线粒体DNA A1555G突变在新生儿大规模筛查的临床意义

目的 探讨在新生儿中进行线粒体DNA(mitochondria DNA,mtDNA)A1555G突变基因大规模筛查在预防药物性耳聋的必要性.方法 随机取2008年在深圳市出生的1000名新生儿的血滤纸标本,用Chelex-100树脂提取DNA,PCR扩增,变性高效液相色谱法(denaturing hig-performance liquid chromatography,DHPLC)进行mtDNA A1555G突变基因筛查,计算出阳性突变频率.结果 1000名新生儿血滤纸样本中,共检测出2例样本存在mtDNA A1555G突变,突变率为0.2%.结论 mtDNA A1555G突变在新生儿中出现的频率较高,对其进行mtDNA A1555G突变大规模筛查发现氨基甙类抗生素敏感个体,能有效地对新生儿及其家族高危人群进行合理性指导用药,从而更好地预防药物性耳聋.

Clinical significance of large-scale screening of A1555G mutation of mitochondria DNA for neonates

Objective To explore the necessity of large-scale screening of mitochondria DNA (mtDNA) A1555G mutation for prevention of aminoglycoside antibiotic induced deafness in newborns.Methods One thousand blood filter samples were collected from neonates born in July 2008 in Shenzhen.DNA was extracted with Chelex-100 Resin and amplified by PCR. The mtDNA A1555G mutation was determined by denaturing high-performance liquid chromatography (DHPLC) for PCR products. The positive frequency was calculated. Results The mitochondrial DNA A1555G mutation was detected in 2 cases of 1000 neonates. The frequency of mutation was 0. 2%. Conclusion There is a high frequency of mtDNAA1555G mutation in neonates, the large-scale screening of mtDNAA1555G mutation in newborns might detect the individuals sensitive to aminoglycoside antibiotic, which is helpful to guide a rational medication for newborns and the maternal relatives at high-risk. Furthermore, it might be useful to prevent aminoglycoside antibiotic induced deafness.