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目的分析常染色体显性遗传的低频非综合征感音神经性聋与Wolfram综合征Ⅰ型(wolframsyndrome1,WFS1)基因WFS1的关系以及WFS1基因突变特性,从分子遗传学水平探讨其致病机理。方法收集6个低频非综合征感音神经性聋家系中28例成员以及140例健康对照个体的外周血DNA样本;采用聚合酶链反应,直接序列分析和限制性片断长度多态性分析方法,进行WFS1基因编码区的筛查。结果发现2个家系6例耳聋成员测序结果异常。1个家系发现所有耳聋患者WFS1基因的编码区2379位碱基G杂合性改变成A,导致错义突变;另1家系先证者WFS1基因的编码区2016位碱基G杂合性改变成T,先证者之妹2776位碱基G杂合性改变成A,导致错义突变;先证者之母为一Wolfram综合征伴有心理障碍患者,发现其为2016位2776位碱基复合型错义突变。这2个家系听力正常者及健康对照者中无此突变。结论WFS1基因异质性突变引起低频非综合征感音神经性聋,主要突变为错义突变,遗传咨询和基因检测对该类型耳聋诊治具有指导意义。通信作者:刘玉和,Email:liuyuhe@xinhuanet·com
Objective To analyze the relationship between autosomal dominant low-frequency non-syndromic sensorineural hearing loss and WFS1 gene WFS1 and the mutation characteristics of WFS1 gene, and to explore its pathogenesis from molecular genetic level. Methods Peripheral blood DNA samples of 28 low-frequency non-syndromic sensorineural hearing-loss deaf families and 140 healthy control subjects were collected. Using polymerase chain reaction, direct sequence analysis and restriction fragment length polymorphism (PCR-RFLP) The WFS1 gene coding region was screened. The results showed that two families of 6 cases of deafness abnormal sequencing results. 1 family found that all deafness WFS1 gene coding region 2379 base G heterozygous changed to A, resulting in missense mutations; the other a family of proband WFS1 gene coding region 2016 base G heterozygosity changed into T, the proband’s sister 2776 base G heterozygous change into A, leading to missense mutations; the mother of a proband is a Wolfram syndrome associated with psychological disorders, found that it is 2016 2776 base recombination Missense mutations. There was no such mutation in the two families with normal hearing and healthy controls. Conclusion Heterozygous mutation of WFS1 gene leads to low-frequency non-syndromic sensorineural hearing loss. The main mutation is missense mutation. Genetic counseling and genetic testing are helpful for the diagnosis and treatment of this type of deafness. Corresponding author: Liu and, Email: liuyuhe @ xinhuanet · com