resistance 3 (MDR3) exon 6 and parenteral nutrition‑associated cholestasis (PNAC) in preterm infants. A total of 41 preterm infants with PNAC formed the experimental group, and 56 preterm infants receiving total parenteral nutrition (TPN) for >14 days but without cholestasis formed the control group. Genomic DNA was extracted from peripheral venous blood leukocytes. Polymerase chain reaction was used to amplify exon 6 of the MDR3 gene. The target band of MDR3 gene exon 6 was identified in all blood samples from all cases. We identified five cases with C. 504 C>T heterozygous mutations of exon 6 of the MDR3 gene and 14 cases with C. 504 C>T homozygous mutations in the experimental group. In the control group, we identified seven cases with the C. 504 C>T homozygous mutation and six cases with the C. 504 C>T heterozygous mutation. The distribution of the T/C allele frequency of C. 504 in exon 6 of the MDR3 gene between the experimental group and control group was statistically significant (P<0.05). Further analysis revealed the odds ratio of the T/C allele frequency of the C. 504 mutation in exon 6 of the MDR3 gene between the experimental group and control group to be 0.316. Point mutation C. 485 T>A was detected in one case in the experimental group. The C. 504 C>T and C. 485 T>A MDR3 mutations in exon 6 are possibly responsible for the development of PNAC in infants. C. 504 C>T may not be the only risk factor of neonatal PNAC. In order to further confirm the association between exon 6 of the MDR3 gene and PNAC, a large‑sample multicenter study should be carried out.

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