Abstract：Objective: To analyze the relationship between TBX_ (20) gene polymorphism and congenital heart disease in newborns. Methods: 40 neonates with congenital heart disease from August 2016 to August 2018 were randomly selected as the study group, and 40 healthy children delivered during the same period in our hospital were selected as the control group. The distribution of rs3999950 locus genes in the two groups was analyzed. Results: The 260/280 values of the two groups were about 1.8 when the blood genomic DNA concentration was between 226 and 360ng/ml, which indicated that the extracted genomic DNA had good quality and could be used in PCR amplification. The size of the 5th exon of TBX_20 was 350 bp, which was the same as the TBX_20 gene corresponding to the designed primers. There was no non-specific band. The TBX_20 gene fragments obtained after digestion of restriction enzymes by XbaI and EcoRI are similar to theoretical predictions. The success rate of DNA sample acquisition was more than 99% in both groups. Comparing the sequence and sequencing results of TBX_20 gene obtained from NCBI database, it was found that both of them had the same PCR product, and the sequence homology reached 99.4%. The results showed that the distribution of TBX_20 SNP was consistent with Hardy-Weinberg genetic equilibrium. The SNP locus of TBX_20 gene was rs3999950:c.774T＞C (Ala265Ala). Hardy-Weinberg genetic balance test was carried out to evaluate the population representativeness. The distribution of TBX_20 SNP was consistent with Hardy-Weinberg genetic balance. The frequency of TC genotype at rs3999950 locus in the study group was significantly higher than that in the control group (P＜0.05), The difference of C gene locus between the two groups was also statistically significant (P＜0.05). TC genotype OR＞1 increased the incidence of congenital heart disease. Conclusion: The SNP of TBX (20) gene rs3999950 may be closely related to the occurrence of neonatal congenital heart disease, which deserves clinical attention.
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2020, Vol. 26 
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