CAJ | 학술논문

目的：探讨8q24 rs1530300单核苷酸多态性(SNP)与广东籍汉族人群非综合征性唇腭裂(NSCL/P)的相关性。方法：收集广东籍NSCL/P患儿168名及健康对照者127名的外周血，提取基因组DNA，应用高分辨率熔解曲线(HRM)技术检测rs1530300位点基因多态性，采用卡方检验进行病例组及其父母与正常对照组基因型、等位基因频率的比较分析和传递不平衡(TDT)分析。结果：成功建立8q24 rs1530300位点基因多态性检测方法。病例组及正常对照组8q24 rs1530300位点基因型频率分布均符合Hardy-Weinberg平衡。病例组及其父母的rs1530300位点基因型和等位基因的分布频率与正常对照组比较差异均无统计学意义(P均>0.05)，等位基因也不存在传递不平衡(P>0.05)。结论：8q24 rs1530300位点多态性与中国广东人群NSCL/P无明显相关性。
목적：탐토8q24 rs1530300단핵감산다태성(SNP)여엄동적한족인군비종합정성진악렬(NSCL/P)적상관성。방법：수집엄동적NSCL/P환인168명급건강대조자127명적외주혈，제취기인조DNA，응용고분변솔용해곡선(HRM)기술검측rs1530300위점기인다태성，채용잡방검험진행병례조급기부모여정상대조조기인형、등위기인빈솔적비교분석화전체불평형(TDT)분석。결과：성공건립8q24 rs1530300위점기인다태성검측방법。병례조급정상대조조8q24 rs1530300위점기인형빈솔분포균부합Hardy-Weinberg평형。병례조급기부모적rs1530300위점기인형화등위기인적분포빈솔여정상대조조비교차이균무통계학의의(P균>0.05)，등위기인야불존재전체불평형(P>0.05)。결론：8q24 rs1530300위점다태성여중국엄동인군NSCL/P무명현상관성。
OBJECTIVE: To explore the association between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphism of 8q24 rs1530300 in Chinese Han population located in Guangdong province. METHODS:Blood samples from 168 NSCL/P patients and 127 unrelated healthy individuals of the Chinese Guangdong population were collected. DNA was extracted and high resolution melting (HRM) was used to identify single nucleotide polymorphism of rs 1530300 in all samples. Chi square test was used to analyze the genotype and allele distribution between case group,father group,mother group and control group. Transmission-disequilibrium test was also carried out. RESULTS:The method for genotyping 8q24 rs1530300 was set up. The genotypic distribution of rs1530300 in case and control group did not deviate from the Hardy-Weinberg equilibrium. There were no significant differences in the frequency distributions of both genotypes and alleles when case group,or father group ,or mother group was compared with control group at the rs1530300 (P>0.05). We found no evidence of allele transmission-disequilibrium at rs1530300 in cleft case-parent trios(P>0.05). CONCLUSION:In our study,the genetic polymorphism of 8q24 rs1530300 was not associated with the development of NSCL/P in Chinese Han population located in Guangdong province.