Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel A and B subgroup alleles

Olsson, Martin L.; Irshaid, Nidal M.; Hosseini-Maaf, Bahram; Hellberg, Åsa; Moulds, Marilyn; Sareneva, Hannele; Chester, Michael

doi:10.1182/blood.v98.5.1585

Cited by 170 publications

(238 citation statements)

References 49 publications

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“…This gene contains 7 exons, of which the last 2 (6 and 7) comprise nearly 80% of the coding sequence of the gene and encode the catalytic domain [1,2]. The genetic underpinnings of several B subtype phenotypes have been reported [3][4][5][6][7][8][9][10][11][12]. Although it is considerably rarely observed in Korea and probably the entire Asia, the B3 phenotype is the most common B subtype phenotype [6,7].…”

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The M142T Mutation Causes B3 Phenotype: Three Cases and anin vitroExpression Study

et al. 2010

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The human ABO blood group is determined by the ABO gene located on chromosome 9. This gene contains 7 exons, of which the last 2 (6 and 7) comprise nearly 80% of the coding sequence of the gene and encode the catalytic domain [1,2]. The genetic underpinnings of several B subtype phenotypes have been reported [3][4][5][6][7][8][9][10][11][12]. Although it is considerably rarely observed in Korea and probably the entire Asia, the B3 phenotype is the most common B subtype phenotype [6,7]. B 3 alleles are heterogeneous and contain single nucleotide polymorphisms (SNPs) scattered throughout both the coding and intronic DNA sequences; however, some individuals with the B3 phenotype had no unexpected SNPs relative to the B101 allele [8].Recently, blood samples were referred to our laboratory because of an ABO typing discrepancy between a neonate and her parents; a routine pretransfusion testing revealed that the neonate and her father were group O, while her mother had the A1B3 phenotype. A genetic investigation revealed that both the neonate and her mother contained 65The B3 phenotype is the most common B subtype in Korea. The B305 allele (425 T>C, M142T) was first reported in 2 Chinese individuals; however, it has not yet been reported in the Koreans, and the impact of the M142T mutation on the expression of the B3 phenotype has also not been studied. To resolve an ABO discrepancy between a group O neonate and her group O father and A1B3 mother, blood samples from these individuals and other family members were referred to our laboratory for ABO gene analysis. The B305 allele was discovered in the neonate (B305/O01), her mother (A102/ B305), and her maternal aunt (B305/O02), while her father was typed as O01/O02. Transient transfection experiments were performed in HeLa cells using the B305 allele synthesized by site-directed mutagenesis; flow cytometric analysis revealed that this transfect expressed 35.5% of the total B antigen produced by the B101 allele transfect. For comparison, Bx01 allele transfects were also created, and they expressed 11.4% of the total B antigen expressed on the surface of B101 transfects. These experiments demonstrate that the M142T (425 T>C) mutation is responsible for the B subtype phenotype produced by the B305 allele. (Korean J Lab Med 2010;30:65-9)

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confidence: 99%

The M142T Mutation Causes B3 Phenotype: Three Cases and anin vitroExpression Study

et al. 2010

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“…Os polimorfismos também são responsáveis pela diversidade humana. Diferentes fenótipos são decorrentes de diferentes polimorfismos, como, por exemplo, o sistema ABO (15). De outro modo, os polimorfismos podem influenciar diretamente sobre fatores de risco associados a doenças comuns, como é descrito nos estudos envolvendo a estrutura genética das apolipoproteínas (16,17).…”

Section: O Que São Polimorfismos?unclassified

Polimorfismos genéticos: implicações na patogênese do carcinoma medular de tireóide

Rocha

Magalhães

Maia

et al. 2007

Arq Bras Endocrinol Metab

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RESUMOO carcinoma medular de tireóide (CMT) é uma neoplasia maligna rara, ocorrendo na forma esporádica ou hereditária. Mutações germinativas no proto-oncogene RET são responsáveis pelo CMT hereditário. No entanto, a maioria dos casos de CMT ocorre em indivíduos sem história familiar, na qual a patogênese da doença ainda é pouco compreendida. Os polimorfismos do gene RET são descritos na população geral assim como em pacientes com CMT. Embora estas variações alélicas aparentemente não confiram qualquer atividade transformadora no receptor RET, estudos sugerem que essas alterações genéticas podem modificar a suscetibilidade à doença e o fenótipo clínico em pacientes com CMT esporádico ou hereditário. Uma maior freqüência dos polimorfismos localizados nos exons 11 (G691S), 13 (L769L), 14 (S836S) e 15 (S904) é descrita em pacientes com CMT provenientes de países americanos e europeus. Na presente revisão, analisamos criticamente os resultados obtidos nos diferentes estudos e descrevemos a freqüência dos polimorfismos do RET em pacientes brasileiros com CMT esporádico. Medullary thyroid carcinoma (MTC) is a rare malignant neoplasia, which may occur on sporadic form or on a hereditary basis. Germ line mutations in the RET proto-oncogene is responsible for hereditary MTC. However, most MTC occur in individuals without family history where the pathogenesis is still unclear. Single nucleotide polymorphisms (SNPs) of the RET gene have been described in the general population as well as in patients with MTC. Even though these allelic variants do not seem to confer any transforming activity to the tyrosine kinase domain of the RET protein, cumulative studies suggest that they could modify disease susceptibility and clinical phenotype in patients with sporadic or hereditary MTC. Polymorphisms located in exons 11 (G691S), 13 (L769L), 14 (S836S), and 15 (S904S) seem to be over-represented in sporadic MTC patients from American and European countries. Here, we discuss the results obtained in different studies as well as describe the frequency of RET polymorphisms in Brazilian patients with sporadic MTC.

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“…La variación exhibida por el alelo ABO*O, no es exclusiva de éste. Se han descrito también variantes moleculares de los alelos ABO*A y ABO*B 24,25 , abriendo sin duda interesantes perspectivas futuras de investigaciones en los campos de la genética molecular y poblacional del sistema de grupo sanguíneo ABO. Figura 1.…”

Section: N V E S T I G a C I ó Nunclassified

Caracterización molecular de alelos ABO*O del locus de grupo sanguíneo ABO en tres poblaciones chilenas

Moraga

et al. 2006

Rev. méd. Chile

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Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel A and B subgroup alleles

Cited by 170 publications

References 49 publications

The M142T Mutation Causes B3 Phenotype: Three Cases and anin vitroExpression Study

The M142T Mutation Causes B3 Phenotype: Three Cases and anin vitroExpression Study

Polimorfismos genéticos: implicações na patogênese do carcinoma medular de tireóide

Caracterización molecular de alelos ABO*O del locus de grupo sanguíneo ABO en tres poblaciones chilenas

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