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A pedigree analysis of a rare RhD 336-1G>A intron variant / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 803-806, 2021.
Article in Chinese | WPRIM | ID: wpr-888400
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.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Phenotype / Rh-Hr Blood-Group System / Introns / Alleles / Genotype Limits: Female / Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Phenotype / Rh-Hr Blood-Group System / Introns / Alleles / Genotype Limits: Female / Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article