广东人群8q24 rs1530300单核苷酸多态性与非综合征性唇腭裂的相关性研究  

Association of a single nucleotide polymorphism in 8q24 rs1530300 and nonsyndromic cleft lip with or without cleft palate in Guangdong

作　　者：马靖[1] 许铭炎 刘庭英[1] 傅玉才[1] 邓小玲[3] 

机构地区：[1]汕头大学医学院细胞衰老实验室,广东汕头515041 [2]厦门市口腔医院,福建厦门361003 [3]厦门大学医学院基础医学部,福建厦门361000

出　　处：《癌变．畸变．突变》2014年第2期131-134,139,共5页Carcinogenesis,Teratogenesis & Mutagenesis

基　　金："重生行动-全国贫困家庭唇腭裂儿童手术康复计划"项目

摘　　要：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HardyWeinberg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。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.

关 键 词：非综合征性唇腭裂 单核苷酸多态性 8q24rs1530300 高分辨率熔解 

分 类 号：R394.3[医药卫生—医学遗传学]