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.
Artigo
em Chinês
| WPRIM
| ID: wpr-879496
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Variação Genética
/
Antígenos de Grupos Sanguíneos
/
China
/
Polimorfismo de Nucleotídeo Único
/
Alelos
/
Frequência do Gene
/
Genótipo
/
Proteínas de Membrana
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
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