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（P＜0．05），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（P＜0．05）。 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（P＜0．05），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（P＜0．05）。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。%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 .
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