IRF6和RARA基因多态性与非综合征性唇腭裂的相关性研究

目的探讨干扰素调节因子-6(IRF6)基因rs2235371位点和视黄酸受体-α(RARA)基因rs2229773位点单核苷酸多态性(SNP)与非综合征性唇腭裂的关系,以及2个位点在患者和健康者之间的基因型和等位基因型频率差异。方法选取153例非综合征性唇腭裂(NSCL/P)患者作为NSCL/P组,体检健康者150例作为健康对照组。运用聚合酶链式反应-限制性片段长度多态性(PCR-RELF)技术,分析IRF6、RARA基因的多态性,比较2组研究对象基因型和等位基因型频率差异。结果 IRF6基因rs2235371位点基因型CC、TT和等位基因C、T频率在NSCL/P组和健康对照组的分布,差异有统计学意义(P0.05),NSCL/P组等位基因C频率高于健康对照组,差异有统计学意义(P0.05)。RARA基因rs2229773位点基因型CT、TT频率在NSCL/P组和健康对照组的分布,差异有统计学意义(P0.05),NSCL/P组基因型为CT杂合子,显著多于健康对照组,差异有统计学意义(P0.05)。结论 NSCL/P与IRF6基因rs2235371位点等位基因C及RARA基因rs2229773位点CT基因型具有相关性。

Correlation study between the IRF6,RARA Gene polymorphism and non-syndromic cleft Lip with or without cleft palate

Objective To study the relationship between single nucleotide polymorphisms of IRF6 gene (rs2235371) ,RARA Gene (rs2229773) and NSCL/P ,and explore the differences of the genotype and allele frequency between patients and healthy people .Methods 153 NSCL /P patients were selected as NSCL/P group ,while 150 healthy people without NSCL /P were selected as control group .PCR‐RELF technique was used to analyze IRF6 , RARA gene polymorphism ,a case‐control study was conducted to analyze frequencies of genotypes and allele between the two groups .Results Among the NSCL /P group and control group ,there were statistically significant differences in frequencies of CC ,TT genotype ,allele C and allele T of rs2235371 locus of IRF6 gene (P< 0 .05) ,frequencies of allele C in NSCL/P group was much higher than in control group(P< 0 .05) .There were also statistically significant differences in frequencies of CT ,TT genotype of rs2229773 locus of RARA gene between the NSCL/P group and control group (P< 0 .05) ,heterozygotes of CT genotype in NSCL /P group were more than that in control group(P<0 .05) .Conclusion There are correlations between allele C of rs2235371 locus of IRF6 ,CT genotype of rs2229773 lo‐cus of RARA and NSCL /P .