[A pedigree analysis of a rare RhD 336-1G>A intron variant].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(8): 803-806, 2021 Aug 10.
Article
em Zh
| MEDLINE
| ID: mdl-34365630
ABSTRACT
OBJECTIVE:
To explore the molecular mechanism of a case where RhD genotyping did not match serological results.METHODS:
The serological results of 8 members from two generations of this family were analyzed. And according to Mendelian law of inheritance, RhD genotyping, zygotic type determination and gene sequencing were performed for the family members.RESULTS:
The proband and one of her cousins have the same RhD alleles, both of them have a 336-1G>A intron variant RhD allele and a complete RhD deletion allele. The variant alleles are inherited from two of their parents with blood relationship, while the complete-deleted alleles come from the other. 336-1G>A means that the last base G of the second intron of the RhD gene is mutated to A, which leads to a negative RhD serology and a positive genotype in the proband.CONCLUSION:
There was a rare 336-1G> A intron variant gene (RhD * 01N.25) in this family, which was a recessive gene relative to the RhD gene and resulted in RhD phenotype negative.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sistema do Grupo Sanguíneo Rh-Hr
Limite:
Female
/
Humans
Idioma:
Zh
Ano de publicação:
2021
Tipo de documento:
Article