早产儿肠外营养相关性胆汁淤积症的Mdr3基因突变,Molecular Genetics & Genomic Medicine

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早产儿肠外营养相关性胆汁淤积症的Mdr3基因突变
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2022-02-12 , DOI: 10.1002/mgg3.1875
Xiufang Yang _{1,

2} , Guosheng Liu ₃ , Bing Yi ₄

Affiliation

探讨早产儿多药耐药3（Mdr3）基因突变与肠外营养相关性胆汁淤积（PNAC）的关系。纳入接受全肠外营养至少 14 天的早产儿：PNAC 组 76 名早产儿和非 PNAC 组 80 名早产儿。从白细胞中提取基因组 DNA。Mdr3基因的28个外显子通过聚合酶链式反应扩增。实验性肝活检组选择校正年龄1个月且具有Mdr3基因突变和肝脏生化异常的PNAC婴儿。五名正常成人活体肝移植供体被纳入正常供体组。Mdr3 _PNAC组发现错义突变c.1031G>A、c.3347G>A和c.485T>A，Mdr3移码突变c.2793_2794insA。PNAC组Mdr3基因中c.1031G>A、c.3347G>A、c.485T>A等位基因频率和基因型频率显着高于非PNAC组（p < 0.05）。PNAC组Mdr3基因突变c.1031G>A、c.485T>A、c.3347G>A、c.2793_2794insA的发生率高于非PNAC组（分别为21.05%和1.25%） , χ ² = 15.747, p < 0.05)。Mdr3基因突变c.2793_2794insA、c.1031G>A、c.3347G>A、c.485T>A可能是PNAC的遗传原因。

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Mdr3 gene mutation in preterm infants with parenteral nutrition-associated cholestasis

To investigate the relationship of multidrug resistance 3 (Mdr3) gene mutation and parenteral nutrition-associated cholestasis (PNAC) in preterm infants. Preterm infants who had received total parenteral nutrition for at least 14 days were enrolled: 76 preterm infants in the PNAC group and 80 preterm infants in the non-PNAC group. Genomic DNA was extracted from white blood cells. Twenty-eight exons of the Mdr3 gene were amplified by polymerase chain reaction. PNAC infants of 1 month corrected age with the Mdr3 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 missense mutations c.1031G>A, c.3347G>A, and c.485T>A, and the Mdr3 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 gene in the PNAC group were significantly higher than those in non-PNAC group (p < 0.05). The rate of Mdr3 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-PNAC group (21.05% vs. 1.25%, respectively, χ² = 15.747, p < 0.05). Mdr3 gene mutations c.2793_2794insA, c.1031G>A, c.3347G>A, and c.485T>A may be the genetic cause of PNAC.

更新日期：2022-02-12

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