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ABSTRACT: This study was purposed to investigated and analyze the allelic frequency of a common allele HLA-C*08:22 in the southern Chinese Han population. A total of 32 samples with the C*08:01:01/08:22 ambiguous results previously identified in 163 unrelated southern Chinese Han population by routine sequencing based typing (SBT) at exons 2 - 4 of HLA-C gene were subjected to HLA-C SBT at exons 5 and 6 using our in-house method. Forty C*08:01:01-positive unrelated donor/recipient pair identified before the C*08:22 allele were officially nomenclatured and released by the World Health Organization (WHO) Nomenclature Committee for Factors of HLA System, were re-sequenced at exons 2 - 6 of HLA-C gene by our in-house SBT method. The allele assignment was accomplished with the Assign 3.5 SBT software. The results showed that three samples were identified as C*08:22-positive in the 32 samples with C*08:01:01/08:22 ambiguous results, the allele frequency of C*08:22 was 0.92% in the southern Chinese Han population. Retrospective analysis indicated that 2 donor/recipient pairs previously identified as C*08:01:01-positive were actually C*08:22-positive in the 40 tested donor/recipient pairs. It is concluded that the novel C*08:22 allele is the common allele in southern Chinese Han population, it can't be considered as rare allele and is ruled out for the samples with C*08:01:01/08:22 ambiguous results.
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 12/2011; 19(6):1493-5.
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ABSTRACT: To analyze the human leukocyte antigen complex class I (-A, -B & -C) and class II (-DRB1 & -DQB1) linked haplotypes of Guangdong Han nationality and to study the recombination events of five classical loci in the inheritance of HLA haplotypes.
A total of 939 peripheral blood samples were collected from 198 families in Guangdong Han nationality who came to our center for HLA typing from 2000 August to 2009 December. HLA-(A, B & DRB1) and HLA-(C & DQB1) alleles were typed by low-resolution polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSO) and PCR-sequence specific primers (PCR-SSP) methods respectively. Then the recombination sites were analyzed by familial study. The samples of 52 individuals from the families with exchange recombination were analyzed by the sequence-based typing (SBT) to judge whether the recombination was interallelic or interlocus exchange.
Among 543 offspring individuals of 198 families in Guangdong Han nationality, 9 individuals with HLA-A-C-B-DRB1-DQB1 linked haplotypes had a recombination rate of 1.657%. Among 9 HLA haplotypes recombined families, 3 of them were found to have a crossover between HLA-A and -Cw loci and 6 of them a crossover between HLA-B and -DRB1 loci. Four of these recombination events occurred in the most common haplotypes A*3303-Cw*0302-B*5801-DRB1*0301-DQB1*0201 of Guangdong Han nationality. Among 9 cases of recombination, 5 of them were formed by a crossover between maternal chromosomes and 4 cases a crossover between paternal chromosomes. Three individuals with an exchange between A/Cw loci were all females. Among 6 cases with an exchange between B/DRB1 loci, 5 of them were males and 1 case was female.
During the inheritance, recombination of HLA linked haplotype mainly occurred between A/Cw loci and B/DRB1 loci, the recombination is related to the haplotype-specificity and sex-specificity.
Zhonghua yi xue za zhi 08/2010; 90(32):2237-41.
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ABSTRACT: In the present study, a high-resolute method for cloning and sequencing genomic full-length HLA-A and -B using 20 Chinese Han individuals was established. We detected 10 HLA-A allele sequences 4.2 kb in length and 6 HLA-B allele sequences 3.7 kb in length, and the sequences included all exons, all introns, 5'promoter, and 3'UTR of the two genes. All sixteen sequences have been submitted to GenBank and IMGT/HLA database. A*1153 is a novel allele, and the introns of B*151101 are firstly reported here. The 5'promoter and 3'UTR sequences of 5 HLA-A alleles and 2 HLA-B alleles are also firstly disclosed, and all other alleles have extended the genomic full length sequences released in IMGT/HLA database. The polymorphic structures of upper 5'promoter and downstream 3'UTR, which were uncovered in IMGT/HLA database, are firstly depicted in Chinese Han individuals. Twenty-six single nucleotide polymorphisms (SNPs) and one 3 bp-insertion/deletion (Indel) were located in the upper 5'promoter and 14 SNPs were located in the 3'UTR of HLA-A. In addition, five SNPs and one 1 bp-indel were located in the upper 5'promoter and 5 SNPs were located in the 3'UTR of HLA-B. Through analyzing the phylogenetic trees of 5'promoter, exons and 3'UTR of the two genes, we found that the evolution history of regulatory regions and exons is different between the two genes. The regulatory regions are tightly linked with exons in most of HLA-A alleles excluding A*24020101. On the contrary, recombinant events may occur frequently between regulatory regions and exons in most HLA-B alleles.
Hereditas (Beijing) 07/2010; 32(7):685-93.
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ABSTRACT: Thirst study was purposed to explore the genetic polymorphism of Chinese Zhuang population at HLA-Cw locus by sequence based typing (SBT). A total of 150 unrelated blood samples from Chinese Zhuang population were subjected to sequencing at exon 2, 3 and 4 of HLA-Cw gene in both directions by using SBT technique established by our laboratory. The purified products of sequencing reaction were run by means of electrophoresis on the ABI 3730 DNA Sequencer and the assignment of HLA-Cw genotype was accomplished by using the Assign 3.5 software. The consensus sequence at exon 2, 3 and 4 of HLA-Cw gene for each sample was imported into the Assign 3.5 software. The results showed that 33.33% of tested samples could obtain an unique genotype, genotype in 63.33% of tested samples with ambiguous results could be assigned by ruling out the rare alleles according to the NMDP Rare Allele List File; however, the final genotype in rest 3.33% of the detected samples could be defined when subjected to further confirmatory testing by PCR-SSP. In this detection 16 HLA-Cw alleles were identified, the common alleles with a frequency of > 10% were Cw*0304 > Cw*0102 > Cw*0801 > Cw*0702. The value for gene diversity (GD) was 0.9297, The frequency for Cw*01, 03, 07, 08, 12, 14 (Cw 1 allele group) and Cw*02, 04, 05, 06, 15, 16, 17, 18 (Cw 2 allele group) was 0.8967 and 0.1032, respectively, which indicated that the Cw 1 allele group is the dominant ligand for KIR in Chinese Zhuang population. 51 genotypes were determined and the distribution of genotype frequency was in line with Hardy-Weinberg principle. It is concluded that the obtained HLA-Cw allele frequency and its distribution characteristics of Chinese Zhuang population can provide valuable data in the studies of anthropology and the association of HLA-Cw with disease.
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 06/2010; 18(3):771-5.
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ABSTRACT: To analyze the molecular genetic polymorphism of full-length HLA-Cw gene, a total of 28 samples with known genotypes from Chinese Han population were amplified by long-range PCR using high-fidelity Pfu polymerase. A fragment 4.5 kb in length of HLA-Cw gene was subjected to cloning and haplotype sequencing. The single nucleotide polymorphisms (SNPs) in all segments of the whole region of HLA-Cw gene were analyzed. As a result, we detected 22 different HLA-Cw alleles in 28 samples, all of which were submitted to GenBank and the IMGT/HLA Database. Among the 22 HLA-Cw alleles, the intronic sequences of Cw*030301, Cw*0706 and Cw*140201 were firstly elucidated. The novel intronic sequence and the SNPs information may help to design allele-specific primers for accurate sequence-based typing (SBT) and to avoid allele dropout events in SBT test. We aligned all the diploid sequences using ClustalX program and imported them into Dnasp4.0 to calculate polymorphism in all coding- and non-coding regions. We found 244 SNPs and 10 insertion/deletions (Indels). According to the analysis of polymorphism level, phylogenetic trees and frequency spectrum, we proposed that the evolution of intron 4 and exon 5 was under balancing selection. Selection on these segments indicated that they may be functionally important in evolution of HLA-Cw gene. The full-length sequences obtained and related SNPs information can be used as resources of markers for high-resolution typing, complex diseases association studies and human evolution.
Hereditas (Beijing) 05/2010; 32(5):473-9.
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ABSTRACT: This study was aimed to develop and establish an efficient method for high through-put automatically extracting genomic DNA from EDTA-anticoagulated whole blood samples, and to utilize this method in routine rSSO HLA genotyping by luminex flow array assay, the genomic DNA was extracted automatically from 400 microl blood samples by using TECAN DNA workstation and 96-well plate with 2 ml volume per well. The yield and purity of each DNA sample was tested by UV-spectrophotometer, the integrity of these DNA samples were run electrophoresis on the agarose gel. Each DNA sample was subjected to PCR amplification and hybridization using One lambda rSSO HLA-A, -B and -DRB1 commercial kit, the fluorescent intensity for positive bead and negative bead hybridized with HLA-A, -B and -DRB1 PCR products were calculated and analyzed. The results showed that the mean yield and purity (A260/A280) of genomic DNA extracted from 400 microl whole blood samples were 3.217+/-0.715 microg and 1.710+/-0.103 respectively. The molecular weight was more than 15 kb in size and the fluorescent intensity for positive bead hybridized with HLA-A, -B and -DRB1 PCR products of each sample was >600 RFU, however, the fluorescent intensity for negative bead for each sample was <50 RFU. It is concluded that the highly qualified genomic DNA can be extracted automatically from blood samples of marrow-donors by using TECAN DNA workstation, and the extracted DNA samples are suitable for high through-put HLA genotyping by luminex flow array assay and other downstream transplant immunological and molecular biological experiments.
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 10/2009; 17(5):1265-8.
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ABSTRACT: This study was aimed to discover the novel HLA recombination haplotypes and investigate the distribution of haplotypes in Chinese Han population. Based on the HLA-A, B, DRB1 typing results of 179 family members, 791 haplotypes were assigned by the mode of inheritance. The results showed that a total of 4 novel recombinant haplotypes in HLA-DRB1 locus region were observed in 4 families, which ratio of paternal to maternal chromosomes was 3:1. The recombination ratio between HLA-DRB1 and HLA-A or B loci was 0.92% (4/433). There were a total of 362 kinds of HLA-A, -B, -DRB1 haplotypes to be confirmed in Chinese Han partial population. A33-B58-DR17, A2-B46-DR9, A30-B13-DR7, A11-B13-DR15, A11-B75-DR12 and A2-B46-DR14 were the most common haplotypes that was consistent with the distribution of HLA alleles in unrelated donors. There were A1-B63-DR12, A29-B46-DR15, A1-B61-DR10, A34-B35-DR9, A29-B54-DR4, A23-B13-DR16 and A34-B62-DR15 haplotypes and so on, which were rare haplotypes not yet reported in Chinese. It is concluded that the HLA-A-B-DRB1 haplotypes would be confirmed by analysis of their family pedigree. The results obtained in this study are basic data for study of Chinese anthropology, organ transplantation and disease correlation analysis.
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 07/2009; 17(3):782-6.
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ABSTRACT: To explore the distributive characteristics for leukemia and to provide scientific reference for its prevention and intervention.
Microsoft SQL 2005 databases was used to make a mathematical analysis of 3708 patients with leukemia in Chinese Marrow Donor Program (CMDP) from 2000 to 2006. The distributive characteristics were calculated by sex, age and area of patients with leukemia and then compared by constituent ratio and relative ratio statistics method.
A total of 3708 cases of leukemia were registered for waiting donor during the period 2000-2006 in CMDP, the age of patients were from 7 months to 69 years, the median age of diagnosis was 24.5 years, standard deviation was 6.7-years-old; males suffered more than females, and the ratio was 1.95: 1 (2451/1257). There were 1202 patients with acute lymphoblastic leukemia (ALL), 1066 with acute myeloid leukemia (AML), 1435 with chronic myeloid leukemia (CML), 5 with chronic lymphoblastic leukemia (CLL), CML was the most common patients. The distributive of 3708 patients with leukemia peak was from 15 to 30 years age group, 542 patients were at the age of 15 years, 559 patients were at the age group above 20 years, 514 patients were at the age above 25, 522 patients were at the age over 30-years-old. ALL patients were accounted for 49.36% (613/1242), AML patients accounted for 27.78% (245/1242), CML patients accounted for 22.78% (283/1242), CLL patients accounted for 0.08% (1/1242) in the age group of under 20 years (childhood group). All subjects were mainly in childhood patients with leukemia; The distributive of patients with leukemia in 30 areas were different, leukemia patients were not registered in one area, 494 patients were at the highest peak, 101 patients were in the median.
The majority of leukemia patients for waiting stem cell transplantation were registered among children and the adolescents groups, males were suffered more than the females. For children, the major type of leukemia was ALL, being necessary to pay more attention to the education of health, and the precaution of leukemia. The distributive of patients with leukemia for waiting stem cell transplantation was different in 30 areas, and the peak region of leukemia should be in Jiangsu, Guangdong, Shangdong, and Zhejiang provinces.
Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] 02/2009; 43(1):19-23.
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ABSTRACT: The Lutheran blood group is a complex system consisting of 19 identified antigens. It belongs to the immunoglobulin family of receptors and adhesion molecules. Four pairs of antigens show allelic relationships while other antigens are of very high incidence. In this study, we performed genetic polymorphism analyses by molecular techniques of the Lutheran blood group system in Chinese subjects. Blood samples were collected from randomly-selected healthy donors and analyzed by PCR-RFLP or SBT methods. LU1/2(Lu(a)/Lu(b)), LU6/9, LU8/14, and LU18/LU19(Au(a)/Au(b)) antigen polymorphisms were detected as follows: 1102 individuals were diagnosed as Lu(a-b+) type; 117 individuals were all LU(6+9-) genotypes; 119 individuals were all LU(8+14-) genotypes. Among 368 individuals, 278 showed homozygous nt1615A, 6 showed homozygous nt1615G, and 84 showed nt1615A/G heterozygosity. The gene frequencies of Au(a) and Au(b) in Chinese subjects were 0.8695 and 0.1304 respectively. A novel allele was identified in 4 Lu(18+19-) phenotype cases from 3 families.
Annals of clinical and laboratory science 02/2009; 39(1):38-42. · 0.96 Impact Factor
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ABSTRACT: ABO hemolytic disease of fetus and newborn (ABO-HDFN) occurs almost exclusively in infants of blood group A or B who are born to group O mothers because IgG anti-A or -B occurs more commonly in group O than in group A or B individuals. We report a case of clinically significant ABO-HDFN where the mother was blood group O with elevated IgG anti-A and anti-B titers and delivered a child with an A2B phenotype. This unusual ABO constellation between mother and infant was based on the inheritance of a rare ABO allele encoding for a glycosyltransferase capable of synthesizing both A and B antigens. Because both anti-A and anti-B antibodies may have been involved in hemolysis in this case, it may be relevant to consider the cisAB phenomenon when monitoring ABO-incompatible pregnancies and births.
Transfusion and Apheresis Science 10/2008; 39(2):123-8. · 1.25 Impact Factor
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ABSTRACT: The aim of this study was to investigate the genetic polymorphism of Y-chromosome specific short tandem repeat (Y-STR) loci in Zhuang ethnic group of China. Nine Y-STR loci were amplified by single multiplex and the PCR products were detected by using ABI Prism(TM) 3100 DNA Sequencer. The allele frequencies and haplotype frequencies at 9 Y-STR loci were determined in a total of 85 unrelated male individuals from Zhuang ethnic group of China. The results indicated that in the 85 unrelated male individuals, except for the DYS426 locus with a low GD value, the GD values for other 8 Y-STR loci ranged from 0.4387 to 0.8129. A total of 70 haplotypes at 9 Y-STR loci were found, the haplotype diversity was 0.9926. It is concluded that the haplotype polymorphism of 9 Y-STR loci are highly polymorphic in Zhuang ethnic group and also significantly different from our previous reported data of unrelated male individnals in southern Chinese Han population.
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 07/2008; 16(3):694-8.
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ABSTRACT: The purpose of this study was to explore the ability of discrimination of the AmpFlSTR Yfiler PCR amplification kit containing 17 Y-STR loci and the allelic mutation in the practice of paternity testing in Chinese population. 36 non-paternity father/son pairs and 84 confirmed father/son pairs, which had been previously genotyped by using Reliagene Y-PLEX 6 commercial kit and the "9 Y-STR multiplex with reduced-size amplicons" developed by our laboratory, were subjected to Y-STR genotyping at 17 loci using the AmpFlSTR Yfiler PCR amplification kit. 17 Y-STR loci were amplified in single multiplex and the PCR products were detected by using ABI Prism 3100 DNA Sequencer. The number of Y-STR exclusion for each non-paternity father/son pair and the mutation events for each confirmed father/son pair were calculated and the observed results were compared with our previous reported data determined by Reliagene Y-PLEX 6 kit and the "9 Y-STR multiplex with reduced-size amplicons". The results showed that out of 36 non-paternity father/son pairs subjected to Y-STR genotyping by using the AmpFlSTR Yfiler kit, one case with no Y-STR exclusion of paternity and 35 cases with more than 3 Y-STR exclusions for each father/son pair were observed. The percentage of cases with more than 3 Y-STR exclusions in all the tested non-paternity cases for Yfiler kit was 97.22% (35/36), which was more than that of Reliagene Y-PLEX 6 kit (92.11%, 35/38) and our "9 Y-STR multiplex with reduced-size amplicons" (91.67%, 33/36). Except for single father/son pair with no Y-STR exclusion, an average of 11.3 Y-STR exclusions was observed in other 35 non-paternity father/son pairs. In the 84 confirmed father/son pairs, 5 mutation events with a single unit repeat change at DYS437, DYS439, DYS635, DYS389II and DYS19, respectively, were identified using the Yfiler kit. The average mutation rate was estimated at 3.50 x 10(-3) per locus per generation. The cases with Y-STR mutation events in all tested confirmed father/son pairs for Yfiler system were 5.95% (5/84), which was significantly higher than that of Y-PLEX 6 (2.15%, 2/93) and "9 Y-STR multiplex with reduced-size amplicons" (no mutation events in the same 84 confirmed father/son pairs). It is concluded that the Yfiler kit which allowing simultaneous analysis of 17 Y-STR loci offers a high ability of discrimination for paternity testing, however, the Y-STR allelic mutation of the Yfiler system can not be neglected.
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 07/2008; 16(3):699-703.
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ABSTRACT: In order to elucidate the expression and molecular genetic background of ABO gene seven samples with ABO discrepancy further identified as bi-specific ABO gene were studied. All these samples were subjected to phenotyping by monoclonal and polyclonal antisera and were then genotyped by direct DNA sequencing and haplotype-sequencing at the exon 6 and 7 of ABO gene. As a result, six ABO dual-specific alleles were identified in Chinese population. An antigen expressed by these B (A) or Cis-AB individuals varied from very low level to the normal level, compared with common A blood group samples. In conclusion, molecular genetic backgrounds of two pairs out of four samples in all samples were the same, however, the ABO expression showed diverse.
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 05/2008; 16(2):421-4.
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ABSTRACT: This study was aimed to establish the reliable genotyping method of human platelet antigens of HPA-15 system by PCR-SSP and to use this assay in the further HPA genotyping of volunteer platelet donors. 3 sequence-specific primers recommended by the 11th Platelet Genotyping and Serology Workshop on behalf of International Society of Blood Transfusion (ISBT) were synthesized. The concentration of each primer pair, the concentration of Mg(2+) and the PCR conditions were adjusted to optimize the conditions so that HPA-15 system could be specific amplified. The accuracy and reliability of the developed assay was evaluated and confirmed by typing the coded DNA samples provided by the 11th Platelet Genotyping and Serology Workshop. As a parallel control, a total of 50 volunteer platelet donors in Shenzhen were genotyped by both our assay and the G&T commercial kit at HPA-15 system. 10 coded samples distributed by the 11th Platelet Genotyping and Serology Workshop were genotyped by established PCR-SSP method. The results showed that a concordance rate of 100% was observed between the results obtained by established PCR-SSP method and the results provided by ISBT report. The HPA gene frequencies observed in 50 randomly-selected platelet donors in Shenzhen were 0.5100 and 0.4900 for HPA-15a and HPA-15b respectively. In conclusion, PCR-SSP assay established in our study provides a simple, rapid and accurate method for HPA-15 system genotyping, which assay is suitable for routine clinical HPA genotyping and shows a broad prospect in its further applications.
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 02/2008; 16(1):185-8.
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ABSTRACT: To study the genetic polymorphisms of Y-chromosome-specific STR loci in Chinese of different surnames, 9 Y-STR loci were amplified by single fluorescent multiplex PCR and the PCR products were detected by using ABI PrismTM 3100 DNA Sequencer. Samples were randomly-selected from male blood donors in ShenZhen. These individuals, who were otherwise unrelated, had the most common surnames among Chinese as their surnames, namely Li, Wang or Zhang. There were 139 subjects with surname Li, 118 with surname Wang and 119 with the surname Zhang. In the Li population, a total of 126 haplotypes was found and 118 of them were unique, with a haplotype diversity 0.9974. In the Wang population, a total of 105 haplotypes was found and 94 of them were unique, with a haplotype diversity of 0.9953. In the Zhang population, a total of 101 haplotypes was found and 88 of them were unique, with a haplotype diversity of 0.9964. Our results indicated that the genetic polymorphisms of Y-STR haplotypes at these 9 loci in unrelated male individuals with Chinese surnames of Li, Wang or Zhang are highly polymorphic and showed no significant differences with our previous data of haplotype polymorphisms in unrelated male individuals from the Chinese ethnic Han population.
Hereditas (Beijing) 12/2007; 29(11):1336-44.
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ABSTRACT: Cell-free fetal DNA in maternal plasma of pregnant woman, originated from fetal and / or placental cells undergoing apoptosis, is mainly the short-sized DNA fragments of less than 313 base pairs in length for the sake of nuclear endonuclease selectively cleaving fetal DNA during the apoptosis process. The mean cell-free circulating fetal DNA in maternal plasma accounted for 3.4% and 6.2% of plasma total DNA during the early and the late gestation, respectively. Owing to its relative abundance, circulating fetal DNA in maternal plasma has now become the important DNA source for non-invasive prenatal molecular genetic diagnosis and it is widely used in fetal sex-determination, detection of fetal Rh (D) sequence in the plasma of the rhesus-negative woman, fetal aneuploidy detection, fetal STR genotyping and other clinical applications. Cell-free fetal DNA source, concentration, purity, size, distributions and postnatal clearance of fetal DNA in maternal plasma as well as the reported clinical applications are summarized and discussed in this paper. Based on the molecular characteristics of cell-free fetal DNA and the target gene, the using of appropriate molecular diagnosis strategy and experimental design as well as reducing the fragment size of PCR product and adjusting the PCR conditions to the optimum enable the improvement of non-invasive prenatal diagnosis accuracy.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 07/2007; 24(3):314-8.
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ABSTRACT: In order to study the genetic status of a rare chimeric family, some samples of A(3)B(3) family were identified by sequencing of ABO gene; flow-rSSO and PCR-SSP were used to detect loci of HLA-A, B, DRB1 genes, and multiplex amplifying with fluorescence-dye were performed for 16 short tandem repeat (STR) loci. The results indicated that two individuals from A(3)B(3) family contained more than two alleles at ABO gene, HLA-B, DRB1 and some STR loci. In conclusion, analysis of chimeric blood group by using genotyping techniques clearly demonstrating genetic status of this rare chimeric blood group promotes further elucidation of the existing state of specific genetic status.
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 05/2007; 15(2):417-20.
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ABSTRACT: We report nine donations with ABO inconsistency in reverse typing caused by partly or entirely missing antibodies. A and B antigens and antibodies were examined by serological blood typing, and ABO deoxyribonucleic acid (DNA) analyses were performed by sequence-specific priming and sequencing. A B101 allele was demonstrable in a case with O phenotype. The molecular mechanisms in deficiency of natural ABO antibody could be partly clarified. The ABO genotyping technique is an accurate method for determining the blood samples involved in ABO grouping discrepancies and is a valuable complement to serology for correct determination of donor blood status. The mechanisms involved in the absence of potent natural antibodies directed against A and B antigen lacking on an individual's own red cell membranes remain to be further investigated.
Journal of Clinical Laboratory Analysis 02/2007; 21(6):363-6. · 1.38 Impact Factor
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ABSTRACT: The ABO blood group system is the most important in transfusion medicine. O blood group is common in Chinese Han people, but the distribution of various O alleles is unknown. Sequences of exon6 and exon7 of the O allele at the ABO gene locus were studied in 100 individuals of the O phenotype randomly selected from the Chinese Han population. Some samples, when required, were cloned and sequenced spanning exon6 and exon7. Eight O alleles were found in the Chinese population. Most have the 2 common O01 or O02 alleles. The allele frequency of ABO*O01 was 0.47, and that of ABO*O02 was 0.495. One individual was found to have O05 allele. Five alleles were found to differ from all alleles reported to date. Four of these alleles differed from either the O01 allele (1 out of 4) or O02 allele (3 out of 4) by 1 point mutation at A468G, G489A, T526C, or T1104G. The fifth allele differed from the O01 allele since it does not have nt261G deletion but has C467T mutation. This novel allele occurred in 2 individuals. O genetic analysis suggests that the O01 allele prevails, with O1v accounting for about 97% of these in the Chinese Han population. The O03 allele that has been shown to occur with a frequency of <5% in other populations was not detected. But the novel O allele without 261G deletion has been found in Chinese for the first time. Surely more O alleles will be found in the Chinese population.
Annals of clinical and laboratory science 01/2007; 37(1):71-4. · 0.96 Impact Factor
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ABSTRACT: To study the genetic polymorphisms of 9 Y-chromosome specific STR loci that the allele size is less than 180 bp in length in the southern Chinese Han population, and to utilize the studied result to forensic science.
Nine Y-STR loci were amplified by single multiplex PCR, and the PCR products were sequenced by using ABI Prism 3100 DNA Sequencer. The allele and haplotype frequencies at 9 Y-STR loci were determined in a total of 213 unrelated males from southern Chinese Han population. Eighty-four father/son pairs with demonstrated paternity and thirty-six non-paternity father/son pairs were detected by using our Y-STR multiplex system.
Three Y-STR alleles for DYS426, five alleles for DYS393, DYS460, DYS391 and DYS389 I respectively, six alleles for DYS456, seven alleles for both H4 and DYS388, and eight alleles for DYS458 loci were detected in 213 unrelated male individuals. Except for the DYS426 locus with a low GD value of 0.1489, the GD values for other 8 Y-STR loci ranged from 0.5064 to 0.9133. A total of 178 haplotypes were found at 9 Y-STR loci, of which 154 haplotypes were observed only once, and the haplotype diversity was 0.9983. None of Y-STR allele mutation was observed in the 84 father/son pairs with demonstrated paternity. Among the 36 non-paternity father/son pairs, two cases could get the paternity exclusions at 2 Y-STR loci; and the paternity of 33 cases could be ruled out by 3 or more Y-STR loci; only one case was found no exclusion of paternity regardless of detecting 9 Y-STR loci.
This result indicates that the 9 Y-STR loci with short fragment size alleles are highly polymorphic. The fluorescent multiplex amplification system that we developed is suitable for personal identification and paternity testing.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 09/2006; 23(4):470-4.
