| Objective:Single-nucleotide polymorphism(SNP)was the third generation of genetic markers,which had great advantages over the previous two generations of genetic markers,such as DNA fingerprints and short tandem repeats(STR),in the detection of degradation samples and mixed spot.Due to the biallelic nature,the degree of polymorphism of SNP was much lower than STR,and the collective application of multiple SNPs can achieve a recognition rate comparable to STR.SNP mutations located in the regulatory and coding regions of genes may cause changes in gene functions,and leading to the occurrence of some diseases.Schizophrenia was a complex disease that was caused by many factors.More and more evidence showed that genetic factors played an important role in schizophrenia,but the exact mechanism of this disease was still unclear.In the forensic psychiatric disease identification,the identification of schizophrenia was based on the clinical symptoms of psychiatric disease,and a comprehensive inspection and comprehensive analysis were performed to determine whether or not they had schizophrenia.Due to the lack of objective"biological indicators",the nature of the mental illness and its underlying mechanisms had not been fully understood,resulting in the diagnosis of mental illness being more influenced by personal subjective consciousness,the actual mental state of the person being identified was not truly and effectively reflect.The sulfotransferase family 4A1(SULT4A1)was a new type of sulfotransferase,which was highly selectively expressed in the brain and had a significant impact on the development of the nervous system.Studies had reported that the 5?UTR polymorphism of the SULT4A1 gene was significantly associated with the onset of schizophrenia,and SULT4A1-1 also had differences in the antipsychotic response of olanzapine.SULT4A1gene mutant mice also showed obvious psychiatric symptoms,there were also reports that the SULT4A1 gene was not associated with schizophrenia.At present,researches on the SULT4A1 gene polymorphism had mostly focused on white populations in North America,and there was no data on the Chinese population.So polymorphisms of the SULT4A1 gene promoter region of 715 bp(-548?+167)(ATG was+1),SNP rs2285162(C/A)in the first intron and SNP rs963263(G/A)in the 3?flanking region of gene in 259 patients with schizophrenia and 226 health controls of northern Han Chinese may provide alternative sites for forensic personal identification and paternity identification,and it may reveal the association between this gene and schizophrenia,and then provide a genetic basis for the identification of judicial mental illness.Methods:The genomic DNA of venous blood was extracted by phenol/chloroform method,and the DNA content and quality were detected by ultraviolet spectrophotometer.Each target fragment was amplified by PCR,and the PCR products were detected by 1%agarose gel electrophoresis.Sanger sequencing and polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP)were used to investigate the SULT4A1 gene promoter region of 715 bp(-548?+167)(ATG is+1),SNP rs2285162(C/A)in the first intron and SNP rs963263(G/A)in the 3?flanking region of gene(3?UTR)polymorphism distribution.After counting the number of SNP loci,Hardy-Weinberg equilibrium test,linkage disequilibrium analysis(LD),haplotype analysis and haplotype frequency calculation were performed by Haploview 4.2 software.SPSS 22 software was used to verify whether there were statistical differences in genotype frequency,allele frequency,and haplotype frequency between the case group and the control group by the?~2 test.Results:The SNP rs549267654(-55?-50DelGGCGCG)and a new 6 base(TGCGGG)insertion mutation site ss2137544034(-77?-72 Ins TGCGGG)were detected in the SULT4A1 gene promoter region.The allele distributions of SNPs rs549267654,rs2285162,and rs963263 in the control group were in accordance with Hardy–Weinberg equilibrium(P>0.05).The probability of discrimination power(DP)was 0.649,0.619,and 0.647,and the probability of paternity exclusion(PE)was 0.187,0.177,and 0.187,The locus ss2137544034 is closely linked to the rs549267654 locus(D'=1.0,r~2=0.397).The probability of discrimination power and the probability of paternity exclusion were 0.434and 0.17,respectively.The frequency distribution of SNP rs549267654,rs2285162,rs963263 and the new mutation site ss2137544034 genotype,allele and haplotype were not statistically significant between the case group and the control group(P>0.05).Conclusion:Rs549267654,rs2285162,and rs963263 had good genetic polymorphisms in the Han population in northern China and could be used for forensic personal identification and paternity identification.According to our data,there was no correlation between the SULT4A1 gene polymorphism and the incidence of schizophrenia in the Han population in northern China. |
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