NKX2.5基因和TBX5基因在先天性心脏病试管婴儿中的突变检测

发布时间：2018-04-15 09:09

  本文选题：先天性心脏病 + NKX.基因　； 参考：《中国当代儿科杂志》2017年06期

【摘要】：目的探讨患先天性心脏病的试管婴儿与自然受孕儿间是否存在NKX2.5基因和TBX5基因突变差异。方法应用聚合酶链反应结合DNA测序技术,对68例试管婴儿先天性心脏病患儿和98例自然受孕先天性心脏病患儿的NKX2.5基因编码区1、2和TBX5基因编码区4、5、8进行突变检测。结果在患先天性心脏病的试管婴儿与自然受孕儿中,均发现NKX2.5基因编码区1中第63位碱基发生突变(c.63AG),该位点基因型及等位基因频率的分布在两组间差异无统计学意义。NKX2.5基因编码区2和TBX5基因编码区4、5、8未检测到突变。结论先天性心脏病的试管婴儿与自然受孕儿间NKX2.5基因和TBX5基因突变无差异,推测辅助生殖技术并未引起NKX2.5基因和TBX5基因突变。
[Abstract]:Objective to investigate the difference of NKX2.5 gene and TBX5 gene mutation between IVF and natural conception infants with congenital heart disease (CHD).Methods Polymerase chain reaction (PCR) combined with DNA sequencing technique was used to detect the mutation of NKX2.5 gene coding region 1 / 2 and TBX5 gene coding region 4 / 5 / 8 in 68 children with congenital heart disease (CHD) and 98 children with congenital heart disease (CHD).Results in IVF infants with congenital heart disease,There was no significant difference in genotype and allele frequency between the two groups. No mutation was detected in the coding region 2 of NKX2.5 and the coding region of TBX5.Conclusion there is no difference in mutation of NKX2.5 gene and TBX5 gene between IVF and naturally conceived infants. It is speculated that assisted reproductive technique has not caused NKX2.5 gene and TBX5 gene mutation.
【作者单位】： 云南省第一人民医院儿科;昆明理工大学附属昆华医院儿科;
【基金】：云南省自然科学基金(2010ZC213)
【分类号】：R725.4
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本文编号：1753452