[Vel血型的分子筛查及SMIM1基因变异分析]
[Molecular screening for Vel- blood type and analysis of SMIM1 gene variants].
作者信息
Liu Taixiang, Xu Ting, Liu Yanchun, Zhang Ruoyang, Dou Weina, Shi Lili, Wang Peng, Zhao Fang
机构信息
Research Laboratory for Transfusion, Jiangsu Provincial Blood Center, Nanjing, Jiangsu 210042, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Dec 10;37(12):1349-1351. doi: 10.3760/cma.j.cn511374-20191216-00640.
OBJECTIVE
To screen for Vel- rare blood type donors and determine the frequency of SMIM1 c.64_80del allele in Yili Prefecture of Xinjiang, China.
METHODS
DNA pooling and PCR-sequence-specific primers (PCR-SSP) was conducted to screen individuals carrying the SMIM1 c.64_80del variant, and Sanger sequencing of SMIM1 exon 3 was carried out to verify the genotype of those with the variation. SMIM1 intron 2 was also sequenced to identify single nucleotide polymorphisms (SNPs) that may affect the expression of Vel antigen.
RESULTS
Among 3328 blood donors, 14 were identified as heterozygotes for the SMIM1 c.64_80del allele, its allele frequency was 0.21%; no homozygous SMIM1 c.64_80 deletions was found. For SNP rs1175550, all of the 14 individuals had an AA genotype, among whom 5 carried heterozygous 7111ins GCA variant in intron 2.
CONCLUSION
The allelic frequency of SMIM1 c.64_80del in Yili area is approximately 0.21%, which is reported for the first time.
目的
筛选Vel稀有血型献血者，并确定中国新疆伊犁地区SMIM1基因c.64_80del等位基因的频率。
方法
采用DNA池化和聚合酶链反应-序列特异性引物（PCR-SSP）技术筛选携带SMIM1基因c.64_80del变异的个体，并对SMIM1基因第3外显子进行Sanger测序以验证变异个体的基因型。同时对SMIM1基因内含子2进行测序，以鉴定可能影响Vel抗原表达的单核苷酸多态性（SNP）。
结果
在3328名献血者中，有14人被鉴定为SMIM1基因c.64_80del等位基因的杂合子，其等位基因频率为0.21%；未发现SMIM1基因c.64_80纯合缺失。对于SNP rs1175550，14名个体均为AA基因型，其中5人在第2内含子中携带杂合的7111ins GCA变异。
结论
伊犁地区SMIM1基因c.64_80del等位基因频率约为0.21%，此为首次报道。
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