兰州大学机构库 >学院待认领
甘肃省特有少数民族耳聋人群常见耳聋基因的分子流行病学研究
Alternative TitleStudy On Molecular Epidemiological Of Common Deafness Gene In Deaf People From Sole Minority Nationalities In Gansu Province
边盼盼
Thesis Advisor郭玉芬
2013-05-14
Degree Grantor兰州大学
Place of Conferral兰州
Degree Name硕士
Keyword耳聋 GJB2 SLC26A4 mtDNA1555A>G mtDNA1494C>T 东乡族 保安族 裕固族 突变
Abstract目的:研究GJB2基因、SLC26A4基因及mtDNA1555A>G和mtDNA1494C>T突变在甘肃省特有少数民族感音神经性耳聋人群的流行状况,并分析其民族特异性。 方法:在签署知情同意书的前提下,采集甘肃省特有少数民族及汉族中重度至极重度感音神经性聋患者的外周静脉血,盐析法提取DNA,针对目的基因及位点行PCR扩增及DNA序列测定,使用DNAstar7.0软件对比分析突变位点,总结各民族的突变频率和热点突变情况。 结果: 1、GJB2基因在东乡族、裕固族、保安族和汉族耳聋患者中的致病等位基因频率分别为9.03%、12.5%、5.88%、12.17%,三个少数民族与汉族均无统计学差异 。 c.235delC和c.299_300delAT是东乡族的热点突变,c.35delG是裕固族的热点突变。东乡族c.299_300delAT和裕固族c.35delG的等位基因频率均高于汉族。 2、SLC26A4基因在东乡族、裕固族、保安族和汉族耳聋患者中的致病等位基因频率分别为3.23%、8.33%、0%、9.81%,东乡族与汉族之间有统计学差异。东乡族、裕固族和汉族的热点突变均是IVS7-2A>G。 3、在东乡族、裕固族和保安族耳聋患者中mtDNA1555A>G突变频率分别均为0%,汉族突变频率为6.03%,明显高于东乡族;mtDNA1494C>T突变频率分别为0%、8.33%、0%,东乡族明显低于裕固族,余各族之间无差异。 结论:1、GJB2基因在致病突变频率和致病等位基因频率上特有少数民族与汉族均无统计学差异;东乡族热点突变是c.299_300delAT和c.235delC,裕固族热点突变是c.35delG,保安族尚不能确定。2、SLC26A4基因在致病突变频率上特有少数民族与汉族均无统计学差异;在致病等位基因频率上东乡族低于汉族,其他各民族间无统计学差异;东乡族、裕固族的热点突变均是IVS7-2A>G,与汉族相同。3、mtDNA1555A>G突变频率上东乡族低于汉族,其他民族间无统计学差异。
Other AbstractObjective: To understand the prevalence of GJB2 gene, SLC26A4 gene, mtDNA1555A>G and mtDNA1494C>T mutation; to analyze the specificity of deaf people from sole minority nationalities in Gansu province. Methods: Peripheral blood samples with moderately severe to profound sensorineural hearing loss (NSHL) in Gansu province to extract genomic DNA. The coding of GJB2 gene ,the 8 and19 exons of SLC26A4 and the samples which had mtDNA1555A>G or mtDNA1494C>T after screening of species-specific PCR were analyzed after PCR and direct sequencing, and then make a comparison and contrast with 464 patients with SNHL form ethnic Han, Gansu. Results: 1.The allele frequency of GJB2 gene in Dongxiang 155 cases, Yugur 12 cases and Bonan 17 cases were 9.03%(28/310), 12.5%(3/24)and 5.88%(2/34) respectively, no difference were found to ethnic Han . c.235delC and c.299_300delAT were the mutation hotspots of ethnic Dongxiang. c.35delG was the highest allele frequency which was 8.33%(2/24)in ethnic Yugur. It is higher than ethnic Han that both of the allele frequency of c.299_300delAT in ethnic Dongxiang and c.35delG in ethnic Yugur. 2. The allele frequency of SLC26A4 gene in Dongxiang , Yugur, Bonan and Han were 3.23%(10/310),8.33%(2/24),0%(0/34) and 9.81%(91/928)respectively, no difference were found between each ethnics except Dongxiang and Han. IVS7-2A>G was the mutation hotspot both in Dongxiang, Yugur and Han.3. The mutation frequency of mtDNA1555A>G in Dongxiang , Yugur, Bonan and Han were 0%(0/155),0%(0/12),0%(0/17)and 6.03%(28/464) respectively, no difference were found between each ethnics except Dongxiang and Han.The mutation frequency of mtDNA1494C>T in Dongxiang , Yugur and Bonan were 0%(0/155),8.33%(1/12) and 0%(0/17) respectively, no difference were found between each ethnics except Dongxiang and Yugur. Conclusion: The prevalence of GJB2 gene,SLC26A4 gene,mtDNA1555A>G and mtDNA1494C>T mutation in sole minority nationalities in Gansu province has ethnic specificity with each other.
URL查看原文
Language中文
Document Type学位论文
Identifierhttps://ir.lzu.edu.cn/handle/262010/223496
Collection学院待认领
Affiliation临床医学院
Recommended Citation
GB/T 7714
边盼盼. 甘肃省特有少数民族耳聋人群常见耳聋基因的分子流行病学研究[D]. 兰州. 兰州大学,2013.
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