Molecular screening for Vel- blood type and analysis of SMIM1 gene variants.
10.3760/cma.j.cn511374-20191216-00640
- VernacularTitle:新疆伊犁地区Vel-稀有血型的基因筛查及
SMIM1基因分析
- Author:
Taixiang LIU
1
;
Ting XU
;
Yanchun LIU
;
Ruoyang ZHANG
;
Weina DOU
;
Lili SHI
;
Peng WANG
;
Fang ZHAO
Author Information
1. Research Laboratory for Transfusion, Jiangsu Provincial Blood Center, Nanjing, Jiangsu 210042, China. lyc60@126.com.
- Publication Type:Journal Article
- MeSH:
Alleles;
Blood Group Antigens/genetics*;
China;
Gene Frequency;
Genetic Variation/genetics*;
Genotype;
Humans;
Membrane Proteins/genetics*;
Polymorphism, Single Nucleotide/genetics*
- From:
Chinese Journal of Medical Genetics
2020;37(12):1349-1351
- CountryChina
- Language:Chinese
-
Abstract:
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.
