Yu Ying, Wang Zhejiong, Zhu Linchao, Lin Yushiang, Chang Haochun, Xu Huaxi
1Institute of Laboratory Medicine, Jiangsu Key Laboratory of Medicine, Jiangsu University, Zhenjiang, China.
Department of Laboratory Medicine, Chinese Medicine Hospital of Zhejiang, Hangzhou, China.
Indian J Hematol Blood Transfus. 2019 Jan;35(1):137-143. doi: 10.1007/s12288-018-0963-8. Epub 2018 Jun 21.
The gene, which encodes the high-frequency blood group antigen Vel, has not been systematically analyzed at the molecular level in Chinese individuals. To better understand the SMIM1 genetic polymorphism, we assessed mutations among healthy Chinese individuals, patients with red blood cell autoantibodies and hematological disease. A total of 130 patients with hematological disease (case I group), 50 patients with red blood cell autoantibodies (case II group), and 500 healthy controls (control group) were enrolled. Exons 3 and 4 in the gene were sequenced to identify genetic variants or mutations. A polyclonal anti-Vel antibody was used to evaluate the expression of the Vel antigenon red blood cells in patients with novel alleles. The novel alleles of the SMIM1 gene were intron 3 position 193 (TT, CT, CC), 194 (GG, AG), 3' untranslated region positions 81 (CC, CA) and 87 (AA, CA). The single nucleotide polymorphism (SNP) frequencies of intron 3 position 193 TT, CT, CC were 13.1, 39.2, 47.7% in case group I, 6.7, 33.3, 60.0% in case group II and 8.5, 35.6, 56.2% in the control group, respectively. Other minor allele frequencies were all greater than 10% and all SNPs in Chinese showed Vel antigen expression on RBC membranes. The allele at intron 3 position 193 was the most frequent mutant allele found in the Chinese population and Vel antigen deficiency may not cause problems in Chinese patients with hematological diseases and RBC autoantibodies.
编码高频血型抗原Vel的基因，尚未在中国人群中进行系统的分子水平分析。为了更好地了解SMIM1基因多态性，我们评估了健康中国人群、红细胞自身抗体患者和血液系统疾病患者中的突变情况。共纳入130例血液系统疾病患者（病例I组）、50例红细胞自身抗体患者（病例II组）和500名健康对照者（对照组）。对该基因的外显子3和4进行测序以鉴定基因变异或突变。使用多克隆抗Vel抗体评估新等位基因患者红细胞上Vel抗原的表达。SMIM1基因的新等位基因有内含子3位置193（TT、CT、CC）、194（GG、AG）、3'非翻译区位置81（CC、CA）和87（AA、CA）。内含子3位置193的TT、CT、CC单核苷酸多态性（SNP）频率在病例I组中分别为13.1%、39.2%、47.7%，在病例II组中分别为6.7%、33.3%、60.0%，在对照组中分别为8.5%、35.6%、56.2%。其他次要等位基因频率均大于10%，且中国人群中的所有SNP均显示红细胞膜上有Vel抗原表达。内含子3位置193的等位基因是中国人群中最常见的突变等位基因，Vel抗原缺乏可能不会给中国血液系统疾病患者和红细胞自身抗体患者带来问题。
