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Zhang X.,Liaoning Blood Center | Li J.,Liaoning Blood Center | Li J.,Shenyang Research Center for Stem Cell Clinical Application
Chinese Journal of Medical Genetics | Year: 2015

Objective To explore the molecular basis for an individual with a rare weak D phenotype. Methods Regular serological assaying and indirect antiglobulin testing (IAT) were performed to characterize the RhD blood group. Mutations of the RHD gene were screened by polymerase chain reaction (PCR), reverse transcription PCR and DNA sequencing. Amplified cDNA product was TA cloned and subjected to haplotype analysis. Results The RhD blood group of the proband was determined as weak D. The result of PCR amplification showed that all of the 10 exons of the RHD gene were present. Heterozygote status of 101A/G and 845A/G were determined by gDNA and cDNA sequencing. After TA cloning and haplotype sequencing, two alleles 101A>G mutation (weak D 101G) and 845G>A mutation (weak D type 15) were revealed. Conclusion 101A>G and 845G>A mutations are responsible for the low expression of RhD antigen on the red blood cells of the proband, which has resulted in a weak D phenotype.


Zhou Y.,Panjin Blood Bank | Li J.-P.,Transfusion Medicine Institute | Li J.-P.,Key Laboratory of Blood Safety Research of Liaoning Province | Li J.-P.,Key Laboratory of Blood Safety Research of Shenyang | Li J.-P.,Shenyang Research Center for Stem Cell Clinical Application
Chinese Journal of Tissue Engineering Research | Year: 2015

BACKGROUND: In recent years, with the development of China Marrow Donor Program and the improvement of human leukocyte antigen (HLA) typing technique, novel alleles of human leukocyte antigen have been discovered constantly in China. OBJECTIVE: To identify and confirm a novel HLA allele in a Chinese individual. METHODS: A new HLA allele was found during routine human leukocyte antigen genotyping by PCR-sequence specific oligonucleotide probes and sequencing-based typing. RESULTS AND CONCLUSION: The HLA-B locus hybridization probe reaction patterns of this sample did not match with any known HLA-B alleles or allelic combinations. Exons 2, 3 were sequenced in both directions using HLA-B sequence primer and group-specific sequencing primer. The obtained sequence had 2nts change from B*07:02:01 at nt 226 and nt 228 where A->G (codon 76 ATA->GTG) and resulting in a coding change, 76 isoleucine (I) was changed to valine (V). This nucleotide sequence has been submitted to the GenBank nucleotide sequence database and it is available under the accession number HM989017. A novel HLA allele, HLA-B*07:110, was identified, and was named officially by the WHO Nomenclature Committee. © 2015, Journal of Clinical Rehabilitative Tissue Engineering Research. All Rights Reserved.


Li J.-P.,Liaoning Blood Center | Li J.-P.,Key Laboratory of Blood Safety Research of Liaoning | Li J.-P.,Key Laboratory of Blood Safety Research of Shenyang | Li J.-P.,Shenyang Research Center for Stem Cell Clinical Application | And 12 more authors.
Tissue Antigens | Year: 2013

B*07:110 has two nucleotides (nts) change from B*07:02:01 where 76 I is changed to V. © 2013 John Wiley & Sons A/S.


Li J.-P.,Key Laboratory of Blood Safety Research of Liaoning | Li J.-P.,Key Laboratory of Blood Safety Research of Shenyang | Li J.-P.,Liaoning Blood Center | Li J.-P.,Shenyang Research Center for Stem Cell Clinical Application | And 12 more authors.
Tissue Antigens | Year: 2014

HLA-B*55:46 has one nucleotide change from HLA-B*55:02:01 where 138N is changed to D. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


Zhang X.,Liaoning Blood Center | Li J.,Liaoning Blood Center | Li J.,Shenyang Research Center for Stem Cell Clinical Application
Chinese Journal of Medical Genetics | Year: 2015

Objective To explore the molecular basis for a rare Axl3B phenotype of the ABO subtype. Methods Serological assays were carried out to characterize the erythrocyte phenotype of the discrepant sample. Exons 6 and 7 of the ABO gene were amplified with polymerase chain reaction and subjected to direct sequencing. The amplicons were also cloned to separate the two alleles. Results Both A and B antigens were detected on the red blood cells of the proband, and anti-A antibody was detected in the serum. The serological phenotype of the sample was identified as AxB. DNA sequencing showed heterozygous status for 297AG, 526CG, 657CT, 703AG, 796AC, 803GC, 930GA and 940AG in exons 6 and 7. After cloning and sequencing, two alleles Axl3 and B101 were obtained. The sequence of Axl3 showed a nucleotide change(A to G) at position 940. Conclusion The 940A>G mutation of the α-1, 3-N-acetylgalactosaminyltransferase gene has resulted in the reduced expression of A antigen.


Lin F.-Q.,Key Laboratory of Blood Safety Research of Liaoning | Lin F.-Q.,Key Laboratory of Blood Safety Research of Shenyang | Lin F.-Q.,Liaoning Blood Center | Li X.-F.,Key Laboratory of Blood Safety Research of Liaoning | And 12 more authors.
Tissue Antigens | Year: 2015

HLA-DRB1*11:106 has 1 nucleotide change from HLA-DRB1*11:01:01 at nucleotide 155 (G → A). © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd 85 1 January 2015 10.1111/tan.12483 New allele alerts New allele alerts © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


Li J.-P.,Liaoning Blood Center | Li J.-P.,Key Laboratory of Blood Safety Research of Liaoning | Li J.-P.,Key Laboratory of Blood Safety Research of Shenyang | Li J.-P.,Shenyang Research Center for Stem Cell Clinical Application | And 12 more authors.
Tissue Antigens | Year: 2015

HLA-DRB1*09:12 allele differs from HLA-DRB1*09:01:02 by a single nucleotide substitution at codon 41 (AAG → AAC). © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


Li X.-F.,Liaoning Blood Center | Li X.-F.,Liaoning Key Laboratory of Blood Safety Research | Zhang X.,Liaoning Blood Center | Zhang X.,Liaoning Key Laboratory of Blood Safety Research | And 8 more authors.
PLoS ONE | Year: 2014

HLA-A, -B and -DRB1 allele frequencies and their haplotype frequencies in 21,918 Chinese residents living in Liaoning Province, who were registered as volunteer donors of China Marrow Donor Registry, were investigated. They are composed of 93.37% Han Chinese, 5.1% Manchus, 0.57% Mongols, 0.46% Hui persons, 0.29% Koreans and 0.14% Xibe ethnic group. In total eighteen different HLA-A alleles, forty-eight different HLA-B alleles and fourteen different HLA-DRB1 alleles have been identified. Their frequencies are in agreement with the Hardy-Weinberg equilibrium. For Han Chinese in Liaoning, 1,534 different HLA-A-B-DRB1 haplotypes were identified, with a frequency of higher than 0.01%. A*30-B*13-DRB1*07, A*02-B*46-DRB1*09 and A*02-B*13-DRB1*12 are the most frequent haplotypes among Liaoning Han. While Liaoning Han, Liaoning Manchu, Liaoning Mongol, Liaoning Hui and Liaoning Korean share the northern Han characteristic haplotypes, all minority ethnic groups with the exception of Liaoning Manchu have developed their own unique HLA profiles. This dataset characterizes the HLA allele and haplotype frequencies in the Liaoning area and suggests that it is different from those in other parts of China and ethnic groups, which implicates transplant donor searching strategies and studies on population genetics. © 2014 Li et al.


Lin F.,Liaoning Blood Center | Zhang X.,Liaoning Blood Center | Li J.,Liaoning Blood Center | Li J.,Shenyang Research Center for Stem Cell Clinical Application
Chinese Journal of Medical Genetics | Year: 2014

Objective To study the effect of 905A>G mutation of α-1,3 galactosyltransferase of ABO gene on B antigen expression. Methods Three samples were diagnosed as B subgroup by serological test. Genotyping and sequencing were performed with polymerase chain reaction-sequence specific primer ( PCR-SSP), direct sequencing and gene dones of exons 6 and 7 of the ABO locus. Results The sequence of B allele has differed from that of regular B101 allele with a 905A>G missense mutation in exon 7, which resulted in an amino acid substitution (D302G) in all of the three B subgroup samples. Conclusion 905A> G mutation can reduce the expression of B antigen.


Zhang X.,Liaoning Blood Center | Li J.,Liaoning Blood Center | Li J.,Shenyang Research Center for Stem Cell Clinical Application
Chinese Journal of Medical Genetics | Year: 2015

Objective To study the molecular basis of O04 allele expression of weak A antigen at the ABO locus. Methods Serological assays were performed to characterize the erythrocyte phenotype of a proband. Mutations of the ABO gene were screened with polymerase chain reaction (PCR), reverse- transcription PCR (RT-PCR) and DNA sequencing. Results The proband was identified as weak AB phenotype by serological assays. A B101 allele and an O04 allele were identified by gene sequencing, gene cloning and RT-PCR. Conclusion A B101 allele and an O04 allele were confirmed by the sequencing based typing in a suspicious ABO blood group. The O04 allele is characterized by expression of weak A antigen.

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