Objective To investigate the relationship between hereditary deafness and SLC26A4 gene IVS16+10C>T mutation.Methods One hundred and two patients with hereditary deafness admitted to the Third Affiliated Hospital of Qiqihar Medical College from January 2014 to May 2016 were enrolled and assigned as the observation group, and another 102 cases with normal hearing were selected as the control group. The gene mutation types and hearing thresholds were detected in the two groups and compared between them, the mutations of alleles 1 and 2 situations of patients with GJB2 and SLC26A4 mutations were analyzed, Ab initio software was used to predict whether there was obstacle preventing the recognition on slice sites, and polymerase chain reaction (PCR) was adopted to detect the common mutation types of SLC26A4 gene.Results In 102 patients with hereditary deafness, the cases caused by SLC26A4 gene mutations were more than those caused by GJB2 gene mutations (30 cases vs. 15 cases). Compared with the normal hearing control group, the mutation rates of GJB2 and SLC26A4 genes were significantly increased in the observation group [GJB2: 14.71% (15/102) vs. 2.94% (3/102), SLC26A4: 29.41% (30/102) vs. 1.96%(2/102), bothP <0.01], and there was a tendency that the percentages of GJB2 and SLC26A4 mutations were increased (GJB2: 0.98%, 1.96%, 4.90%, 6.86%, SLC26A4: 4.90%, 6.86%, 7.84%, 9.80%) with the increase of the severity of deafness (mild—moderate—severe—extreme severe) in the observation group. Compared with the control group, the hearing threshold was significantly increased (dB: 67.83±8.96 vs. 10.43±2.89,P < 0.01), and along with the increase of deafness severity (mild—moderate—severe—extreme severe), the hearing threshold (dB) was increased (34.96±4.98, 58.42±10.61, 83.96±12.17, 96.77±11.42, respectively) in the observation group. Thirty patients with SLC26A4 gene did not show any IVS16+10C>T mutation, indicating that IVS16+10C>T gene mutation was not the cause of genetic deafness.Conclusion There is no obvious relationship between the IVS16+10C>T mutation of SLC26A4 gene and patients with hereditary deafness, which may provide a basis clinically for the prediction of deafness occurrence in the patient's next generation.

Objective:To analyze the association between the rs562556 polymorphism of the proprotein convertase subtilisin/kexin type 9(PCSK9)gene and the degree of coronary artery stenosis in the patients with acute myocardial infarction(AMI).Methods:A total of 200 patients diagnosed with AMI from January 2021 to December 2022 were selected as AMI group,and 200 healthy individuals during the same period were selected as control group.According to the Gensini scoring standard,the patients in AMI group were divided into low risk group(Gensini score≤40,n=78)and medium-high risk group(Gensini score>40,n=122).The levels of lipid metabolism indicators in serum of the patients in two groups were detected by fully automatic biochemical analyzer;enzyme linked immunosorbent assay(ELISA)method was used to detect the PCSK9 levels in serum of the patients in two groups;ultraviolet spectrophotometry was used to detect the single nucleotide polymorphism(SNP)of PCSK9 gene of the patients in two groups;Spearman correlation analysis was used to detect the correlation between the rs562556 polymorphism of the PCSK9 gene and the degree of the disease and the levels of lipid metabolism indicators in serum of the patients.Results:Compared with control group,the percentage of smokers of the patients in AMI group was significantly increased(P<0.01).Compared with control group,the levels of low-density lipoprotein cholesterol(LDL-c)and PCSK9 in serum of the patients in AMI group were significantly increased(P<0.05).Compared with low risk group,the levels of LDL-c and PCSK9 in serum of the patients in medium-high risk group were significantly increased(P<0.05).The distribution of PCSK9 gene rs1800487 genotype in both control and AMI groups conformed to the Hardy-Weinberg(H-W)equilibrium(χ2=0.677,P=0.713;χ2=0.970,P=0.831).Compared with control group,the distribution frequencies of PCSK9 gene rs562556 genotype AA and allele A of the patients in AMI group were significantly increased(P<0.05).In the AMI patients,the distribution of PCSK9 gene rs562556 genotype in both low risk and medium-high risk groups conformed to the H-W equilibrium(χ2=0.045,P=0.978;χ2=1.290,P=0.525).Compared with low risk group,the distribution frequencies of genotype AA and allele A of PCSK9 gene rs562556 of the patients in medium-high risk group were significantly increased(P<0.05).The PCSK9 gene rs562556 genotype AA was positively correlated with the degree of AMI(r=0.193,P=0.006)and LDL-c level(r=0.301,P<0.01).Allele A was positively correlated with the LDL-c level(r=0.168,P=0.017).Conclusion:The PCSK9 gene rs562556 genotype AA is positively correlated with the degree of coronary artery stenosis of the AMI patients,and its polymorphism may promote the development of AMI by upregulating the LDL-c level.