ABSTRACT
Objective To investigate the sequence variations of mitochondrial D-loop region in chronic glomerular nephritis patients and family members and their possible associations with chronic glomerular nephritis.Methods 20 patients with chronic glomerular nephritis and 48 unaffected pedigree members,as well as 122 cases of normal control were recruited.mtDNA extracted from peripheral blood were examined by PCR-based assay for D-loop sequence variations,followed by sequencing analysis.Results Compared with the normal control and standard sequence,a total of 61 sequence variants were detected,among these,three high variations were found,and the base variation rate of patients with chronic glomerular nephritis(CGN)and unaffected pedigree members(UAPM)(0.88%,0.72%)significantly increased compared with the control group(0.61%).The distibutional difference of base variation rate in the experimental groups were significantly higher than those in the control group(x2=21.220,7.964,all P<0.05).Especially in microsatellite variation in D310 region,the mutation frequency and base variation rate in patients with CGN were 100.00% and 30.00%,respectively,which of UAPM were 81.30% and 17.95%,respectively,while those in the normal control group were 53.30% and 6.05%,respectively.Among them,the patients with CGN compared with the control group had statistically significant differences(x2=15.610,150.047,all P<0.05).Likewise,UAPM also had statistically significant difference compared with the control group(x2=11.347,66.188,all P<0.05).Conclusion D-Loop of mitochondrial genome mutations may be related to the development of chronic glomerular nephritis.