邯郸地区孕期女性线粒体12SrRNA基因筛查及突变分析

Screening and mutation analysis of mitochondrial 12srRNA gene in pregnant women of Handan region

目的调查邯郸地区孕期女性对常见耳聋基因筛查的接受程度以及孕期女性线粒体12SrRNA基因突变的携带率。方法对孕期女性进行常见耳聋基因筛查内容的宣传,每位受检者在签署知情同意书后,抽取外周血并提取DNA,用于线粒体12SrRNA基因的聚合酶链扩增反应(polymerase chain reaction,PCR),应用直接测序法分别对线粒体12SrRNA基因的2个基因片段进行直接测序。结果 1.1100例孕期女性中,1000例同意进行常见耳聋基因筛查,接受率达90.9%;2.用药情况1000例研究对象中,被测者孕期明确应用过氨基糖甙类抗生素者33例(3.3%),33例中有1例(3.03%)存在线粒体基因A1555G位点突变。用药的时间为期妊娠期,用药原因多为感冒、发烧和腹泻,具体的用药剂量不详。3.PCR检测结果以1000例孕期女性的DNA样本(线粒体12SrRNA基因的2个基因片段)进行PCR扩增,扩增产物片段大小与预期相符。4.测序结果被检测的1000名孕期女性者中,携带线粒体12SrRNA基因A1555G点突变的3例(占0.3%);携带线粒体12SrRNA基因C1494T点突变的2例(占0.2%)。携带线粒体基因A1555G突变,预测后代亦为此突变携带者,需要终生严格禁止使用氨基糖甙类抗生素。结论常见耳聋基因筛查在孕期女性中接受程度高,如果列入常规产前筛查项目之中,可初步实现遗传性耳聋的一级预防,有效地防止新的患儿出生,提高人口素质。

Objective：To investigate acceptance of common causative deaf gene Screening and carrier rates of mitochondrial 12srRNA gene among pregnant women in Handan region.Methods：One thousand and One hundred pregnant women were offered a free Screening of common causative deaf gene at perinatal visits.Of these women,collect 1000 cases pregnant women blood specimens.The expression of mitochondrial 12srRNA gene expression were detected by using polymerase chain reaction（PCR） methods.Application directly sequenced to detect the mutations of mitochondrial 12SrRNA gene.Results：1.Common genetic screening deaf accept rate 1100 cases of pregnancy in women,1000 cases to agree to common genetic screening deafness,accept rate was 90.9%;2.Using drugs situation 1000 cases of research object,used clear aminoglucoside the class antibiotic 33 cases（33%）.In 33 cases have 1cases（3.03%） exist mitochondrial gene mutations A1555G sites.The use of drug time mainly focus on the research object during pregnancy,used more for a cold,fever and diarrhea,concrete the dosage is unknown.3.PCR test results 1000 cases pregnant women with DNA samples（mitochondrial 12SrRNA gene two genetic fragments） PCR amplification,amplification product segment size with expectations.4.Sequencing results One thousand pregnant women,3 cases（0.3%） carried mitochondrial A1555G mutation,and 2 cases（0.2%） carried mtDNA C1494T mutation.Carry A1555G mitochondrial gene mutations,predicting that future generations also for this mutation carriers,takes a strict taboo amino sugars glucoside class antibiotic.Conclusions：Common genetic screening women in pregnancy deafness in accept degree high,if on regular prenatal screening programs in,can realize the preliminary genetic deafness primary prevention,can effectively prevent new born children improve population quality.