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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 the acceptance of common deafness gene screening in pregnant women in Handan area and the carrying rate of mitochondrial 12SrRNA mutation in pregnant women. Methods The screening of common deafness genes in pregnant women was disseminated. After receiving the informed consent, each subject took peripheral blood and DNA was extracted for polymerase chain reaction (PCR) of mitochondrial 12S rRNA gene ). Two gene fragments of mitochondrial 12S rRNA gene were directly sequenced by direct sequencing. Results 1.1100 cases of pregnant women, 1000 agreed to common deafness gene screening, the acceptance rate of 90.9%; 2. Drugs 1000 cases of subjects, the subjects were clearly used during pregnancy aminoglycoside antibiotics were 33 cases (3.3 %). One of 33 cases (3.03%) had mitochondrial gene A1555G mutation. Medication time during pregnancy, mostly due to cold medication, fever and diarrhea, the specific dosage is unknown. 3.PCR test results DNA samples of 1000 pregnant women (mitochondrial 12SrRNA gene two gene fragments) PCR amplification, amplification product fragment size and expectations. Sequencing resultsThree pregnant women who carried mitochondrial 12S rRNA gene A1555G point mutation (0.3%) were enrolled. Two cases (0.2%) carrying mitochondrial 12S rRNA gene C1494T point mutation were detected. Carrying the mitochondrial gene A1555G mutation, the offspring are also predicted carriers of this mutation, the need to strictly prohibit life-long use of aminoglycoside antibiotics. Conclusion Common deafness gene screening is highly accepted in pregnant women. If it is included in routine prenatal screening programs, primary prevention of hereditary deafness may be initially achieved, effectively preventing the birth of new children and improving the population quality.