| Objective:1.To investigate the molecular mechanism of the optic atrophy 1 (OPA1) gene of leprosy patients.2. To verify the association speculation between leprosy and OPA1 locus mutation in mitochondrial.3.To understand the effect between OPA1 and leprosy clinical phenotype, penetrance and expressivity, and provide theoretical basis for the search for new leprosy susceptibility gene.Methods:1. Collecting peripheral blood sample population of leprosy patients and normal crowd in Yuxi City Yunnan by whole cluster sampling.2.583 cases are in the control group, age range from 3-91 years,all samples have confirmed the history of leprosy, HIV and tuberculosis infections by collecting and testing.527 cases were leprosy group, patients age range from 17-98 years, of which 279 cases were type MB(including 109 cases of LL,145 cases BL and 25 cases of leprosy BB).248 cases were type PB(including 175 cases of TT and 73 cases of leprosy BT).3. Using a variety of biological analysis software to analyze OPA1 gene and the mitochondrial genome sequencing results, identifying polymorphisms and mutations sites, and analyzing its effects On mitochondrial function.4. Analyzing the relationship between mutations and mitochondrial OPA1 with leprosy genetic characteristics and clinical phenotypes.Results:1.SNP rs414237 showed leprosy itself (P= 0.004) significantly correlated, particularly with the LL subtype (P= 0.002) more relevant.2. There was a positive correlation between SNP, rs9838374 and the more bacteria leprosy (P= 0.006), the site also presents a more relevant and LL type of trend (P= 0.003).Conclusion:OPA1 mitochondrial gene expression levels of leprosy patients in the LL type is particularly significant, which indicating that the mitochondrial OPA1 in leprosy patients exit susceptibility. So mitochondria-related gene OPA1 has an important function in many ways of mitochondrial homeostasis, and also has a significant impact on the incidence of leprosy. |
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