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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Variación Genética
/
Antígenos de Grupos Sanguíneos
/
China
/
Polimorfismo de Nucleótido Simple
/
Alelos
/
Frecuencia de los Genes
/
Genotipo
/
Proteínas de la Membrana
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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