Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis
Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis
复制标题
中国新生儿肝内胆汁淤积症患者SLC25A13突变的不同区域分布
DOI：
10.3748/wjg.v19.i28.4545
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发表时间：
2013-07-28
影响因子：
4.3
通讯作者：
Wang, Jian-She
中科院分区：
文献类型：
--
作者：
Chen, Rui;Wang, Xiao-Hong;Wang, Jian-She
目的：研究中国不同地区SLC25A13基因突变谱的差异。方法：对本中心8年来535例新生儿肝内胆汁淤积症患者进行SLC25A13突变的遗传分析。研究人员招募了至少有一个突变等位基因的非亲属婴儿，以计算中国不同地区SLC25A13突变的比例。中国的南北边界是以长江的历史边界划定的。结果：中国16个省市共63例SLC25A13基因突变患者（约占肝内胆汁淤淤症患者的11%），其中纯合子16例（25%），复合杂合子28例（44%），杂合子19例（30%）。除了四种常见突变（C .851_854del, C .1638_1660dup23, C .615+5G>A和C .1750+72_1751-4dup17insNM_138459.3: 2667，也称为IVS16ins3kb）外，还鉴定了13种其他突变类型，包括三种新突变：C . 985_986inst, C . 287t >C和C . 1349a >G。根据地域划分标准，南方地区患者共鉴定出60个突变等位基因，边境地区患者共鉴定出43个突变等位基因，北方地区患者共鉴定出4个突变等位基因。南方地区4种常见突变的比例（56/ 60,93%）高于边疆地区（34/ 43,79%,chi(2) = 4.621, P = 0.032）和北方地区（2/ 4,50%,chi(2) = 8.288, P = 0.041）。结论：中国3个地区SLC25A13突变谱存在差异，可为改进诊断策略和基因诊断解释提供依据。(三)2013年白石登。版权所有。
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 (30%) were heterozygotes. In addition to four well described common mutations (c.851_854del, c.1638_1660dup23, c.615+5G>A and c.1750+72_1751-4dup17insNM_138459.3: 2667 also known as IVS16ins3kb), 13 other mutation types were identified, including three novel mutations: c.985_986insT, c.287T>C and c.1349A>G. According to the geographical division criteria, 60 mutant alleles were identified in patients from the southern areas of China, 43 alleles were identified in patients from the border, and 4 alleles were identified in patients from the northern areas of China. The proportion of four common mutations was higher in south region (56/60, 93%) than that in the border region (34/43, 79%, chi(2) = 4.621, P = 0.032) and the northern region (2/4, 50%, chi(2) = 8.288, P = 0.041).CONCLUSION: The SLC25A13 mutation spectra among the three regions of China were different, providing a basis for the improvement of diagnostic strategies and interpretation of genetic diagnosis. (C) 2013 Baishideng. All rights reserved.