Association between the rs1007888 polymorphism of macrophage migration inhibitory factor gene and coronary heart disease in the Kazakhs of China / 中国组织工程研究

BACKGROUND:Macrophage migration inhibitory factor (MIF) is a multi-potent cytokine that makes considerable contribution to the regulation of inflammatory response and immune response in the body. MIF rs1007888 is associated with various inflammatory diseases, but the correlation between rs1007888 and coronary heart disease in the Kazakhs of China has been rarely explored. OBJECTIVE:To investigate the relationship between rs1007888 gene polymorphisms in MIF gene and coronary heart disease in the Kazakhs from Xinjiang Uygur Autonomous Region, China. METHODS:A total of 230 Kazakh patients with coronary heart disease evidenced by coronary arteriography between December 2012 and July 2014 were recruited, and another 478 Kazak controls were free from coronary artery disease with normal angiograms. Real-time fluorescence quantitative PCR assay was used to detect the rs1007888 polymorphisms of MIF gene. Alele and genotype distributions of the rs1007888 polymorphism were compared between patients and controls. RESULTS AND CONCLUSION:Distribution of genotypes in the two groups appeared to be in Hardy-Weinberg equilibrium (P> 0.05). The alele frequencies and genotypes of MIF-rs1007888 showed no significant difference between the two groups (P > 0.05). Therefore, the genetic variation of rs1007888 in MIF gene is not associated with coronary heart disease in the Kazakhs of China.

Identification of a novel human leucocyte antigen allele B*07:110 / 中国组织工程研究

BACKGROUND:In recent years, with the development of China Marrow Donor Program and the improvement of human leukocyte antigen (HLA) typing technique, novel aleles of human leukocyte antigen have been discovered constantly in China. OBJECTIVE:To identify and confirm a novel HLA alele in a Chinese individual. METHODS: A new HLA alele 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 aleles or alelic 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 alele, HLA-B*07:110, was identified, and was named officialy by the WHO Nomenclature Committee.

Identification of novel HLA alleles：HLA-A*24:233 and HLA-A*26:89 / 中国组织工程研究

BACKGROUND:The discovery of novel HLA aleles is accelerated by development of molecular biology and applications of numerous new technologies. These new findings not only rich HLA family, but also find a breakthrough point for the study of genetic superiority or disappearance of national gene. OBJECTIVE:To identify two novel HLA-A aleles and to analysis their nucleotide sequences. METHODS:The two samples from two volunteers of Chinese Marrow Donor Program were detected using PCR-SBT and GSSP methods. The HLA-A locus in the two samples were both abnormal genes, and the nucleotide sequence differences were analyzed. RESULTS AND CONCLUSION: The sequences of the samples were different from al aleles in the HLA databases. Sample 1 was found to be different from the closet matching alele A*24:02:01 in one nucleotide substitutions, 360 G > C in exon 3, resulting in amino acid changed from glutamine to histidine at codon 96; and sample 2 differed from A*26:01:01 in one nucleotide substitution, 97 T > C in exon 2, resulting in amino acid changed from tyrosine to histidine at codon 9. The novel aleles were identified and assigned the name HLA-A*24:233 and HLA-A*26:89 officialy by the WHO Nomenclature Committee.

Analysis and identification of a novel CD36 allele, 1142 T>G / 中国组织工程研究

BACKGROUND:As a main antigen of platelet, CD36 antigen is also known as platelet glycoprotein IV (GPIV). The mutation of CD36 gene may result in deficiency of the antigen. OBJECTIVE:To identify a novel CD36 alele. METHODS: DNA was isolated from peripheral blood sample, and 12 coding regions of CD36 gene were amplified by PCR. Sequencing-based typing was used to analyze the sequence of the target regions. The derived sequences were aligned with the standard sequence of NG_008192 in GenBank to identify the novel alele. RESULTS AND CONCLUSION: 1142 T>G mutation was detected in exon 12 of CD36 gene of the proband, and the other regions were consistent with the standard sequence. No data or report about 1142 T>G was found in GenBank or National Center for Biotechnology Information (NCBI), and thus it was reported to GenBank and received by number KM275213. 1142 T>G results in amino acid 381 Leu>Ser of the CD36 protein. There is a big difference in hydrophilia and polarity of the two amino acids. Also the 381 amino acid locates in highly conserved region. Thus it is speculated that 1142 T>G may reduce or vanish the activity of the protein.