圓錐動(dòng)脈干畸形患兒NOTCH1和JAG1基因3’非編碼區(qū)變異分析
發(fā)布時(shí)間：2018-08-14 14:20
【摘要】：目的·探索NOTCH1和JAG1的3’非編碼區(qū)(3’UTR)核苷酸變異與心臟圓錐動(dòng)脈干畸形(CTD)的相關(guān)性。方法·采用病例-對(duì)照的研究方法,收集600名無22q11缺失的CTD患兒以及300名正常對(duì)照兒童。應(yīng)用高通量測(cè)序技術(shù)直接檢測(cè)樣本人群NOTCH1和JAG1 3’UTR區(qū)段的序列,篩選變異位點(diǎn),通過PCR和Sanger測(cè)序法驗(yàn)證變異的準(zhǔn)確性。運(yùn)用在線軟件Target Scan、Pic Tar和micro RNA.org對(duì)變異位點(diǎn)進(jìn)行功能預(yù)測(cè)分析。結(jié)果·檢測(cè)出CTD患兒NOTCH1 3’UTR區(qū)存在1個(gè)新發(fā)突變和3個(gè)單核苷酸多態(tài)性(SNP),JAG1 3’UTR區(qū)存在3個(gè)新發(fā)突變和6個(gè)SNP位點(diǎn)。其中JAG1 3’UTR區(qū)有2個(gè)SNP位點(diǎn)(rs3840074、rs8708)的基因型在病例組和對(duì)照組間的分布差異有統(tǒng)計(jì)學(xué)意義(均P0.05)。預(yù)測(cè)結(jié)果顯示4個(gè)突變位點(diǎn)及2個(gè)有差異的SNP位點(diǎn)均可與微小RNA結(jié)合。結(jié)論·NOTCH1和JAG1 3’UTR區(qū)的核苷酸變異可能與心臟圓錐動(dòng)脈干畸形的發(fā)生相關(guān)。
[Abstract]:Objective to investigate the correlation between 3 'noncoding region (3'UTR) nucleotide variation in NOTCH1 and JAG1 and (CTD) in cardiac conical trunk malformation. Methods A case-control study was conducted in 600 children with CTD without 22q11 deletion and 300 normal controls. The high throughput sequencing technique was used to detect the sequence of NOTCH1 and JAG1 3'UTR directly and to screen the mutation sites. The accuracy of the variation was verified by PCR and Sanger sequencing. The functional prediction of mutation sites was carried out by using online software Target sic Tar and micro RNA.org. Results one new mutation in the NOTCH1 3'UTR region and three single nucleotide polymorphisms in the JAG1 3'UTR region of (SNP) were detected in children with CTD. There were 3 new mutations and 6 SNP loci in the NOTCH1 3'UTR region. The genotypes of two SNP loci (rs3840074, rs8708) in the JAG1 3'UTR region were significantly different between the case group and the control group (P0.05). The predicted results showed that four mutation sites and two different SNP loci could bind to small RNA. Conclusion the nucleotide variation of NOTCH1 and JAG1 3'UTR may be related to the malformation of cardiac conical artery trunk.
【作者單位】： 上海交通大學(xué)醫(yī)學(xué)院附屬新華醫(yī)院小兒心血管科;上海交通大學(xué)醫(yī)學(xué)院附屬新華醫(yī)院科研中心;上海交通大學(xué)醫(yī)學(xué)院附屬上海兒童醫(yī)學(xué)中心;
【基金】：上海市公共衛(wèi)生體系建設(shè)三年行動(dòng)計(jì)劃(GWIV-23) 上海市教育委員會(huì)科研創(chuàng)新項(xiàng)目(15ZZ055)~~
【分類號(hào)】：R725.4
[Abstract]:Objective to investigate the correlation between 3 'noncoding region (3'UTR) nucleotide variation in NOTCH1 and JAG1 and (CTD) in cardiac conical trunk malformation. Methods A case-control study was conducted in 600 children with CTD without 22q11 deletion and 300 normal controls. The high throughput sequencing technique was used to detect the sequence of NOTCH1 and JAG1 3'UTR directly and to screen the mutation sites. The accuracy of the variation was verified by PCR and Sanger sequencing. The functional prediction of mutation sites was carried out by using online software Target sic Tar and micro RNA.org. Results one new mutation in the NOTCH1 3'UTR region and three single nucleotide polymorphisms in the JAG1 3'UTR region of (SNP) were detected in children with CTD. There were 3 new mutations and 6 SNP loci in the NOTCH1 3'UTR region. The genotypes of two SNP loci (rs3840074, rs8708) in the JAG1 3'UTR region were significantly different between the case group and the control group (P0.05). The predicted results showed that four mutation sites and two different SNP loci could bind to small RNA. Conclusion the nucleotide variation of NOTCH1 and JAG1 3'UTR may be related to the malformation of cardiac conical artery trunk.
【作者單位】： 上海交通大學(xué)醫(yī)學(xué)院附屬新華醫(yī)院小兒心血管科;上海交通大學(xué)醫(yī)學(xué)院附屬新華醫(yī)院科研中心;上海交通大學(xué)醫(yī)學(xué)院附屬上海兒童醫(yī)學(xué)中心;
【基金】：上海市公共衛(wèi)生體系建設(shè)三年行動(dòng)計(jì)劃(GWIV-23) 上海市教育委員會(huì)科研創(chuàng)新項(xiàng)目(15ZZ055)~~
【分類號(hào)】：R725.4
【參考文獻(xiàn)】
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