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目的研究与遗传性骨性反畸形发生相关的基因,为阐明其分子遗传机制奠定理论和实验基础。方法利用表达序列标签克隆策略选择了1个可能与遗传性骨性反颌畸形相关的候选基因——OTX1。采用PCR扩增后直接测序的方法筛查该基因的编码区突变和单核苷酸多态性(SNPs)位点的分布情况;应用SPSS13.0软件进行χ2检验,检测SNPs在病例组和正常对照组中的Hardy-Weinberg平衡情况,并分析SNPs位点与遗传性骨性反颌的相关性。结果病例组和对照组均未检测到OTX1基因外显子突变;rs17850223CG基因型频率在病例组和对照组间有统计学意义(P<0.05)。结论 OTX1基因SNPs和遗传性骨性反相关,OTX1基因可能是遗传性骨性反的易感基因。
Objective To study the gene related to the genesis of hereditary osteodysplasia and lay a theoretical and experimental basis for elucidating its molecular genetic mechanism. Methods One candidate gene associated with hereditary skeletal anti-maxillary deformity (OTX1) was selected by using expression sequence tagging strategy. The PCR-amplified direct sequencing method was used to screen the coding region mutations and single nucleotide polymorphisms (SNPs) of the gene. The SPSS 13.0 software was used to detect the χ2 test to detect SNPs in the cases and normal Hardy-Weinberg balance in the control group and analyze the association of SNPs with hereditary skeletal anti-jaw. Results No exon mutations of OTX1 gene were detected in cases and controls. The rs17850223CG genotype frequency was significantly different between the case group and the control group (P <0.05). Conclusion OTX1 gene SNPs are associated with hereditary bodily anti-, and OTX1 gene may be a susceptible gene to hereditary biliary anti-.