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目的在前期工作定位的先天性心脏病(CHD)易感区域内,选取GLI1基因编码区内的1个已知单核苷酸多态(SNP):rs10783826,检测其在CHD新生儿和正常健康新生儿中的分布情况,分析其与CHD的相关性。方法采用病例对照研究,选择90名CHD新生儿(病例组)和90名健康新生儿(健康对照组)。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术进行GLI1基因rs10783826位点多态性检测,分析该多态位点基因型频率和等位基因频率在病例组和对照组的分布,比较该位点不同基因型与CHD患病风险的关系。应用SAS9.2软件进行统计学分析。结果GLI1基因的多态性位点rs10783826基因型频率和等位基因频率在病例组与对照组之间差异无统计学意义(χ~2=0.75,P=0.68),且等位基因T携带者与等位基因G携带者在患CHD的风险上差异无统计学意义(χ~2=1.40,P=0.23)。结论GLI1基因rs10783826多态性与CHD不存在相关性。该等位基因对先心病尚不构成影响。
OBJECTIVE: To identify a single nucleotide polymorphism (SNP) in the coding region of GLI1 gene, rs10783826, in CHD predisposing regions for early-stage work positioning and to determine its effect on neonatal CHD and normal health Neonatal distribution, analysis of its relevance to CHD. Methods A case-control study was conducted in 90 neonates with CHD (case group) and 90 healthy neonates (healthy control group). Polymorphism of rs10783826 in GLI1 gene was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The genotype frequency and allele frequency of GLI1 gene were analyzed in case group and control group Group distribution, comparison of different genotypes at this site and the risk of CHD. Application SAS9.2 software for statistical analysis. Results There was no significant difference in genotype frequencies and allele frequencies of rs10783826 polymorphism in GLI1 gene between the case group and the control group (χ ~ 2 = 0.75, P = 0.68), and allele T carriers There was no significant difference in the risk of CHD between patients with and without G allele (χ ~ 2 = 1.40, P = 0.23). Conclusion There is no correlation between polymorphism of rs10783826 in GLI1 gene and CHD. The allele does not affect congenital heart disease.