Discovery of Human Leukocyte Antigen HLA-A/C Gene Recombination / 现代检验医学杂志

Objective To investigate the recombination events occurring between HLA-A and-C loci discovered in two Chi-nese families.Methods HLA class I (HLA-A and-B)and II (HLA-DRB1)alleles low resolution typing were typed by pol-ymerase chain reaction-sequence specific oligonucleotide,(PCR-SSO)and PCR-sequence specific primer (PCR-SSP).HLA class I and II high resolution typing was done by sequencing-based typing (SBT).Then the recombination sites were ana-lyzed by family study.Results The results indicates that the recombination events occurred in one family between A*30∶01/32∶01-C*06∶02 and another family between A*11∶01/26∶01-C*07∶06 during meiosis.The recombination both came from fathers and resulted in new HLA haplotypes that were inherited by the children.Conclusion Two HLA-A/C re-combination events occurring between HLA-A and-C loci have been found in two Chinese families,which help further study the mechanisms of HLA recombination.

The relationship between silicosis and the polymorphism of HLA-DRB1 *, DQB1 * genes / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To investigate the relation between the susceptibility to silicosis and the polymorphism of HLA-DRB1 *, DQB1 * genes in Chinese Hans.</p><p><b>METHODS</b>HLA-DRB1 * and DQB1 * gene polymorphism were tested in 48 silicosis patients and 100 normal controls by using polymerase chain reaction of sequence-specific primers (PCR-SSP).</p><p><b>RESULTS</b>The allele frequencies of DRB1 * 1401 and DQB1 * 05 in silicosis patients were significantly higher than those in normal controls (chi 2 = 5.61, P = 0.0066, RR = 17.40; chi 2 = 10.70, P = 0.0011, RR = 3.81, respectively), while the allele frequency of DRB1 * 09 was significantly lower in silicosis patients than that in controls (chi 2 = 5.70, P = 0.0187, RR = 0.21). There was a significant difference between the patient group and control group.</p><p><b>CONCLUSION</b>HLA-DRB1 * 1401 and DQB1 * 05 may be the susceptible genes and HLA-DRB1 * 09 the protection gene of silicosis, both susceptibility and protection may be related to HLA-DR gene locus. The joint action of allele genes may affect the pathogenesis of silicosis.</p>

Identification and sequence analysis of a novel allele HLA-B~* 9537 / 中国输血杂志

Tin Exon3,resulting in 4 amino acid changed from Glu to Asp(E103D),Thr to Lys(T113K),Gln to Glu(Q114E) and Ser to Phe(S116F),respectively.Conclusion The novel allelewas identified,and was assigned the name B*9537 officially by the WHO Nomenclature Committee.

Identification of a novel HLA class Ⅰ allele,B~*1316 / 中国输血杂志

Objective To analyze the nucleotide sequences of novel HLA class I le,B*1316.Methods Routine sequence-specific oligonucleotide(SSO) typing and sequencing based typing(SBT) was used.Results The B*1316 allele differs from B*1302 by one nucleotide substitution in exon 3: T to A at nt position 184,which results in an amino acid substitution at codon 62 from Val to Glu.Conclusion A novel HLA class I allele,B*1316 has been identified,and was officially recognized by WHO Nomenclature Committee in April 2006.