广东地区人群MAFB基因rs13041247位点单核苷酸多态性与非综合征性唇腭裂发病的关系

发布时间：2018-05-10 05:40

本文选题：非综合征性唇腭裂 + MAFB基因　；参考：《山东医药》2017年35期

【摘要】：目的探讨MAFB基因rs13041247位点单核苷酸多态性与广东人群非综合征性唇腭裂(NSCL/P)发病的相关性。方法收集162例广东地区NSCL/P患者为病例组,178例广东地区健康对照者为对照组,用Taq Man探针和实时荧光定量PCR法检测两组受检者MAFB基因rs13041247位点单核苷酸多态性,并比较两组等位基因和基因型分布。结果病例组和对照组的基因型、等位基因频率分布均符合Hardy-Weinberg平衡。病例组等位基因T频数169(52.16%)、等位基因C频数155(47.84%),对照组分别为227(63.76%)、129(36.24%)。两组等位基因频率比较,P0.05。病例组基因型TT者50例(30.86%)、TC者69例(42.59%)、CC者43例(26.54%),对照组分别为71例(39.89%)、85例(47.75%)、22例(12.36%),两组基因型分布相比P0.05。结论 MAFB基因rs13041247位点单核苷酸多态性与广东地区NSCL/P发病相关。
[Abstract]:Objective to investigate the association of single nucleotide polymorphisms (SNP) at rs13041247 locus of MAFB gene with non-syndromic cleft lip and palate (NSCL / P) in Guangdong population. Methods single nucleotide polymorphisms of rs13041247 locus of MAFB gene were detected by Taq Man probe and real-time fluorescence quantitative PCR in 162 NSCL/P patients in Guangdong area as case group and 178 healthy controls in Guangdong area as control group. The distribution of alleles and genotypes were compared between the two groups. Results the distribution of genotype and allele frequency in the case group and the control group were in accordance with the Hardy-Weinberg equilibrium. The T frequency of alleles in the case group was 169 / 52.160.The allele C frequency was 155 / 47.84g / L, respectively, and that in the control group was 227.63.76 / 129C / 36.24g / L, respectively. Comparison of allelic frequencies between the two groups (P 0.05). In the case group, TT was found in 50 cases and TC in 69 cases (42.59%) and CC in 43 cases (26.54%), while in the control group there were 71 cases (39.89%) and 85 cases (47.7575%), 22 cases (P 0.05). The genotype distribution of the two groups was higher than that of the control group (P 0.05). Conclusion the single nucleotide polymorphism of rs13041247 locus of MAFB gene is associated with the onset of NSCL/P in Guangdong.
【作者单位】：广东省妇幼保健院;
【基金】：广东省医学科研基金项目(B2014021)
【分类号】：R782.2

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