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Objective:To explore the value of single nucleotide polymorphism for molecular warning of hypertensive intracerebral hemorrhage in Li Nationality in Hainan.Methods:Totally 56 patients with hypertensive intracerebral hemorrhage of Li Nationality in Hainan Province, 100 healthy controls of Li nationality and 203 healthy controls of Han nationality in Hainan Province from January 2019 to October 2020 were selected as the research subjects.After genomic DNA was extracted, rs2494739, rs2494744 and rs2498794 of AKT1 gene were genotyped and analyzed by SPSS 25.0 to explore the differences between Han and Li Nationality, and between Li healthy population and intracerebral hemorrhage population.Results:There was no difference in the frequencies of rs2498794, rs2494739 and rs2494744 polymorphisms of AKT1 gene among Han and Li healthy controls ( P>0.05). The rates of AA, AG and GG at rs2498794 locus in Li Nationality patients with intracerebral hemorrhage (14.28%, 39.29% and 46.43%) were significantly different from those of Li control group (44.00%, 47.00% and 9.00%)( P<0.05). The distribution rates of AA, AG and GG of rs2494744 in Li Nationlity patients with intracerebral hemorrhage were 57.14%, 37.50% and 5.36%, respectively, which were statistically significant compared with the control group (20.00%, 44.00% and 36.00%) ( P<0.05). The incidence of CC, CT and TT at rs2494739 locus in Hainan Li Nationality patients were 14.28%, 46.43% and 39.29% respectively, which were also significantly different from those in Li control group(34.00%, 41.00% and 25.00%) ( P<0.05). The incidence of rs2494744-A in intracerebral hemorrhage group (75.89%) was much higher than that in Li control group (42.00%), and the OR value of rs2494744-A was 4.35.The incidence of rs2498794-G in intracerebral hemorrhage group and control group were 66.07% and 32.50%, respectively, and the OR was 4.04.Alleles rs2494744-A and rs2498794-G were moderately associated with the incidence of intracerebral hemorrhage ( P<0.05). Conclusion:rs2494744-AA, rs2498794-GG and alleles rs2494744-A and rs2498794-G are the risk factors of HICH in Li nationality, which is of great value to the construction of its molecular early warning system.
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Objective:To investigate the association between rs2494739 polymorphism of the AKT1 gene and cerebral infarction in the Han and Li ethnic groups in Hainan.Methods:A total of 143 cases of cerebral infarction and 197 healthy controls from the Han ethnic group, and 93 cases of cerebral infarction and 75 healthy controls from the Li ethnic group were enrolled.Genomic DNA was collected from peripheral blood.Rs2494739 polymorphisms were detected with the Snapshot technology, and SPSS 25.0 was used for statistical analysis.Results:The CC, CT and TT genotypes of rs2494739 were found in both the Han and Li ethnic groups, and their frequencies of distribution were 19.6%, 51.7% and 28.7% in the Han cases and 20.3%, 51.8% and 27.9% in the Han controls, whereas the frequencies were 19.3%, 45.2% and 35.5% in the Li cases and 33.3%, 42.7% and 24.0% in the Li controls, conforming to the Hardy-Weinberg equilibrium( P>0.05). The detection rate of genotype CC in the Li healthy controls was significantly higher than that in the Han controls( P<0.05), while no statistical difference was found between the Han and Li cases( P>0.05). The codominance hereditary model showed rs2494739 polymorphisms were not associated with cerebral infarction in the Han and Li ethnic groups( P=0.981 and 0.081, respectively)in Hainan.Further analysis revealed that the distribution frequency of genotype CC in the Li control group was significantly higher than that in the Li patient group( P=0.039, OR=0.48, 95% CI: 0.237~0.970). The distribution frequency of the T allele in the cases was significantly higher than that in the controls( P=0.020, OR=1.67, 95% CI: 1.082-2.576). Conclusions:Healthy Han and healthy Li ethnic groups in Hainan show differences in polymorphisms of rs2494739, which are not associated with the occurrence and development of cerebral infarction in the Hainan Han population.The CC genotype is a protective factor for the Li ethnicity from cerebral infarction and the T allele may be a susceptibility factor for cerebral infarction for the Li ethnicity in Hainan.
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Objective:To investigate the early warning effect of two polymorphisms of AKT1 gene (rs1130214, rs2494744) on the risk of atherosclerotic cerebral infarction in Hainan province.Methods:In this study, totally 243 patients with atherosclerotic cerebral infarction who were hospitalized of Hainan Province from January 2019 to October 2020 were selected as the cerebral infarction group, including 148 Han nationality people and 95 Li nationality people. And 272 healthy people who received physical examination in the same hospital during the same period were selected as the control group, including 197 Han nationality people and 75 Li nationality people.All participants signed informed consent. The peripheral anticoagulant DNA was collected, and the genomic DNA was extracted and amplified by PCR.The genotypes of rs1130214 and rs2494744 were analyzed by mass spectrometry, and the distribution frequency of genotypes in cerebral infarction group and control group was analyzed by Chi-square test with SPSS 25.0 software.Results:Regardless of nationality, there was no significant difference in the distribution frequency of rs1130214 and rs2494744 of AKT1 gene between cerebral infarction group and control group (both P>0.05). The frequencies of AA, AG and GG genotypes of rs2494744 locus were 44.59%, 51.36% and 4.05% in the cerebral infarction group of Han nationality, while they were 47.21%, 42.13% and 10.66% in the control group of Han nationality, with significant difference between the two groups(χ 2=6.396, P<0.05). The independent effects of the three genotypes were analyzed by regression analysis. The results showed that GG genotype might be a resistance factor of cerebral infarction in Han population ( P=0.024, OR=0.354, 95% CI: 0.139-0.901). The frequency of AA, AG and GG genotypes of rs2494744 was 58 (61.05%), 25 (26.32%), 12 (12.63%) in the control group of Li nationality, and 28 (37.33%), 39 (52.00%), 8 (10.67%) in the control group of Li nationality. The results showed that the distribution of AA was significantly higher than that of the control group ( P<0.05, OR= 2.631, 95% CI=1.410-4.09), while AG was on the contrary ( P<0.05, OR=0.330, 95% CI=0.173-0.627). Conclusion:AA genotype of rs2494744 in AKT1 gene polymorphism is a risk factor for cerebral infarction in Li nationality group, which has potential early warning value for cerebral infarction in Hainan Li nationality group, while AG has protective effect on cerebrovascular health in Hainan Li nationality group.
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Objective To investigate the correlation between the deletion of exon 13 of hMSH2 mRNA in peripheral blood leu-kocyte and ISV12(-6) T>C polymorphism with sporadic colorectal cancer .Methods Total RNA and genomic DNA were extracted from peripheral blood of colorectal cancer patients and healthy controls .RT-PCR and PCR were used to amplified the mRNA and exon 13 of hMSH2 gene .The sequences of amplified hMSH2 cDNA ,ISV12(-6) T>C polymorphism and exon 13 sequence were confirmed by DNA sequencing .Results 23 of 23 (100% ) patients and 31 of 35 controls (88 .6% ,P>0 .05) were found to have an hMSH2 truncated transcript caused by a deletion of exon 13 .No deletions of exon 13 in hMSH2 gene were identified in genomic DNA .16 of 23 patients (69 .5% ) and 19 of 35 control (52 .3% ,P>0 .05) were found to have the T >C transition six bases up-stream of exon 13 of hMSH2 .Conclusion Deletion of hMSH2 mRNA exon 13 in peripheral blood leukocyte and the ISV12(-6) T>C polymorphism are common variants in population and have no correlation with sporadic colorectal cancer .The variant of splice site ISV12(-6)T>C is not a reason causing the deletion of hMSH2 mRNA exon 13 .
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ObjectiveTo explore the correlation between angiotensin converting enzyme (ACE) gene polymorphism and hypertension accompanying atherosclerosis in Li people in Hainan province. MethodsTwo hundred and sixty patients with hypertension accompanying atherosclerosis were selected as hypertension plus atherosclerosis group, while two hundred and seventy-six healthy people were regarded as healthy control group. ACE I/D gene polymorphism was detected by polymerase chain reaction (PCR), and the genotype frequencies and allele frequencies of DD, DI and Ⅱ were investigated. The carotid intimal-medial thickness(IMT)was measured by high-resolution ultrasound technique and mean IMT (MIMT) was calculated. Results(1) In the hypertension plus atherosclerosis group, the genotype frequencies of DD, DI and Ⅱ were 15.0%, 37.3%, 47.7%,respectively, and the allele frequencies of D and I were 33.70% and 66.30%, respectively. In the healthy control group, the genotype frequencies of DD, DI and Ⅱ were 17.8% , 40.6% and 41.7%,respectively, and the allele frequencies of D and I were 38.0% and 62.0%, respectively. There were no significant differences both in the genotype frequencies of DD, DI and Ⅱ, and in allele frequencies of D and I between the two groups (P>0. 05). (2) The age,total serum cholesterol(TC),triglyceride (TG), systolic pressure(SBP), diastolic pressure(DBP), apolipoprotein A(apoA) and apolipoprotein B (apoB) levels were significantly higher in the hypertension plus atherosclerosis group than in the control group(P<0. 05). The high density lipoprotein cholesterol(HDL-C) level was significantly lower in the hypertension plus atherosclerosis group than in the control group(P<0. 05). Logistic regression analysis showed that TG (OR = 2.14), apoA(OR = 360. 39), SBP(OR = 1.21), DBP (OR=1.08) and ACE DD genetype (OR = 0. 30) had correlation with hypertension plus atherosclerosis(all P<0. 05). The MIMT level was significantly higher in ACE DD subset than in DI and Ⅱ subset (P<0.05). ConclusionsThe ACE DD genotype increases the susceptibility of carotid atheroselerosis, which is the risk factor for hypertension accompanying atherosclerosis in Li people in Hainan province. It may be an early predictive factor in atherosclerosis.