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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(6): 750-755, 2023 Jun 10.
Artigo em Zh | MEDLINE | ID: mdl-37212015

RESUMO

OBJECTIVE: To explore the serological characteristics of ABO blood group and molecular genetic mechanism for a Chinese pedigree with cisAB09 subtype. METHODS: A pedigree undergoing ABO blood group examination at the Department of Transfusion, Zhongshan Hospital Affiliated to Xiamen University on February 2, 2022 was selected as the study subjects. Serological assay was carried out to determine the ABO blood group of the proband and his family members. Activities of A and B glycosyltransferases in the plasma of the proband and his mother were measured with an enzymatic assay. Expression of A and B antigens on the red blood cells of the proband was analyzed by flow cytometry. Peripheral blood samples of the proband and his family members were collected. Following extraction of genomic DNA, exons 1 to 7 of the ABO gene and their flanking introns were sequenced, and Sanger sequencing of exon 7 was carried out for the proband, his elder daughter and mother. RESULTS: The results of serological assay suggested that the proband and his elder daughter and mother had an A2B phenotype, whilst his wife and younger daughter had an O phenotype. Measurement of plasma A and B glycosyltransferase activity suggested that the titers of B-glycosyltransferase activity were 32 and 256 for the proband and his mother, which were respectively below and above that of A1B phenotype-positive controls (128). Flow cytometry analysis showed that the expression of A antigen on the red blood cell surface of the proband has decreased, whilst the expression of B antigen was normal. Genetic sequencing confirmed that, in addition to an ABO*B.01 allele, the proband, his elder daughter and mother have harbored a c.796A>G variant in exon 7, which has resulted in substitution of the methionine at 266th position of the B-glycosyltransferase by valine and conformed to the characteristics of ABO*cisAB.09 allele. The genotypes of the proband and his elder daughter were determined as ABO*cisAB.09/ABO*O.01.01, his mother was ABO*cisAB.09/ABO*B.01, and his wife and younger daughter were ABO*O.01.01/ABO*O.01.01. CONCLUSION: The c.796A>G variant of the ABO*B.01 allele has resulted in an amino acid substitution p.Met266Val, which probably underlay the cisAB09 subtype. The ABO*cisA B.09 allele encodes a special glycosyltransferase which can synthesize normal level of B antigen and low level of A antigen on the red blood cells.


Assuntos
Sistema ABO de Grupos Sanguíneos , População do Leste Asiático , Humanos , Sistema ABO de Grupos Sanguíneos/genética , Linhagem , Genótipo , Fenótipo , Alelos , Glicosiltransferases/genética , Biologia Molecular
2.
Medicine (Baltimore) ; 100(42): e27378, 2021 Oct 22.
Artigo em Inglês | MEDLINE | ID: mdl-34678864

RESUMO

ABSTRACT: This article was to investigate risk factors influencing liver cancer prognosis after hepatectomy.Patients undergoing hepatectomy after being diagnosed with liver cancer in Zhongshan Hospital Affiliated to Xiamen University were collected in the retrospective cohort study between January 2012 and December 2017, and divided into disease progression and non-progression groups based on their prognostic status. Univariate analysis was performed on the patients' baseline and laboratory test data, with multivariate logistic regression further conducted to investigate the independent risk factors for liver cancer progression after hepatectomy.Among the 288 subjects, 159 had adverse outcomes (death or cancer recurrence). Hepatitis B and high levels of aspartate aminotransferase, gamma-glutamyltransferase, alkaline phosphatase (ALP), direct bilirubin, and total bilirubin as well as low level of lymphocyte (LYM) were found to be associated with disease progression in the univariate analysis, and were introduced into the multivariate logistic regression. The results indicated that patients with high ALP level (odds ratio [OR] = 1.004, 95%CI: 1.002-1.007, P = .003) and with a history of hepatitis B (OR = 2.182, 95%CI: 1.165-4.086, P = .015) had a higher risk of liver cancer progression compared with those of lower ALP level and those without hepatitis B respectively, whereas the elevated level of LYM (OR = 0.710, 95%CI: 0.516-0.978, P = .034) had favorable progression.The elevated ALP level and a history of hepatitis B may increase the risk of death or cancer recurrence, whereas high LYM level may decrease poor progression among liver cancer patients after hepatectomy. More importance should be attached to the improvement of the liver function and treatment of hepatitis B to enable a better outcome for the patients.


Assuntos
Hepatectomia/estatística & dados numéricos , Neoplasias Hepáticas/mortalidade , Neoplasias Hepáticas/cirurgia , Adulto , Idoso , Biomarcadores Tumorais , Comorbidade , Feminino , Hepatite B/epidemiologia , Humanos , Testes de Função Hepática , Neoplasias Hepáticas/epidemiologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Prognóstico , Estudos Retrospectivos , Fatores de Risco
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