新生兒聾病基因（GJB2、SLC26A4、線粒體12SrRNA）的分子流行病學(xué)研究
發(fā)布時(shí)間：2019-06-07 10:57
【摘要】： 目的 通過對(duì)新生兒開展聾病易感基因篩查,即對(duì)新生兒(GJB2、SLC26A4、線粒體12SrRNA)基因突變情況進(jìn)行檢測(cè),探討新生兒中聾病易感基因的分子流行病學(xué)特點(diǎn),為制定防聾治聾策略提供依據(jù)。 方法 以2008年1月至2009年6月出生于中國醫(yī)科大學(xué)附屬盛京醫(yī)院產(chǎn)科病房的659例新生兒作為研究對(duì)象。在新生兒生后3天,采用含有聽力篩查信息和血樣信息的新生兒遺傳疾病篩查采樣卡,采集新生兒點(diǎn)滴微量足跟血(不超過125ul)。采樣卡可以直接用于線粒體12SrRNA、GJB2基因、SLC26A4基因的聚合酶鏈擴(kuò)增反應(yīng)(polymerase chain reaction,PCR)。Alw26I限制性內(nèi)切酶篩查線粒體12SrRNA A1555G點(diǎn)突變,對(duì)酶切陽性病例進(jìn)行PCR產(chǎn)物測(cè)序驗(yàn)證。對(duì)GJB2基因編碼區(qū)和SLC26A4基因IVS7-2AG突變位點(diǎn)所在區(qū)域進(jìn)行PCR產(chǎn)物的直接測(cè)序。DNAStar軟件對(duì)測(cè)序結(jié)果進(jìn)行比對(duì)分析。 對(duì)基因突變的新生兒進(jìn)行流行病學(xué)特點(diǎn)分析。 結(jié)果 659例新生兒中GJB2基因235delC雜合突變7例,致病突變的攜帶率為1.06%; SLC26A4基因IVS7-2AG雜合突變3例,致病突變的攜帶率為0.46%,三項(xiàng)基因總突變率1.52%；攜帶突變基因的新生兒男性占2.01%,女性占0.96%；滿族新生兒致病突變的攜帶率最高,為1.82%,漢族為1.57%。 結(jié)論 結(jié)論659例新生兒中耳聾易感基因突變率為1.52%,有男性多于女性、滿族多于漢族的趨勢(shì)。在新生兒中開展聾病易感基因篩查,早期發(fā)現(xiàn)遺傳性耳聾高危人群,是降低耳聾發(fā)病率、提高人口素質(zhì)的重要措施。
[Abstract]:Objective to explore the molecular epidemiological characteristics of deaf susceptible genes in neonates by screening deaf susceptible genes, that is, to detect the mutation of neonatal (GJB2,SLC26A4,) mtDNA gene, and to explore the molecular epidemiological characteristics of deaf susceptible genes in neonates. It provides the basis for the formulation of strategies to prevent deafness and treat deafness. Methods from January 2008 to June 2009, 659 neonates were born in the obstetrics ward of Shengjing Hospital affiliated to China Medical University. On the 3rd day after birth, neonatal genetic disease screening sampling card containing hearing screening information and blood sample information was used to collect trace heel blood (no more than 125ul). The sampling card can be directly used in mtDNA 12s rRNA, GJB2 gene, SLC26A4 gene polymerase chain amplification reaction (polymerase chain reaction,PCR). Alw26I restriction endonuclease screening of mitochondrial 12SrRNA A1555G point mutation, sequencing of PCR products in positive cases. The PCR products were sequenced directly in the coding region of GJB2 gene and the IVS7-2AG mutation site of SLC26A4 gene. The sequencing results were compared and analyzed by DNA Star software. The epidemiological characteristics of neonates with gene mutation were analyzed. Results among 659 neonates, 7 cases had 235delC heterozygous mutation of GJB2 gene, the carrying rate of pathogenic mutation was 1.06%, 3 cases of IVS7-2AG heterozygous mutation of SLC26A4 gene, the carrying rate of pathogenic mutation was 0.46%, and the total mutation rate of three genes was 1.52%. The carrying rate of pathogenic mutation was 2.01% in males and 0.96% in females, and 1.82% in Manchu neonates and 1.57% in Han nationality. Conclusion the mutation rate of deafness susceptible gene in 659 neonates is 1.52%. There is a trend that male is more than female and Manchu is more than Han nationality. It is an important measure to reduce the incidence of deafness and improve the quality of the population to screen the susceptible genes of deaf diseases in neonates and to detect the high risk population of hereditary deafness at an early stage.
【學(xué)位授予單位】：中國醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2010
【分類號(hào)】：R764.5
本文編號(hào)：2494742
[Abstract]:Objective to explore the molecular epidemiological characteristics of deaf susceptible genes in neonates by screening deaf susceptible genes, that is, to detect the mutation of neonatal (GJB2,SLC26A4,) mtDNA gene, and to explore the molecular epidemiological characteristics of deaf susceptible genes in neonates. It provides the basis for the formulation of strategies to prevent deafness and treat deafness. Methods from January 2008 to June 2009, 659 neonates were born in the obstetrics ward of Shengjing Hospital affiliated to China Medical University. On the 3rd day after birth, neonatal genetic disease screening sampling card containing hearing screening information and blood sample information was used to collect trace heel blood (no more than 125ul). The sampling card can be directly used in mtDNA 12s rRNA, GJB2 gene, SLC26A4 gene polymerase chain amplification reaction (polymerase chain reaction,PCR). Alw26I restriction endonuclease screening of mitochondrial 12SrRNA A1555G point mutation, sequencing of PCR products in positive cases. The PCR products were sequenced directly in the coding region of GJB2 gene and the IVS7-2AG mutation site of SLC26A4 gene. The sequencing results were compared and analyzed by DNA Star software. The epidemiological characteristics of neonates with gene mutation were analyzed. Results among 659 neonates, 7 cases had 235delC heterozygous mutation of GJB2 gene, the carrying rate of pathogenic mutation was 1.06%, 3 cases of IVS7-2AG heterozygous mutation of SLC26A4 gene, the carrying rate of pathogenic mutation was 0.46%, and the total mutation rate of three genes was 1.52%. The carrying rate of pathogenic mutation was 2.01% in males and 0.96% in females, and 1.82% in Manchu neonates and 1.57% in Han nationality. Conclusion the mutation rate of deafness susceptible gene in 659 neonates is 1.52%. There is a trend that male is more than female and Manchu is more than Han nationality. It is an important measure to reduce the incidence of deafness and improve the quality of the population to screen the susceptible genes of deaf diseases in neonates and to detect the high risk population of hereditary deafness at an early stage.
【學(xué)位授予單位】：中國醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2010
【分類號(hào)】：R764.5
【引證文獻(xiàn)】
相關(guān)博士學(xué)位論文 前1條
1 賴若沙;極重度感音神經(jīng)性聾兒童致聾因素分析、常見基因檢測(cè)及其種族差異性研究[D];中南大學(xué);2011年
，本文編號(hào)：2494742
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