1.Molecular screening for Vel- blood type and analysis of SMIM1 gene variants.
Taixiang LIU ; Ting XU ; Yanchun LIU ; Ruoyang ZHANG ; Weina DOU ; Lili SHI ; Peng WANG ; Fang ZHAO
Chinese Journal of Medical Genetics 2020;37(12):1349-1351
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.
Alleles
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Blood Group Antigens/genetics*
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China
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Gene Frequency
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Genetic Variation/genetics*
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Genotype
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Humans
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Membrane Proteins/genetics*
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Polymorphism, Single Nucleotide/genetics*