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1.
Article in Chinese | WPRIM | ID: wpr-879612

ABSTRACT

OBJECTIVE@#To delineate the serological and molecular profiles of a patient with A(w)37B subtype.@*METHODS@#The ABO bloodtypes of the proband, his wife and daughter were determined with a standard serological method. Their ABO genotypes were determined by sequence-specific primer polymerase chain reaction (PCR-SSP). All exons of the ABO gene were directly sequenced. Exons 6 and 7 of the ABO gene were further analyzed by cloning and sequencing.@*RESULTS@#The red blood cells of the proband showed a weak B phenotype. His serum sample contained weak reactive anti-A antibody, which was defined as A(w)B blood group based on the serological characteristics. The A and B alleles were detected by blood group genotyping. Gene cloning and sequencing have identified a characteristic c.940A>G variant (ABO*AW.37) in exon 7 of the ABO gene, which resulted in substitution of Lysine by Glutamate at position 314. The proband's daughter has inherited the ABO*AW.37 allele.@*CONCLUSION@#The c.940A>G variant in exon 7 of the ABO gene probably underlay the decreased activity of GTA transferase and resulted in the Aw37 phenotype.


Subject(s)
ABO Blood-Group System/genetics , Alleles , Genotype , Humans , Pedigree , Phenotype
2.
Article in Chinese | WPRIM | ID: wpr-879550

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree with a novel ABO subtype.@*METHODS@#The proband and his family members were subjected to serological analysis, and their genotypes were determined by fluorescence PCR and direct sequencing of the coding regions of the ABO gene. Exons 6 to 7 of the ABO gene were also subjected to clone sequencing for haplotype analysis.@*RESULTS@#The proband was determined as an AxB subtype. By fluorescence PCR, he was typed as A/B. Clone sequencing has revealed a insertional mutation c.797_798 insT in exon 7 of the ABO gene, which yielded a novel allele. Pedigree analysis confirmed that the novel ABO*A1.02 allele carried by the proband and his sister was inherited from their father. The c.797_798insT mutation has been submitted to GenBank with an accession number of MK125137.@*CONCLUSION@#The c.797_798insT mutation of exon 7 of the ABO gene probably has led to weakened expression of A antigen.


Subject(s)
ABO Blood-Group System/genetics , Alleles , China , Genotype , Humans , Male , Mutation , N-Acetylgalactosaminyltransferases/genetics , Pedigree
3.
Article in Chinese | WPRIM | ID: wpr-776817

ABSTRACT

OBJECTIVE@#To explore the molecular basis for a blood donor with an ABO subtype.@*METHODS@#The proband and his family members were subjected to serological analysis. Their genotypes were determined by real-time PCR and sequencing of the coding regions of ABO gene.@*RESULTS@#The proband was determined as an ABw subtype. By sequencing analysis, the proband was typed as A102/BW03. Compared with ABO*B.01, the proband was found to harbor a 721C>T variant (ABO*BW.03 allele) in exon 7 of the ABO gene, which caused substitution of Arginine at position 241 by Tryptophan resulting in a ABW phenotype. The blood type of the proband's sister was similar to that of the proband. The maternal serological pattern was B type, and the result of sequencing suggested that the genotype fit with B101/Bw03.@*CONCLUSION@#The 721C>T in the exon 7 of the ABO glycosyltransferase gene probably underlies the Bw03 phenotype. The ABO*Bw.03 variant of the proband and his sister were inherited from their mother.


Subject(s)
ABO Blood-Group System , Genetics , Amino Acid Substitution , Female , Genotype , Humans , Male , Pedigree , Whole Exome Sequencing
4.
Article in Chinese | WPRIM | ID: wpr-806055

ABSTRACT

The level of viral DNA in patients with occult hepatitis B virus infection (OBI) is very low, and it is difficult to detect the conventional serum marker-HBsAg. OBI brought challenges to the clinical diagnosis and treatment and blood transfusion safety. The mechanism involved in OBI and the clinical implication are getting more and more attention. OBI has a complex mechanism that may involve host factors, the virus itself, and other viral or nonviral factors. OBI has the risk of HBV transmission. HBV can be reactivated and the liver disease can be aggravated in patients with OBI.

5.
Chinese Journal of Epidemiology ; (12): 688-692, 2017.
Article in Chinese | WPRIM | ID: wpr-737708

ABSTRACT

Occult hepatitis B virus infection is a worldwide public health problem,which seriously affects the clinical diagnosis of hepatitis B and threatens the safety of blood transfusion.The concept of occult hepatitis B virus infection,the pathogenesis of occult hepatitis B virus infection,the prevalence of occult hepatitis B virus infection in different groups,including healthy population and different patients,and the possibility of transmission were summarized.The prevalence of occult hepatitis B virus infection was found in healthy population and different patients,and there is possibility of occult hepatitis B virus infection to be transmitted through blood transfusion.The paper provides a comprehensive introduction of the pathogenesis and prevalence of occult hepatitis B virus infection.More attention should be paid to occult hepatitis B virus infection.

6.
Chinese Journal of Epidemiology ; (12): 688-692, 2017.
Article in Chinese | WPRIM | ID: wpr-736240

ABSTRACT

Occult hepatitis B virus infection is a worldwide public health problem,which seriously affects the clinical diagnosis of hepatitis B and threatens the safety of blood transfusion.The concept of occult hepatitis B virus infection,the pathogenesis of occult hepatitis B virus infection,the prevalence of occult hepatitis B virus infection in different groups,including healthy population and different patients,and the possibility of transmission were summarized.The prevalence of occult hepatitis B virus infection was found in healthy population and different patients,and there is possibility of occult hepatitis B virus infection to be transmitted through blood transfusion.The paper provides a comprehensive introduction of the pathogenesis and prevalence of occult hepatitis B virus infection.More attention should be paid to occult hepatitis B virus infection.

7.
Article in Chinese | WPRIM | ID: wpr-418375

ABSTRACT

ObjectiveTo further explore the occurrence of occult hepatitis B virus (HBV)infection m patients with hepatitis B e antibody (anti-Hbe) positive alone and analyze the possible reasons of occult infection.MethodsSera of 61 patients carrying anti Hbe alone (absorbance≤0.1) were collected and real time polymerase chain reaction (PCR) was used to detect HBV DNA level.HBV markers were detected again by Abbott reagent,preS/S amplification products were obtained by PCR,and clonal sequencings were done in HBV DNA positive samples.ResultsTwo samples were HBV DNA positive in 61 samples with anti-Hbe positive alone,with the hepatitis B surface antigen (HBsAg) miss rate of 3.3%.Sequencing disclosed preS deletion mutations,preS2 initiatior codon mutations and co-existence of the different mutant types in one sample with anti-Hbe positive alone by repeated Abbott detection.No preS/S mutations were found in the other sample with HBsAg and hepatitis B core antibody (anti-HBc) weakly positive by repeated Abbott detection except for anti Hbe strongly positive. Conclusions Occult HBV infection and HBsAg serological test failure exist in patients with anti-Hbe positive alone.The failure of HBsAg detection may be due to preS/S gene mutations as well as low level of circulating HBsAg.

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