摘要
目的在新疆伊犁地区献血人群中筛查Vel-稀有血型,评估Vel血型SMIM1 c.64_80del等位基因的频率,了解新疆伊犁地区Vel-稀有血型的分布情况。方法采用DNA汇集法PCR-序列特异性引物(polymerase chain reaction-sequence specific primers,PCR-SSP)筛查新疆伊犁地区Vel血型基因SMIM1 c.64_80缺失变异个体;对筛查到含缺失变异个体的SMIM1基因第3外显子进行测序以验证PCR-SSP结果;对SMIM1基因第2内含子直接测序分析与Vel表达量相关的单核苷酸位点多态性。结果在新疆伊犁地区3328名献血者中,发现14人为SMIM1 c.64_80杂合缺失个体,SMIM1 c.64_80del等位基因频率为0.21%,未见纯合缺失个体。14名SMIM1 c.64_80杂合缺失个体rs1175550位点的基因型均为AA,其中5人SMIM1第2内含子存在7111 ins GCA(rs143702418)杂合变异。结论新疆伊犁地区SMIM1 c.64_80del等位基因的频率尚未见报道,本文研究结果丰富了中国不同地区人群Vel血型等位基因数据。
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 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.
作者
刘太香
许婷
刘衍春
张若洋
窦维娜
史丽莉
王鹏
赵芳
Liu Taixiang;Xu Ting;Liu Yanchun;Zhang Ruoyang;Dou Weina;Shi Lili;Wang Peng;Zhao Fang(Research Laboratory for Transfusion,Jiangsu Provincial Blood Center,Nanjing,Jiangsu 210042,China;Clinical Laboratory,Yili Prefecture Blood Center,Yining,Xinjiang 835000,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第12期1349-1351,共3页
Chinese Journal of Medical Genetics
