| Background and ObjectivesAutoimmune liver disease (AILD) is a non-viral liver disease which is more common in western countries and one of the major liver diseases that need carrying out liver transplantation. With the continual advancement and improvement of the laboratory diagnosis technology such as modern immunology and biochemistry, the detection rate of AILD in our population has increased in recent years. And it has been valued and concerned to national digestive disease researchers.AILD is a group of autoimmune diseases which is immune-mediated and damages the liver as target organ. It includes autoimmune hepatitis(AIH) which mainly has the characteristics of injured hepatocytes and serum significantly increased inflammatory markers of hepatocytes, and primary biliary cirrhosis(PBC) and primary sclerosing cholangitis(PSC) with the main bile duct disease and significantly increased cholestasis indexes, as well as overlap syndrome between any of three diseases. These types of diseases can be manifested as severe liver disease, and eventually progress to cirrhosis. As the etiology and pathogenesis are not well understood, currently no drugs can cure the disease. Many studies at home and abroad have shown that AILD is related to genetic susceptibility and molecular simulation mechanism.The human major histocompatibility complex(MHC) is called human leukocyte antigen(HLA) system, which genes about 3 600kb accounting for human genome 1/3 000 are located on the short arm of human chromosome 6,6p21.31. Its structure shows a high degree of heterogeneity, which has multiple genes and polymorphisms. A consensus had been reached that HLA was a genetic background of autoimmune liver disease.The information is little about genetic susceptibility to autoimmune liver disease at home and abroad. The findings of the different races in different regions are different. Urgently need to accumulate a large of amounts of data reveals the genetic characteristics of the disease. This study selects patients suffering from type 1 AIH or type 1 AIH-PBC overlap syndrome in Yu-Ji Hans, with healthy people as control. We explore the possible existence of susceptibility genes and haplotypes on the HLA-DRB1 and DQA1 locus about type 1 AIH or type 1 AIH-PBC overlap syndrome in Yu-Ji Hans. It maybe enrich Chinese genetic characteristics of type 1 AIH and type 1 AIH-PBC overlap syndrome, and provide the basis of theory for its pathogenesis, diagnosis and treatment.Methods and MaterialBasically typed on HLA-DRB1 and DQA1 alleles in 58 cases of type 1 AIH and 61 cases of type 1 AIH-PBC overlap syndrome and 50 normal controls with polymerase chain reaction-sequence-specific primers(PCR-SSP) technique. Analyze data on line with the SHEsis, and test each gene loci of each group with Hardy-Weinberg equilibrium. Then calculate the allele frequency and compare each other on the haplotypes. Compare each other on the allele frequencies, test levelα= 0.05. Absolute linkage disequilibrium(ALD) parameters:Δij=HF-PiPj[HF (haplotype frequency) is the observed haplotype frequency, Pi or Pj is respectively allele frequencies in a loci], maximal linkage disequilibrium(MLD) parameters:Δij (max)=Pi(1-Pj) (Δij≥0 and Pi |
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