CAJ | 학술논문

目的采用高分辨率熔解曲线(HRM)方法检测痛风患者SLC22A12基因intron5(+4668C/T)单核苷酸多态性(SNP),并分析该多态性与高尿酸血症患者临床特征的相关性.方法选取101例原发性痛风患者和186名健康志愿者,分别记录血压、体质量指数,榆测血尿酸、血糖、血脂、肌酐水平,提取外周血DNA,扩增SLC22A12基因5号内含子片段,并采用HRM技术分析其多态性,并用测序法证实,临床数据和基1月型的关系采用方差分析.结果 ①成功地在SLC22A12基因5号内含子内发现一新的SNP位点,命名为intron5(+4668C/T).HRM技术检测能准确区分CC、CT和TT基因型,其结果与测序法一致.②3种基因型在男性、女性个体中的分布分别为:28.1%、33.7%、38.2%;20.0%、47.1%、32.9%.③无论在男性组内还是女性组内,体质量、血压、肌酐、总胆固醇和甘油三酯中各基因型分布差异均无统计学意义,但各组内CC基因型的尿酸水平明显高于CT+TT基因型的尿酸水平.④低尿酸组内CC基因型和CT+TT基因型频率与高尿酸组相比,差异有统计学意义(21.2%,78.8%,35.0%,65.0%;p<0.05).结论建立了对SLC22A12基因5号内含子新的SNP位点简单、快速和精确的分析方法;推测intron5(+4668C/T)中T等位基因可能为中国人高尿酸血症的遗传保护因子.
목적 채용고분변솔용해곡선(HRM)방법검측통풍환자SLC22A12기인intron5(+4668C/T)단핵감산다태성(SNP),병분석해다태성여고뇨산혈증환자림상특정적상관성.방법 선취101례원발성통풍환자화186명건강지원자,분별기록혈압、체질량지수,유측혈뇨산、혈당、혈지、기항수평,제취외주혈DNA,확증SLC22A12기인5호내함자편단,병채용HRM기술분석기다태성,병용측서법증실,림상수거화기1월형적관계채용방차분석.결과 ①성공지재SLC22A12기인5호내함자내발현일신적SNP위점,명명위intron5(+4668C/T).HRM기술검측능준학구분CC、CT화TT기인형,기결과여측서법일치.②3충기인형재남성、녀성개체중적분포분별위:28.1%、33.7%、38.2%;20.0%、47.1%、32.9%.③무론재남성조내환시녀성조내,체질량、혈압、기항、총담고순화감유삼지중각기인형분포차이균무통계학의의,단각조내CC기인형적뇨산수평명현고우CT+TT기인형적뇨산수평.④저뇨산조내CC기인형화CT+TT기인형빈솔여고뇨산조상비,차이유통계학의의(21.2%,78.8%,35.0%,65.0%;p<0.05).결론 건립료대SLC22A12기인5호내함자신적SNP위점간단、쾌속화정학적분석방법;추측intron5(+4668C/T)중T등위기인가능위중국인고뇨산혈증적유전보호인자.
Objective To investigate a new single nucleotid polymorphism (SNP) intron5(+4668C/T) in SLC22A12 in primary gout patients and the association between clinical characteristics and genotypes. Methods One hundred and one primary gout patients and 186 healthy subjects were recruited into this study. Blood pressure, body mass index (BMI) was recorded. Serum uric acid, glucose, lipid and creatinine were detected. DNA was extracted from peripheral blood to amplify the fragment located in intron 5. The genotypes of SLC22A12 can be detected with high-resolution melting (HRM) assay, followed by sequencing analysis. Chi-square test was used for statistical analysis. Results ① A new SNP in intron 5 of SLC22A12 was identi-fied successfully by HRM, which was defined as intron 5 (+4668C/T). CC, CT and TT genotypes were unam-biguously distinguished with HRM technology, which was fully concordant with sequencing. ②The genotypes of CC, CT and TT in male and female groups were 28.1%, 33.7%, 38.2% and 20.0%, 47.1%, 32.9%, respectively.③ However, no significant differences of genotype distribution were found concerning BMI, blood pressure, creatinine, total cholesterol and triglyceride in both male group and female group. But the serum uric acid levels in the CC genotype were significantly higher than those with the CT+TT genotypes. ④ The genotype frequencies of CC and CT+TT in high uric acid group were remarkably different from those in low uric acid group (21.2%, 78.8%,; 35.0%, 65.0%; P<0.05). Conclusion A new SNP has been successfully discovered with HRM technology with simplicity, rapidity and accuracy. T allele of intron 5 (+4668C/T) may be a genetic protective factor for hyperuricemia among Chinese population.