Identification of a novel allele HLA-DRB1*0478 by sequence-based typing in a Chinese individual.

A novel allele HLA-DRB1*0478 is described. This variant has one nucleotide substitution in exon 2. This mutations result in an amino acid substitution at condon 70 (CAG --> CGG) from Gln to Arg.

Characterization of a new HLA-C allele in a Chinese family by sequence-based typing: HLA-Cw*0348.

The novel human leukocyte antigen (HLA)-Cw*0348 allele was identified by sequence-based typing in a Chinese family. This allele shows that the sequences of exons 1-3 of HLA-Cw*0348 are identical to those of HLA-Cw*030401 except for a nucleotide substitution that changes CCG to CTG at codon 57, resulting in an amino acid change from Pro to Leu in the protein, and this is a unique nucleotide change among the HLA-C alleles, suggesting a point mutation mechanism. The extended haplotype carrying the new allele was deduced from the family group typing and defined as A*110101, B*1301, Cw*0348, DRB1*0405, and DQB1*0402.

Sequencing analysis of RHD intron 7 and 9.

Whole length of RHD introns 7 and 9 of one normal Rh D-positive individual and 2 DEL samples, carrying RHD1227A allele, were sequenced and aligned. Thirty-three and 27 nucleotide variants were totally observed in intron 7 and intron 9, respectively (EMBL/GenBank/DDBJ EU372940 approximately 2). Among them, 8 variants in intron 7 and 7 in intron 9 were observed commonly in all 3 samples, whereas 2 variants in intron 7 and one in intron 9 were only found in 2 DEL samples, but not in the normal D-positive.

Identification of a new HLA-B*40 allele, HLA-B*4081, in a Chinese individual.

A novel human leukocyte antigen (HLA)-B*40 allele, officially named B*4081, was identified during routine high-resolution sequence-based typing in a Chinese potential hematopoietic stem cell transplantation donor. The HLA-B*4081 allele shows one nucleotide difference from B*400101 in exon 2 at nucleotide position 124 where G-->C (codon 18 GGG-->CGG) resulting in a coding change, 18Gly is changed to Arg, this is a unique nucleotide change among the HLA class I alleles, suggesting a point mutation mechanism.

[Study on the gene polymorphism of Auberger antigens in Chinese population].

Objective: To study the gene polymorphism of the Auberger antigens in Lutheran blood group system in Chinese population and establish a stable, accurate molecular method detecting Auberger antigens.

Methods: Peripheral blood samples from 162 randomly collected and unrelated volunteer blood donors were directly sequenced for the exon 12 at the gene locus of Auberger antigens. PCR products with novel nucleotide were further investigated by restriction fragment length polymorphism (RFLP) analysis.

HLA-A*3318, a novel allele, identified by sequence-based typing in a Chinese individual.

We report a novel human leucocyte antigen (HLA)-A allele, officially named as A*3318, which was found during high-resolution sequence-based typing in a Chinese potential hematopoietic stem cell transplantation donor. Compared with the HLA-A*330301 sequence, the A*3318 has one nucleotide substitution in exon 3: at nt 413 where A-->G resulting in an amino acid substitution from Q (CAG) to R (CGG) at codon 114.

Haemolytic disease of fetus and newborn caused by ABO antibodies in a cisAB offspring.

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.

Sequence-based typing characterization of the novel HLA-Cw*0340 allele in a Chinese individual.

The novel human leukocyte antigen (HLA)-Cw*0340 allele was identified by sequence-based typing in a Chinese individual. This allele shows that the sequences of exons 2-3 of HLA-Cw*0340 are identical to those of HLA-Cw*0302, except for a nucleotide substitution that changes CTC to ATC at codon 95, resulting in an amino acid change from Leu to lle in the protein; this allele also shows that the sequences of exons 2-3 of HLA-Cw*0340 are identical to those of HLA-Cw*030401 or HLA-Cw*030403, except for a nucleotide substitution that changes TAC to TCC at codon 116, resulting in an amino acid change from Try to Ser in the protein.

HLA-B*152703, a novel allele, which has arisen by silent mutation in codon 138.

A novel human leukocyte antigen-B (HLA-B) allele, officially named B*152703, was found during routine high-resolution sequence-based typing in a Chinese potential hematopoietic stem cell transplantation donor. Compared with the HLA-B*152701 sequence, the B*152703 has a silent substitution at position 486(G-->C) in exon 3.

A new HLA-A*24 variant, A*2485, identified by sequence-based typing in a Chinese individual.

We report the identification of the novel allele HLA-A*2485 that was found during routine high-resolution sequence-based typing of a Chinese bone marrow donor. The A*2485 allele has 1nt change from A*240201 at nt525 where T>A, codon 151 H>Q (CAT-->CAA).

[Application of 17 Y-chromosome specific STR loci in paternity testing].

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.

Genotyping of samples lacking expected antibodies in ABO blood group.

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.

[Identifying and sequence analysis of HLA-B*2736].

An unknown HLA-B allele which was similar to HLA-B*270401 was detected by FLOW-SSOPCR-SSP and heterozygous sequence-based typing (SBT) in Chinese Han individual. Its anomalous patterns suggested the possible presence of new allele. Amplifying exon 2-5(include intron 2-4) of the HLA-B*27 allele separately by using allele-specific primers and sequencing in both directions.

[Identification and sequence analysis of a novel HLA-A * 3018 allele].

To identify HLA novel allele in Chinese Han individuals, an unknown HLA-A allele was detected by PCR-SSP and FLOW-SSO in Chinese Han individuals. Heterozygous sequence-based typing (SBT) showed that there were 3 differences compared with database in exon 2. Its anomalous patterns suggested the possible presence of either a novel A * 30 or a novel A * 24.

[Molecular genetic analysis of FUT1 and FUT2 gene in para-Bombay Chinese: a novel FUT1 allele is identified].

Objective: Molecular genetic analysis of FUT1 and FUT2 gene was performed for seven Chinese Han individuals serologically typed as para-Bombay.

Methods: Seven DNA samples were studied by polymerase chain reaction and then by direct sequencing. Molecular cloning sequencing was done for an individual with a novel FUT1 allele.

[Progress of research on biochemistry characteristics of cell-free fetal DNA in maternal plasma and its application].

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.

A new HLA-A*30 variant, A*3018, identified by sequence-based typing in the Chinese population.

We report the identification of the novel allele HLA-A*3018 that was found during routine high resolution sequence-based typing of a Chinese bone marrow donor. The A*3018 allele has three nucleotides that differ from A*300101 at codon 17 (AGT-->CGC) and codon 18 (GGA-->GGG) in exon 2.

[Effect of platelet CD42a modification by mPEG-SPA with different molecular masses].

Objective: To observe the effect platelet antigen modification by mPEG-SPA with different molecular masses.

Methods: Platelet CD42a was modified by 5 kD and 20 kD mPEG-SPA, respectively, and the fluorescence intensity of CD42a was detect by flow cytometry and the three-dimensional structure of CD42a simulated to analyze the distribution of lysine in CD42a molecule.

Results: After platelet CD42a modification by 5 kD and 20 kD mPEG-SPA, the fluorescence intensity of CD42a decreased sharply by 85.

Identification of a novel HLA-B*56 allele, B*5618 and an extension of B*2736 by sequence-based typing.

We report the identification of a novel human leukocyte antigen (HLA)-B*56 allele, B*5618 and an extension of B*2736 that were found during routine high-resolution sequence-based typing in Chinese Han individual. The B*5618 allele has 4nt changes from B*5610 in exon 3, The B*2736 allele has 10nt changes from B*270401 in exons 3-4.

[The genetic polymorphisms of nine Y-STR loci with short fragment size alleles in southern Chinese Han population and its application in forensic science].

Objective: 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.

Methods: 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.