Molecular genetic analysis for a novel Ael allele of the ABO blood group system

Abstract

The ABO blood group is the most important system in clinical transfusion medicine. Previous studies on the genetic base of the common ABO group and some rare ABO subgroups have suggested that the molecular genetic background of the ABO gene in the Chinese population has specific character. In this study, we carried out a molecular genetic analysis of a family with an individual diagnosed as Ael subgroup by serological tests. A novel allele was identified in our A subgroup cases.

A 425T>C mutation in the B allele for the ABO transferase is associated with the B3 phenotype in Han Chinese persons

“…The same mutation at the 425T of the ABO gene has also been identified in another subgroup allele. One individual with A el phenotype was found to heterozygote with a common O01 allele and an A allele with a mutation of 425T>C 6 . There may be different reasons to explain why the 425T>C mutation on the A allele causes the A el phenotype but causes B 3 phenotype on B allele.…”

“…The same mutation at the 425T of the ABO gene has also been identified in another subgroup allele. One individual with A el phenotype was found to heterozygote with a common O01 allele and an A allele with a mutation of 425T>C. 6 There may be different reasons to explain why the 425T>C mutation on the A allele causes the Ael phenotype but causes B3 phenotype on B allele. The first possible reason is that attempts to classify or distinguish phenotypes based on agglutination characteristics are subjective and often depend on the characteristics of the antibody used for testing.…”

“…5 Evidence is accumulating to indicate that when secreted NE exceeds the inhibitory capacity of AAT, acute respiratory distress syndrome can develop. 6 Excess NE, when present on a chronic basis, is implicated in the development of emphysema and chronic obstructive pulmonary disease (COPD). 5,7 We propose that TRALI could also be an acute manifestation of AAD.…”

Genetic and mechanistic evaluation for the weak A phenotype in Ael blood type with IVS6 + 5G>A ABO gene mutation

“…These subtypes are derived from point mutation or splicing variants of the ABO genes. Up to now, nine A el alleles have been identified and characterized (Table 2) [10,13,[15][16][17][18][19][20][21][22][23][24]. Most A el alleles are resulted from point mutations.…”

ABO, H, and Lewis Systems

“…The frameshift caused by a G insert at G798 -804 in an otherwise normal A 2 allele was corrected by the 1059delC characteristic of A 2 , but despite encoding a product of normal length this allele, O 3 or O08 , was associated with no expression of A [145] . Some other mutations associated with an A el phenotype include other missense mutations in exon 7 [271,272] , an intron 6 splice site mutation [270] , and an A 1 -O 1v hybrid with a recombination site within exon 7 in a blood group chimera with A el B el phenotype [273] (Table 2.14 ). Some other mutations associated with an A el phenotype include other missense mutations in exon 7 [271,272] , an intron 6 splice site mutation [270] , and an A 1 -O 1v hybrid with a recombination site within exon 7 in a blood group chimera with A el B el phenotype [273] (Table 2.14 ).…”