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1.
Journal of Experimental Hematology ; (6): 1929-1934, 2021.
Article in Chinese | WPRIM | ID: wpr-922226

ABSTRACT

OBJECTIVE@#To explore the role and significance of blood group genotyping and gene sequencing technology in the identification of blood group subtypes.@*METHODS@#Blood type of the proband and his son were identified by blood type serology, and ABO genotyping and DNA sequencing were performed according to the results of serological expression pattern.@*RESULTS@#The weak B antigen expression was found in the proband and his son by serological test, and was preliminarily identified as B3 subtype. The ABO blood group genotyping confirmed that the genotype of the proband and his son was B/O1 and B/O2, respectively. Finally, through gene sequencing, it was confirmed that the B101 allele of the proband and his son showed a heterozygous mutation of 5873CT.@*CONCLUSION@#The combination of serology, genotyping and sequencing showed find new blood group gene mutation sites, which is important strategic significance for accurate blood group identification, personalized blood use and trasfusion safety, which is beneficial to clarify the molecular biological basis of ABO blood group subtypes.


Subject(s)
ABO Blood-Group System/genetics , Alleles , Genotype , Humans , Mutation , Sequence Analysis, DNA
2.
Journal of Experimental Hematology ; (6): 1917-1922, 2021.
Article in Chinese | WPRIM | ID: wpr-922224

ABSTRACT

OBJECTIVE@#To analyze the different subtypes caused by c.721C>T substitution in the exon 7 of the ABO gene, and to investigate the related molecular mechanism of different antigens expression.@*METHODS@#ABO subtypes in 7 samples were identified by standard serological methods. The exons 6, 7, and adjacent intron of ABO gene were amplified by Polymerase Chain Reaction (PCR), and the PCR products were analyzed by direct DNA sequencing and cloning sequencing.@*RESULTS@#ABO subtypes phenotypes were A@*CONCLUSION@#c.721C>T substitution in the ABO gene causes p.Arg241Trp exchange resulting in the decreasing of GTA or GTB activities and weaker antigen expression. O.01.07 is a null allele which cannot form a functional catalytic enzyme has no effect on A


Subject(s)
ABO Blood-Group System/genetics , Alleles , Exons , Genotype , Mutation, Missense
3.
Article in Chinese | WPRIM | ID: wpr-921987

ABSTRACT

OBJECTIVE@#To study rare para-Bombay blood type Bm@*METHODS@#ABO and H phenotype of the proband and her pedigree were determined with serological methods. The ABO genotype was analyzed by polymerase chain reaction-sequence specific primer(PCR-SSP). The full coding region of alpha-l,2 fucosyltransferase (FUT1) gene of the pedigree was analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotype of the FUT1 gene were analyzed by cloning sequencing.@*RESULTS@#The rare para-Bombay blood type Bm@*CONCLUSION@#Two new alleles of FUT1 gene (h


Subject(s)
ABO Blood-Group System/genetics , China , Female , Fucosyltransferases/genetics , Genotype , Humans , Phenotype
4.
Journal of Experimental Hematology ; (6): 1318-1324, 2021.
Article in Chinese | WPRIM | ID: wpr-888559

ABSTRACT

OBJECTIVE@#To study the serological characteristics and molecular biological basis of 8 individuals with Para-Bombay phenotypes in Guangxi area.@*METHODS@#Serological tests were used to identify the blood groups of red cells. Molecular biological methods, including PCR-SSP for ABO genotyping and DNA sequencing for FUT1, were used to detect the genotypes of ABO and FUT1 which determined the expression of H antigen.@*RESULTS@#Eight individuals in the study were all the Para-Bombay phenotypes, including 4 cases of B@*CONCLUSION@#There are varieties of molecular genetic mechanisms for Para-Bombay phenotypes. In this study, the FUT1 mutations that cause Para-Bombay phenotypes in Guangxi area are mainly h3, h


Subject(s)
ABO Blood-Group System/genetics , Alleles , China , Fucosyltransferases/genetics , Genotype , Humans , Mutation , Phenotype
5.
Article in Chinese | WPRIM | ID: wpr-888402

ABSTRACT

OBJECTIVE@#To explore the molecular basis for a rare case with Para-Bombay AB blood type.@*METHODS@#Serological method was used to determine the blood type of the proband. Exons 6 and 7 of the ABO gene and the coding regions of FUT1 and FUT2 genes were analyzed by direct sequencing.@*RESULTS@#Serological results showed that the proband was a Para-Bombay AB subtype. His genotype was determined as ABO*A1.02/B.01. The proband was also found to harbor c.551-552delAG and c.881-882delTT of the FUT1 gene. For his four children, there were three type B and one type A, though the expression of the H type was normal.@*CONCLUSION@#The double deletions in the coding region of the FUT1 gene probably underlay the Para-Bombay blood type in the proband. Carrier of single-strand deletions may have a normal ABO phenotype.


Subject(s)
ABO Blood-Group System/genetics , Alleles , Fucosyltransferases/genetics , Genotype , Humans , Male , Phenotype , Sequence Analysis
6.
Article in Chinese | WPRIM | ID: wpr-888401

ABSTRACT

OBJECTIVE@#To determine the genotype of an individual suspected for Aw through DNA sequencing.@*METHODS@#Serologic testing was carried out with standard methods. Exons 6 and 7 of the ABO genes were amplified by PCR and subjected to direct sequencing or sequenced after gene cloning.@*RESULTS@#Serological testing showed that the forward typing and reverse typing were Aw and A, respectively. DNA sequencing revealed that the individual has carried an Aw allele and an O allele. Haplotype sequencing of each allele has revealed a nt543 variant (543G>C) in the Aw allele.@*CONCLUSION@#The individual was verified as a rare A subtype, which was previously unreported in mainland China.


Subject(s)
ABO Blood-Group System/genetics , Alleles , Exons , Genotype , Humans , Phenotype
7.
Article in Chinese | WPRIM | ID: wpr-879613

ABSTRACT

OBJECTIVE@#To study the serological, molecular and genetic characteristics of an individual with para-Bombay blood group.@*METHODS@#Serological method was used to detect the presence of A, B, H antigens in red blood cells and saliva, and Sanger sequencing was used to analyze the FUT1 gene of the proband and her family members. Genetic mechanism of the blood group was analyzed by pedigree analysis.@*RESULTS@#Forward and reverse typing of the ABO blood group were inconsistent for the proband. A, B and H antigens were not found on erythrocytes, while B and H antigens were found in saliva, in addition with unexpected antibodies. The proband was found to have a genotype of ABO*B.01/ABO*O.01.04 caused by homozygous variant of c.948C>A (p.Tyr316Ter) of the FUT1 gene.@*CONCLUSION@#A novel para-Bombay blood group was identified, which was due to the missense variant of c.948C>A in the coding region of the FUT1 gene, which has probably resulted in inability to synthesis active H antigen transferase.


Subject(s)
ABO Blood-Group System/genetics , Alleles , Female , Fucosyltransferases/genetics , Genotype , Homozygote , Humans , Phenotype
8.
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
9.
Article in Chinese | WPRIM | ID: wpr-879571

ABSTRACT

OBJECTIVE@#To explore the molecular basis for an individual with Bw subtype.@*METHODS@#Routine serological reactions were used to determine the surface antigens of erythrocytes and antibodies in serum. PCR-sequence-based typing (PCR-SBT) was used to analyze the coding regions of the ABO gene and erythroid-specific regulatory element in its intron 1. Amplicons for exons 5 to 7 containing the variant site were subjected to TA cloning for the isolation of the haploid and verification of the sequence. The 3D structure of mutant protein was predicted with Pymol software. Changes of amino acid residues and structural stability were also analyzed.@*RESULTS@#Serological assay showed that the individual had weakened B antigen and anti-B antibody in his serum. His genotype was determined as ABO*B.01/ABO*O.01.01. Sequencing of the entire coding region of the ABO gene identified an additional heterozygous c.734C/T variant. No variant was found in the erythroid-specific regulatory element of intron 1. Haploid cloning and isolation has obtained an ABO*O.01.01 allele and a ABO*B.01 allele containing a c.734T variant, which has led to substitution of Thr by Ile at position 245 in the functional center of glycosyltransferase. Based on the 3D structure of the protein, the residues binding with the mutation were unchanged, but the bonding distance between the hydrogens was changed with the amino acid substitution. Meanwhile, the connections with water molecules were increased.@*CONCLUSION@#The c.734C>T variant of the GTB gene can lead to an amino acid substitution in the functional center of the enzyme, which in turn may affect the stability of glycosyltransferase B protein and reduceits enzymatic activity.


Subject(s)
ABO Blood-Group System/genetics , Alleles , Exons/genetics , Genotype , Glycosyltransferases/genetics , Humans , Male , Phenotype
10.
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
11.
Article in Chinese | WPRIM | ID: wpr-879515

ABSTRACT

OBJECTIVE@#To investigate the serological and molecular characteristics of a pedigree carrying an allele for ABO*BW.11 blood subgroup.@*METHODS@#The ABO blood type of 9 pedigree members were determined by serological methods. Exons 6 and 7 of the ABO gene were amplified by PCR and directly sequenced. The patient and her father were also subjected to clone sequencing analysis.@*RESULTS@#Serological tests demonstrated that the proband and her younger brother had an ABw subtype, whilst her father and two daughters had Bw subtype. Clone sequencing found that the exon 7 of the ABO gene of the proband had a T>C substitution at position 695, which was identified as a BW.11 allele compared with the reference sequence B.01. This BW.11 allele was also identified in the proband's father, brother and two daughters. Due to allelic competition, the A/BW.11 and BW.11/O alleles demonstrated significantly different phenotypes.@*CONCLUSION@#The c.695T>C substitution of the ABO gene may lead to allelic competition in the Bw11 subtype. Combined molecular and serological methods is helpful for precise blood grouping.


Subject(s)
ABO Blood-Group System/genetics , Alleles , Female , Genotype , Humans , Male , Pedigree , Phenotype
12.
Article in Chinese | WPRIM | ID: wpr-879514

ABSTRACT

OBJECTIVE@#To explore the molecular basis for an individual suspected as AwB subtype through DNA sequencing.@*METHODS@#ABO serology was carried out with the standard tube method. To identify the ABO gene haplotype, the amplicons of exon 7 were cloned and sequenced.@*RESULTS@#Serological results showed that the forward typing was AwB and the reverse typing was B. Sequencing analysis revealed that the sample has contained an O01 allele in addition with c.297A>G, c.657C>T, c.796C>A, c.803G>C, c.930G>A variants as compared with the A101 allele.@*CONCLUSION@#Through sequencing analysis, the sample with an AwB subtype by serological testing was identified as a novel B(A) phenotype, which was unreported previously.


Subject(s)
ABO Blood-Group System/genetics , Alleles , Base Sequence , Exons/genetics , Humans , Mutation, Missense , Phenotype
13.
Article in Chinese | WPRIM | ID: wpr-879513

ABSTRACT

OBJECTIVE@#To analyze the molecular characteristics of a recombinant allele of the ABO blood group.@*METHODS@#The ABO phenotype was determined with the tube method. The coding regions of the ABO and FUT1 genes were analyzed by PCR-sequence based typing. The ABO alleles of the proband were determined by allele-specific primer sequencing. The full sequences of the ABO gene of the proband and her mother were determined through next generation sequencing.@*RESULTS@#The red blood cells of the proband did not agglutinate with anti-H, and the sequence of the FUT1 gene was homozygous for c.551_552delAG.The proband was thereby assigned as para-Bombay. Bi-directional sequencing also found that she was heterozygous for c.261G/del,467C>T,c.526C>G,c.657C>T,c.703G>A,c.796C>A,c.803G>C and c.930G>A of the coding regions of the ABO gene. Allele-specific primer sequencing also found her to carry a ABO*A1.02 allele and a recombinant allele from ABO*O.01.01 and ABO*B.01. The recombination site was located between nucleotide c.375-269 and c.526, and the allele was maternally derived.@*CONCLUSION@#An recombinant allele of the ABO gene has been identified, which has originated from recombination of ABO*O.01.01 with the ABO*B.01 allele.


Subject(s)
ABO Blood-Group System/genetics , Alleles , Blood Grouping and Crossmatching , Female , Fucosyltransferases/genetics , Genotype , Humans , Phenotype , Recombination, Genetic
14.
Cienc. tecnol. salud ; 7(3): 325-332, 26 de noviembre 2020. ^c27 cmilus
Article in Spanish | LILACS, LIGCSA, DIGIUSAC | ID: biblio-1130006

ABSTRACT

La pandemia de COVID-19, causada por el virus SARS-CoV-2, ha infectado ya a más de 25 millones de personas, ocasionando más de 850,000 muertos y causando serios problemas en hospitales y sistemas de salud en todo el mundo. Una de las mayores dificultades que presenta la infección por SARS-CoV-2 es su gran variación en presentación clínica, que puede ir desde casos asintomáticos hasta síndromes de distrés respiratorio agudo, fallo múltiple de órganos y muerte. De aquí la importancia del estudio de factores demográficos, clínicos y genéticos que permitan la identificación de personas con mayor riesgo de adquirir la infección y sufrir manifestaciones graves de la enfermedad. Un número creciente de reportes en la literatura han sugerido que el grupo sanguíneo ABO está relacionado con el riesgo a COVID-19, coincidiendo en que personas con sangre del grupo A muestran el mayor riesgo, mientras que personas con sangre del grupo O el menor. Los objetivos de esta revisión son presentar un resumen de la evidencia existente en la literatura científica reciente y discutir estas observaciones en el contexto del conocimiento sobre la asociación de los grupos sanguíneos a varias infecciones y otras enfermedades, así como de los mecanismos potenciales involucrados. Finalmente, las implicaciones de la relación entre el grupo sanguíneo y susceptibilidad a COVID-19 son también discutidas con relación a la población guatemalteca.


The COVID-19 pandemic, caused by the SARS-CoV-2 virus, has already infected more than 25 million people, resulting in more than 850,000 deaths and causing serious problems in hospitals and health systems worldwide. One of the biggest problems posed by the SARS-CoV-2 infection is its great variation in clinical presentation, which can range from asymptomatic cases to syndromes of acute respiratory distress, multiple organ failure, and death. Hence the importance of studying demographic, clinical and genetic factors that allow the identification of people at increased risk of suffering serious manifestations. A growing number of reports in the literature have suggested that the ABO blood group is related to the risk of COVID-19, demonstrating that people with type A blood have the highest risk, while people with type O blood the lowest. The objective of this review is to present a summary of the existing evidence in the recent scientific literature and to discuss these observations in the context of the knowledge of the association of blood groups to various infections and other diseases, as well as the potential mechanisms involved. Finally, the implications of the relationship between the blood groups and COVID-19 susceptibility are also discussed in relationship to the Guatemalan population.


Subject(s)
Humans , ABO Blood-Group System/genetics , SARS Virus , Disease Susceptibility/complications , Risk , Coronavirus Infections , Guatemala
15.
Article in Chinese | WPRIM | ID: wpr-879509

ABSTRACT

OBJECTIVE@#To delineate the blood group for a pair of twins with inconclusive ABO blood typing result.@*METHODS@#Serological test for blood group was carried out by using ABO and Rh Blood Grouping Cards (Microcolumn Gel Immunoassay). Sequence specific primer-PCR (PCR-SSP), direct sequencing and TA clone sequencing were used to analyze the ABO gene. Genetic status was analyzed by using 16 short tandem repeat (STR) markers.@*RESULTS@#Red blood cells of the twins displayed 2+ mixed agglutination phenomenon with anti-A, anti-A1 and anti-E. PCR-SSP and DNA sequencing of exons 6 to 7 revealed that they have an ABO*O.01.01/ABO*O.01.02 genotype. DNA sequencing of microsatellite enhancer region revealed presence of A gene. STR analysis revealed more than two haplotypes for 9 loci between the twins. After clustered by anti-A, the red blood cells were divided into two groups: A, CcDEe and O, CcDee, respectively.@*CONCLUSION@#Serological and molecular techniques have characterized the twins as blood group chimeras.


Subject(s)
ABO Blood-Group System/genetics , Alleles , Chimera/genetics , Genotype , Humans , Twins/genetics
18.
Rev. méd. Chile ; 143(4): 439-443, abr. 2015. tab
Article in Spanish | LILACS | ID: lil-747549

ABSTRACT

Background: Amerindian admixture is an important parameter to consider in epidemiological studies in American countries, to make a proper selection of cases and controls. Aim: To compare Amerindian admixture estimates obtained using ABO*A and ABO*O blood group alleles and ancestral identity markers (AIMs) in the mixed Chilean population. Subjects and Methods: Amerindian admixture rates were determined in 720 Chilean volunteers residing in Arica and born in the 15 regions of the country, using ABO*O and ABO*A alleles and 40 AIMs selected from more than 500,000 single nucleotide polymorphisms (SNP´s). Results: Mean admixture estimates obtained using ABO*O and ABO*A alleles and AIM s were 35, 47% and 48% respectively. There was concordance in estimates, with the exception of the admixture based on ABO*O allele and AIMs. Conclusions: In Chile, Amerindian admixture estimates obtained using ABO*A could be used as an alternative to AIMs in justified cases provided the sample size is reasonably large.


Subject(s)
Female , Humans , Male , ABO Blood-Group System/genetics , European Continental Ancestry Group/genetics , Indians, South American/genetics , Chile/ethnology , Genetics, Population , Gene Frequency/genetics , Genetic Markers/genetics , Phenotype , Polymorphism, Single Nucleotide/genetics , Reproducibility of Results
19.
Article in English | WPRIM | ID: wpr-64357

ABSTRACT

The Ael subgroup expresses the least amount of A antigens and could only be detected by performing the adsorption-elution test. The frequency of the Ael subgroup is about 0.001% in Koreans, and the Ael02 allele, which originates from A102, is the most frequently identified allele in the Korean population. We report a Korean family with the Ael03 allele identified by molecular genetic analysis. To the best of our knowledge, this is the first such report in Korea to date.


Subject(s)
ABO Blood-Group System/genetics , Alleles , Base Sequence , DNA Mutational Analysis , Exons , Frameshift Mutation , Humans , Male , Middle Aged , Pedigree , Phenotype , Polymerase Chain Reaction , Republic of Korea
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