The gene complex of Human Leukocyte Antigen (HLA) is located of chromosome 6p21, which is the most complicated dominant polymorphic genetic system. The HLA system has 108 genotypes. It is the best human genetic marker. It has been applied to forensic paternity test and individual identification. This article discusses the research development of HLA polymorphism and its application in forensic medicine.
Forensic Medicine ; Gene Frequency ; HLA Antigens/genetics* ; HLA-A3 Antigen/genetics* ; Humans ; Polymorphism, Genetic

OBJECTIVE: To investigate the association of molecular genetic polymorphism of KIR-HLA systems with acute lymphoblastic leukemia (ALL) and acute myelocytic leukemia (AML) in southern Chinese Han. METHODS: A total number of 323 cases of adult ALL patients, 350 adult AML, and 745 random healthy controls were tested by KIR PCR-SSP and HLA-A, -B, -C sequence-based typing (PCR-SBT) methods. The molecular genetic polymorphisms of KIR genes and KIR gene profiles, classⅠ HLA ligands, and KIR receptor +HLA ligand combinations were compared between patient and healthy control groups. RESULTS: A total number of 32 and 33 different kinds of KIR profiles were identified in the ALL and AML patient groups. Compared with the observed frequencies of KIR profiles in healthy controls, the observed frequencies of KIR profile AA1 were significantly lower in both the ALL and AML groups (ALL group: 45.79% vs. 55.30%, Pc=0.004; AML group: 48.27% vs. 55.30%, Pc=0.030). In the ALL group, the observed frequencies of 2DL2 gene and 2DL2+HLA-C1 combination, 2DS2 gene and 2DS2+HLA-C1 combination were significantly higher than those in healthy controls (P<0.05), whereas the frequencies of 2DL3 gene, HLA-A3/A11 ligand and 3DL2+HLA-A3/A11 combination were significantly lower than those in healthy controls. However, no significant differences remained after Bonferroni correction (Pc>0.05). In AML group, the observed frequencies of both 2DS1 and 2DL5 genes were significantly higher than that in healthy controls, whereas the frequencies of HLA-C2 ligand and 2DL1+HLA-C2 combination were significantly lower than that in healthy controls(P<0.05). However, no significant difference existed after Bonferroni correction (Pc>0.05). CONCLUSION This study revealed some potential susceptibility or protective factors related to acute leukemia in southern Chinese Han, especially the protective factor KIR profile AA1, which might provide new clues and theoretical basis for the pathogenesis of acute leukemia and individualized immunotherapy.
Adult ; China ; Gene Frequency ; Genotype ; HLA-A3 Antigen/genetics* ; Humans ; Leukemia, Myeloid, Acute/genetics* ; Ligands ; Polymorphism, Genetic ; Receptors, KIR/genetics*

OBJECTIVETo investigate the relationship between pemphigus vulgaris (PV) and human leukocyte antigen (HLA) in Han nation of northeast China.

METHODSStandard microcytotoxicity test and polymerase chain reaction-sequence specific primers method were used to detect the HLA class I antigens and HLA-DRB1 and DQB1 alleles in 27 patients with PV and results were compared with control group.

RESULTSGene and phenotype frequencies of HLA-A3, A26(10), B60(40), and B13 (27.99%, 48%; 16.11%, 30%; 23.02%, 41%; 16.11%, 30%, respectively) increased significantly in PV group compared with control (1.01%, 2%; 0.5%, 1%; 4.61%, 9%; 5.13%, 10%, respectively). After P value correction, the difference of A3, A26 (10), and B60 (40) between the two groups was still significant. The gene frequencies of HLA-DRB1*140x (1401, 1404, 1405, 1407, 1408), DRB1*120x, and DQB1*0503 alleles in PV group (42.26%, 25.46%, and 23.02%) were significantly higher than control group (5.09%, 7.74%, and 1.89%). After P value correction, the difference was still significant between the two groups.

CONCLUSIONPV significantly relates with HLA in PV patients of Han nation of northeast China.

Adult ; Aged ; Asian Continental Ancestry Group ; ethnology ; China ; ethnology ; Female ; Gene Frequency ; HLA-A Antigens ; genetics ; HLA-A3 Antigen ; genetics ; HLA-B Antigens ; genetics ; HLA-DQ Antigens ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Male ; Middle Aged ; Pemphigus ; genetics ; Phenotype