{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:09Z","timestamp":1753869729096,"version":"3.41.2"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,2,12]],"date-time":"2022-02-12T00:00:00Z","timestamp":1644624000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2022,3]]},"abstract":"Abstract<\/jats:title>To investigate the relationship of multidrug resistance 3 (Mdr3<\/jats:italic>) gene mutation and parenteral nutrition\u2010associated cholestasis (PNAC) in preterm infants. Preterm infants who had received total parenteral nutrition for at least 14\u00a0days were enrolled: 76 preterm infants in the PNAC group and 80 preterm infants in the non\u2010PNAC group. Genomic DNA was extracted from white blood cells. Twenty\u2010eight exons of the Mdr3<\/jats:italic> gene were amplified by polymerase chain reaction. PNAC infants of 1\u00a0month corrected age with the Mdr3<\/jats:italic> gene mutation and abnormal liver biochemistry were selected for the experimental liver biopsy group. Five normal adult living liver transplantation donors were enrolled in a normal donor group. The Mdr3<\/jats:italic> missense mutations c.1031G>A, c.3347G>A, and c.485T>A, and the Mdr3<\/jats:italic> frameshift mutation c.2793_2794insA were found in the PNAC group. The allele frequency and genotype frequency of c.1031G>A, c.3347G>A, and c.485T>A in the Mdr3<\/jats:italic> gene in the PNAC group were significantly higher than those in non\u2010PNAC group (p<\/jats:italic>\u00a0<\u00a00.05). The rate of Mdr3<\/jats:italic> gene mutations c.1031G>A, c.485T>A, c.3347G>A, and c.2793_2794insA in the PNAC group was higher than in the non\u2010PNAC group (21.05% vs. 1.25%, respectively, \u03c7<\/jats:italic>2<\/jats:sup>\u00a0=\u00a015.747, p<\/jats:italic>\u00a0<\u00a00.05). Mdr3<\/jats:italic> gene mutations c.2793_2794insA, c.1031G>A, c.3347G>A, and c.485T>A may be the genetic cause of PNAC.<\/jats:p>","DOI":"10.1002\/mgg3.1875","type":"journal-article","created":{"date-parts":[[2022,2,12]],"date-time":"2022-02-12T14:39:04Z","timestamp":1644676744000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Mdr3<\/i> gene mutation in preterm infants with parenteral nutrition\u2010associated cholestasis"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6721-9811","authenticated-orcid":false,"given":"Xiufang","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Neonatology Zhongshan Hospital Affiliated to Sun Yat\u2010Sen University Zhongshan P.R. China"},{"name":"Department of Neonatology Guangdong Medical College Zhanjiang P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guosheng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neonatology The First Affiliated Hospital of Jinan University Guangzhou P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bing","family":"Yi","sequence":"additional","affiliation":[{"name":"Molecular Inspection Center Zhongshan Hospital Affiliated to Sun Yat\u2010Sen University Zhongshan P.R. 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