本文選題：先天性心臟病 + NKX.基因　； 參考：《中國當代兒科雜志》2017年06期

【摘要】：目的探討患先天性心臟病的試管嬰兒與自然受孕兒間是否存在NKX2.5基因和TBX5基因突變差異。方法應(yīng)用聚合酶鏈反應(yīng)結(jié)合DNA測序技術(shù),對68例試管嬰兒先天性心臟病患兒和98例自然受孕先天性心臟病患兒的NKX2.5基因編碼區(qū)1、2和TBX5基因編碼區(qū)4、5、8進行突變檢測。結(jié)果在患先天性心臟病的試管嬰兒與自然受孕兒中,均發(fā)現(xiàn)NKX2.5基因編碼區(qū)1中第63位堿基發(fā)生突變(c.63AG),該位點基因型及等位基因頻率的分布在兩組間差異無統(tǒng)計學意義。NKX2.5基因編碼區(qū)2和TBX5基因編碼區(qū)4、5、8未檢測到突變。結(jié)論先天性心臟病的試管嬰兒與自然受孕兒間NKX2.5基因和TBX5基因突變無差異,推測輔助生殖技術(shù)并未引起NKX2.5基因和TBX5基因突變。
[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.
【作者單位】： 云南省第一人民醫(yī)院兒科;昆明理工大學附屬昆華醫(yī)院兒科;
【基金】：云南省自然科學基金(2010ZC213)
【分類號】：R725.4
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本文編號：1753452