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目的研究CAPS(calcyphsine)基因单核苷酸多态性(singlenucleotidepolymorphisms,SNPs)位点与家族性热性惊厥(febrileseizures,FS)的关系。方法通过NCBI的dbSNP数据库选择CAPS基因的2个单核苷酸多态性位点,应用聚合酶链式反应—限制性内切酶长度多态性技术,检测54例家族性热性惊厥患儿和90名健康对照者的CAPS基因2个SNPs位点的基因型,用SPSS软件判定个单核苷酸多态性基因型频率分布是否符合Hardy-Weinberg平衡,SNPs基因型频率和基因频率在正常人和患儿中的分布比较用R×C和2×2表χ2检验并经连续性校正。结果位点rs7249419的基因型频率符合Hardy-Weinberg平衡,但是它的最小等位基因频率不足1%,其基因型频率和等位基因频率在正常人和患儿间的分布无显著性差异(P>0·05)。位点rs11437855只有1种基因型,均为无插入的纯合子。结论CAPS基因SNPrs7249419、rs11437855可能与家族性热性惊厥无关。
Objective To study the relationship between single nucleotide polymorphisms (SNPs) of CAPS and febrile seizures (FS). Methods Two single nucleotide polymorphisms (SNPs) of CAPS gene were selected from the dbSNP database of NCBI. Polymerase chain reaction-restriction endonuclease length polymorphism (PCR-RFLP) was used to detect 54 cases of familial febrile seizures And 90 healthy controls were used to determine the genotypes of two SNPs in the CAPS gene. SPSS software was used to determine whether the single nucleotide polymorphism (SNP) genotype frequency distribution conformed to the Hardy-Weinberg equilibrium. The SNPs genotype frequency and gene frequency were normal The distribution in humans and children was compared using χ2 test with R × C and 2 × 2 tables and corrected for continuity. Results The genotype frequency of rs7249419 was in accordance with Hardy-Weinberg equilibrium, but its allele frequency was less than 1%. There was no significant difference in genotype frequency and allele frequency between normal subjects and children (P > 0 · 05). Site rs11437855 only one genotype, are non-inserted homozygotes. Conclusion CAPS gene SNP rs7249419, rs11437855 may not be associated with familial febrile seizures.