知搜-全球专利检索

  1. 登录
  2. 注册
发明公开
CN105349627A 中国儿童矮小症易感基因SNP分型用试剂盒及其使用方法 无效 - 驳回

中国儿童矮小症易感基因SNP分型用试剂盒及其使用方法
摘要：
本发明涉及一种中国儿童矮小症易感基因SNP分型用试剂盒及其使用方法，具体公开了一种针对中国儿童8个矮小症易感基因12个SNP位点的同时定性分型试剂盒及其使用方法，以SPAG17基因rs17038182位点、KBTBD基因rs1378850位点、HHIP基因rs1812175位点、HIST1H1D基因rs10946808位点、ACAN基因rs8041863位点、GHR基因rs6182位点、GHR基因rs6184位点、GHR基因rs4410646位点、GHR基因rs12515480位点、GHR基因rs2940913位点、IGF-1R基因rs1976667位点和IHH基因rs3099位点为检测对象，针对每个SNP位点的突变分别设计出扩增引物和延伸引物，针对12个SNP位点进行多重PCR扩增和标记延伸，通过毛细管电泳分析，同时获得12个SNP位点的基因型。本发明的SNP分型试剂盒使用方便，操作简单，成本低，通量高，检测结果直接可靠，适用于中国儿童矮小症易感基因SNP分型的大规模筛查。
摘要（英）：

The invention relates to a kit for SNP genotyping of Chinese children short stature susceptibilty genes and a utilization method of the kit and particularly discloses a simultaneous qualitative and genotyping kit aiming at 12 SNP loci of 8 short stature susceptibilty genes of Chinese children and a utilization method of the simultaneous qualitative and genotyping kit. The method includes: taking a rs17038182 locus of an SPAG17 gene, a rs1378850 locus of a KBTBD gene, a rs1812175 locus of an HHIP gene, a rs10946808 locus of an HIST1H1D gene, a rs8041863 locus of an ACAN gene, a rs6182 locus of a GHR gene, a rs6184 locus of the GHR gene, a rs4410646 locus of the GHR gene, a rs12515480 locus of the GHR gene, a rs2940913 locus of the GHR gene, a rs1976667 locus of an IGF-1R gene and a rs3099 locus of an IHH gene as detection objects, respectively designing amplification primers and extension primers aiming at mutation of each SNP locus, performing multiplex PCR amplification and mark extension aiming at the 12 SNP loci, and performing capillary electrophoresis analysis to obtain genotypes of the 12 SNP loci at the same time. The kit for SNP genotyping has the advantages of convenience in use, simplicity in operation, low cost, high flux, directness and reliability of detection results and applicability to large-scale screening of SNP genotyping of the Chinese children short stature susceptibilty genes.

0/0