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首页> 外文期刊>GMS Current Posters in Otorhinolaryngology,Head and Neck Surgery >Frequency of occurrence of recessive 35delG mutation in GJB2 gene in children with sensorineural hearing loss
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Frequency of occurrence of recessive 35delG mutation in GJB2 gene in children with sensorineural hearing loss

机译：感音神经性听力损失患儿GJB2基因隐性35delG突变的发生频率

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Abstract Introduction: A human being is known to have about 100 genes associated with deafness and hearing loss, which are located in both the nucleus and mitochondria. Most commonly detected mutations are those in the GJB2 gene, mononucleotic deletion 35 delG including, which accounts for up to 50% of cases of neurosensory hearing loss in Europeans.We studied frequency of occurrence of the above-mentioned mutation among Belarusian schoolchildren with the impaired hearing. Methods: 35delG mutation was detected with the help of blood’s polymerase chain reaction. The children’s parents were asked about the presence of risk factors and timely diagnosis of sensorineural hearing loss by means of questionnaires.Results: 68 children aged 6–19 years old with severe to profound bilateral sensorineural hearing loss (according to the WHO classification) were examined. Autosomal recessive genotype was detected in 51.4%, heterozygous genotype in 2.9% of children.The questionnaires showed that impaired hearing was first noted by the parents when the child was under 1 year old in 42.6%, from 1 to 3 years old in 38.2%, and above 3 years old in 19.1% of children.Reasons for impaired hearing as reported by the parents were as follows: ototoxic antibiotics intake in 32.3%, heredity in 30.9%, unknown factors in 25%, other factors in 11.8% of children.Conclusion: 1.The conducted study demonstrates frequent occurrence of 35delG nuclear mutation (53.4%) in sensorineural hearing loss in children from Minsk-city.2.Possible risk factors for sensorineural hearing loss such as ototoxic antibiotics intake and heredity have been determined.3.Impaired hearing loss has been noted by parents in almost half of the children (42.6%) under 1 year old.
机译：摘要简介：已知人类有约100个与耳聋和听力下降有关的基因，它们位于细胞核和线粒体中。最常见的突变是GJB2基因中的突变，包括35 delG的单核苷酸缺失，占欧洲人神经感觉性听力丧失病例的50％。我们研究了白俄罗斯学龄儿童受损的上述突变的发生频率听力。方法：借助血液的聚合酶链反应检测35delG突变。结果通过对68名6至19岁的严重双侧或严重双侧感觉神经性听力损失（根据WHO分类）的儿童进行询问，询问儿童父母是否存在危险因素并及时诊断感觉神经性听力损失。 。调查发现，常染色体隐性基因型占51.4％，杂合子基因型占2.9％。调查表显示，当年龄在1岁以下的儿童占42.6％时，父母首先注意到听力受损，从1岁到3岁的占38.2％。 ，并且有3岁以上的儿童占19.1％。父母报告的听力受损的原因如下：耳毒性抗生素的摄入量为32.3％，遗传因素为30.9％，未知因素为25％，其他因素为11.8％结论：1.进行的研究表明，明斯克市儿童的感音神经性耳聋经常发生35delG核突变（53.4％）。2.确定了感音神经性耳聋的可能危险因素，例如耳毒性抗生素的摄入和遗传。 3.几乎一半的1岁以下儿童的父母都注意到了听力受损的情况。

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