Molecular screening for Vel- blood type and analysis of SMIM1 gene variants / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1349-1351, 2020.
Article
在 Zh
| WPRIM
| ID: wpr-879496
Responsible library:
WPRO
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.
全文:
1
索引:
WPRIM
主要主题:
Genetic Variation
/
Blood Group Antigens
/
China
/
Polymorphism, Single Nucleotide
/
Alleles
/
Gene Frequency
/
Genotype
/
Membrane Proteins
研究类型:
Diagnostic_studies
/
Screening_studies
限制:
Humans
国家/地区名称主题:
Asia
语言:
Zh
期刊:
Chinese Journal of Medical Genetics
年:
2020
类型:
Article