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先天性心脏病体外受精儿童中的NKX2.5和TBX5基因突变

[NKX2.5 and TBX5 gene mutations in in vitro fertilization children with congenital heart disease].

作者信息

Yang Jing-Hui, Xu Xiao-Yan, Mi Hong-Ying, Jiang Yan, Ma Xin-Mei, Li Li

机构信息

Department of Pediatrics, First People's Hospital of Yunnan Province, Kunming 650032, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2017 Jun;19(6):652-657. doi: 10.7499/j.issn.1008-8830.2017.06.008.

Abstract

OBJECTIVE

To explore the differences of NKX2.5 and TBX5 gene mutations between in vitro fertilization (IVF) children with congenital heart disease (CHD) and naturally conceived children with CHD.

METHODS

Blood samples from 68 IVF children with CHD and 98 naturally conceived children with CHD were collected. The mutations in coding regions 1 and 2 of the NKX2.5 gene, and coding regions 4, 5, and 8 of the TBX5 gene were examined by polymerase chain reaction (PCR) and DNA sequencing.

RESULTS

An A-to-G mutation at nucleotide 63 (c.63A>G) in coding region 1 of the NKX2.5 gene was found in both IVF and naturally conceived children with CHD. There were no significant differences in genotype and allele frequencies at c.63A>G locus of the NKX2.5 gene between the two groups. No mutations were detected in coding region 2 of the NKX2.5 gene and coding regions 4, 5 and 8 of the TBX5 gene.

CONCLUSIONS

There is no difference in NKX2.5 and TBX5 gene mutations between IVF and naturally conceived children with CHD. Therefore, it is presumed that assisted reproductive technology may not lead to mutations in the NKX2.5 and TBX5 genes.

摘要

目的

探讨先天性心脏病(CHD)体外受精(IVF)儿童与自然受孕CHD儿童之间NKX2.5和TBX5基因突变的差异。

方法

收集68例IVF CHD儿童和98例自然受孕CHD儿童的血样。采用聚合酶链反应(PCR)和DNA测序检测NKX2.5基因编码区1和2以及TBX5基因编码区4、5和8的突变。

结果

在IVF CHD儿童和自然受孕CHD儿童中均发现NKX2.5基因编码区1第63位核苷酸(c.63A>G)发生A到G的突变。两组间NKX2.5基因c.63A>G位点的基因型和等位基因频率无显著差异。在NKX2.5基因编码区2以及TBX5基因编码区4、5和8未检测到突变。

结论

IVF CHD儿童与自然受孕CHD儿童在NKX2.5和TBX5基因突变方面无差异。因此,推测辅助生殖技术可能不会导致NKX2.5和TBX5基因发生突变。

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