| 王春英 汤唯波 徐平 冯淼 崔忠涛 柏智刚 蔡勋功 姜鹏 崔庆佳.黑龙江省部分地区非综合性耳聋的分子病因学调查[J].,2014,14(27):5334-5338 |
| 黑龙江省部分地区非综合性耳聋的分子病因学调查 |
| The Investigation of Molecular Etiology to Genetic Deafness in Some Areasof Heilongjiang Province |
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| DOI： |
| 中文关键词: 遗传 非综合征性耳聋 Slc26A4 GJB2 GJB3 基因突变 |
| 英文关键词: Non-syndromic Deafness Slc26A4 GJB2 GJB3 Gene mutation/heredity |
| 基金项目:国家自然科学基金项目(31170806；30770533；30270423)；黑龙江省自然科学基金项目(D201068) |
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| 中文摘要: |
| 目的：采用基因诊断的方法调查和分析黑龙江省部分地区非综合性耳聋(NSHL)的分子病因学。方法：调查对象为哈尔滨医
科大学附属第四医院耳鼻咽喉科门诊收治的116 例来自黑龙江省部分地区的散发非综合征型耳聋患者和29 例听力正常样本，
均经过纯音听阈、声导抗、耳声发射、听性脑干诱发电位等检查，其中51 例属于重度或极重度感音神经性耳聋，采集其外周血并
提取DNA 行GJB2、Slc26A4、GJB3、SrRNA1555 基因编码区测序。结果：与耳聋相关的基因突变位点主要为GJB2-235、
Slc26A4-IVS7-2 和GJB2-299，其中GJB2-235 基因变异为最主要方式，约占总检出耳聋患者的45.2%，其次为该基因的299 位点，
突变比率为16.1%。另一个主要突变基因是Slc26A4，主要在IVS7-2 位点发生突变，约占Slc26A4 基因位点突变的84.6%，在整个
耳聋基因突变群体中约占17.7%。但上述基因突变位点在29 例听力正常样本中无发生。结论：黑龙江省部分地区NSHL患者存在
GJB2-235、Slc26A4- IVS7-2 和GJB2-299 位点突变。 |
| 英文摘要: |
| Objective:This study is aimed to analysis the mutations of the four common deafness genes GJB2,SLC26A4
SrRNA1555 and GJB3 in Some areas of Heilongjiang Province, and to investigate the molecular etiology to genetic deafness through the
gene diagnosis method.Methods:116 unrelated patients with non-syndromic hearing impairment and 29 cases had normal hearing
sample were recruited from Department of otolaryngology, Fourth Affiliated Hospital of Harbin Medical University. 51 patients were
diagnosed Profound or severe sensor ineural hearing impairment with otoacoustic emission, auditory brainstem response audiometry and
acoustic immit tance. Blood samples were collected, and four common genes GJB2,SLC26A4 and GJB3, SrRNA1555 were sequenced.Results:In these 62 patients, there was no significant correlation between the way of born and deafness, and patients without family
history had high proportion, and there was direct relation with medical history. The deafness-related spots were GJB2 c.235delC,
SLC26A4 c.IVS7-2 A>G and GJB2 c.299_300delAT. 45.2% was GJB2 c.235delC, 16.1% was GJB2 c.299_300delAT, and 17.7% was
SLC26A4 c.IVS7-2 A>G. The hot spot of SLC26A4 was c.IVS7-2 A>G, was 84.6%. But the gene mutation had not occurred in the
sample with normal hearing.Conclusion:The deafness gene mutation can lead to hearing impairment in this study. The diagnosis in
molecular etiology is aimed at support the follow-up treatment, and provide important hereditary information such as genetic counseling
premarital health guidance. |
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