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  本文選題：耳聾 + 基因芯片��； 參考：《貴州醫(yī)科大學(xué)》2017年碩士論文

【摘要】：目的:分析貴州地區(qū)非綜合征型聾患者常見耳聾基因突變特點,初步了解該地區(qū)耳聾基因熱點突變譜系及頻率。方法:采集貴州省356例,平均年齡為11.90±12.23歲的非綜合征型聾患者外周血3-5ml,予核酸提取試劑盒提取基因組DNA,應(yīng)用遺傳性耳聾基因芯片檢測試劑盒對4個常見耳聾基因的的9個突變熱點(GJB2 基因 35delG、176del16、235delC、299delAT 突變,SLC26A4基因 IVS7-2AG、2168AG 突變,GJB3 基因 538CT 突變,12SrRNA 基因1555AG和1494CT突變)進(jìn)行檢測。結(jié)果:356例非綜合征型聾患者,88例(24.72%)檢出攜帶不同基因突變;1例攜帶GJB2、SLC26A4雙基因突變,GJB2基因突變者40例(11.24%)(含前述1例雙基因突變者),其中純合突變19例(5.34%)復(fù)合雜合突變5例(1.40%),單雜合突變15例(4.21%);SLC26A4基因突變者29例(8.15%)(含前述1例雙基因突變者),其中純合突變9例(2.53%),單雜合突變19例(5.34%);線粒體DNA12SrRNA基因突變19例(5.34%),其中1555AG均質(zhì)突變10例(2.81%),1555AG異質(zhì)突變7例(1.97%),1494CT均質(zhì)突變2例(0.56%);1例患者攜帶GJB3基因538CT雜合突變。其中247例民族信息確定的非綜合征型聾患者中,漢族耳聾基因突變檢出率為35.00%(49/140),少數(shù)民族耳聾基因突變檢出率為18.69%(20/107),其中漢族突變檢出率較少數(shù)民族高,差別有統(tǒng)計學(xué)意義(χ2=8.012,P=0.005);苗族、布依族、侗族、土家族耳聾基因檢出率分別為19.51%(8/41)、11.76%(2/17)、30.00%(6/20)及 12.50%(1/8)(余少數(shù)民族因總病例數(shù)較少未進(jìn)行統(tǒng)計學(xué)分析),差別無統(tǒng)計學(xué)意義(χ2=2.275,P0.05)。結(jié)論:貴州地區(qū)非綜合征型聾患者中以GJB2基因和SLC26A4基因為最主要的致病基因,其中235delC突變?yōu)樽畛Ｒ娡蛔兾稽c,其次為IVS7-2AG突變;對貴州省各民族非綜合征型聾患者耳聾基因突變熱點分析,表明不同民族耳聾患者的耳聾基因突變普和優(yōu)勢突變有一定差異,為該地區(qū)開展基因診斷、遺傳咨詢和預(yù)防干預(yù)提供有力依據(jù)。
[Abstract]:Objective: to analyze the characteristics of common deafness gene mutations in non-syndromic deafness patients in Guizhou and to understand the pedigree and frequency of hot spot mutations of deafness genes in Guizhou. Methods: 356 cases of Guizhou province were collected. Patients with non-syndromic deafness aged 11.90 鹵12.23 years old received nucleic acid extraction kit to extract genomic DNA from peripheral blood of 3-5ml. Nine mutations of GJB2 gene in 4 common deafness genes were detected by genetic deafness gene chip assay kit. The mutation of SLC26A4 gene, IVS7-2AG2168AG, 538CT mutation of GJB3 gene, 12s rRNA gene 1555AG and 1494CT mutation, were detected. Results among the 356 cases of non-syndromic deafness, 88 cases (24.72%) were found to be carrying different gene mutations. One case was carrying GJB 2n SLC26A4 double gene mutation. 40 cases had GJB2 gene mutation. (including one case mentioned above, 19 cases were homozygous mutation, 19 cases were 5.34) complex heterozygous process. There were 5 cases with 1.40T, 15 cases with single heterozygous mutation, 29 cases with single mutation of SLC26A4 gene, 29 cases with 8.15A gene mutation (including the one case mentioned above, 9 cases with homozygous mutation, 9 cases with homozygous mutation, 19 cases with single heterozygosity mutation, 19 cases with mitochondrial DNA12SrRNA gene mutation, including 10 cases with 1555AG homogenicity mutation, 10 cases with 2.81A = 1555AG). Heterozygosity 7 cases (1.97%) and 1494 CT homogenous mutation 2 cases (0.56%) carried 538CT heterozygosity of GJB3 gene. Of the 247 non-syndromic deafness patients identified by ethnic information, the mutation rate of deafness gene in Han nationality was 35.00 / 140%, and that in minority nationality was 18.690.20 / 107g. The mutation rate of Han nationality was higher than that of minority nationality (蠂 ~ 2 / 8.012 / P ~ 0.005; Miao nationality). The detectable rate of deafness genes in Buyi, Dong and Tujia were 19.51% and 11.76 / 41 / 11.76 / 2 / 17 / 30.006 / 20, respectively, and 12.50% / 8% of deafness were not statistically analyzed (蠂 22.275%, P 0.05), but the difference was not statistically significant (蠂 22.275%, P 0.05), but the difference was not significant (蠂 22.275%, P 0.05), and the difference was not significant (蠂 22.275%, P 0.05). Conclusion: GJB2 gene and SLC26A4 gene are the main pathogenic genes in non-syndromic deafness patients in Guizhou area. 235delC mutation is the most common mutation site, followed by IVS7-2AG mutation. The hot spot analysis of deafness gene mutation in non-syndromic deafness patients of different nationalities in Guizhou province shows that there are some differences between the common mutation and dominant mutation of deafness gene in different nationalities of deafness patients. Genetic counseling and preventive intervention provide a strong basis.
【學(xué)位授予單位】：貴州醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R764.43

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