CN113684271A - 一种先天性角化不良症中的融合基因psmd9-rnf34及其应用和检测试剂盒 - Google Patents
一种先天性角化不良症中的融合基因psmd9-rnf34及其应用和检测试剂盒 Download PDFInfo
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Abstract
本发明提供一种PSMD9‑RNF34融合基因及其应用和检测试剂盒,所述融合基因序列如SEQ ID NO.1所示。本发明首先应用生物信息学方法发现、鉴定了先天性角化不良症的患者及其家系成员中存在新的融合基因PSMD9‑RNF34,并可以作为患者的分子标志物应用于临床诊断、选择合适的治疗方案。
Description
技术领域
本发明涉及生物医学技术领域,尤其涉及一种先天性角化不良症中的新融合基因PSMD9-RNF34及其应用和检测试剂盒。
背景技术
先天性角化不良症(Dyskeratosis congenita,DC)是一种罕见的遗传性骨髓衰竭综合征。除造血功能异常外,常合并皮肤黏膜改变(指甲发育不良,上胸部和/或颈部的网状色素沉着及口腔白斑)、肺纤维化、癌前病变以及多种其他潜在的并发症。DC可通过以下三种形式之一遗传:X-连锁,常染色体显性遗传和常染色体隐性遗传。已知的DC相关基因突变有DKC1、NOP10、NHP2、 TERT、TERC、TINF2、WRAP53、CTC1、RTEL1等,这些基因突变与维持端粒的生物学功能有关。骨髓衰竭常为临床的首发症状,出现在皮肤粘膜异常之前,常被初步诊断为再生障碍性贫血。
DC主要的死亡原因是进行性加重的骨髓衰竭,造血干细胞移植是治疗该类遗传性骨髓衰竭综合征的有效方法。常规治疗如雄激素、免疫抑制治疗等,其治疗效果差,部分患者因得不到及时的诊断而丧失治疗时机,往往预后较差。因此,DC的早期诊断、精准治疗对于改善患者的预后尤为重要。
PSMD9基因定位于人12号染色体q24.2-q24.3,编码的p27蛋白中存在一个包含88个氨基酸残基的PDZ结构域,通过募集其他蛋白质来决定信号级联的方向和幅度,可与多种蛋白相互作用发挥复杂的功能。此外,p27蛋白作为分子伴侣参与蛋白酶体19S调节颗粒基底亚复合体的组装过程。RNF34基因定位在12q24.31,包含6个外显子,编码的RNF34蛋白主要包含三个功能结构域:RING domain、Caspase-Interacting-Domain(CID)和FYVEdomain。RNF34 蛋白主要通过其RING domain的泛素连接酶E3活性促进特定蛋白质的蛋白酶体降解参与调控细胞凋亡过程。
发明内容
本发明的第一个目的在于,提供一种先天性角化不良症融合基因 PSMD9-RNF34。
本发明的第二个目的在于,提供融合基因PSMD9-RNF34在制备先天性角化不良症诊断或监测试剂盒中的应用。
本发明的第三个目的在于,提供一种检测PSMD9-RNF34融合基因的试剂盒。
为了实现上述第一个目的,本发明提供了一种先天性角化不良症中的融合基因PSMD9-RNF34,所述融合基因序列如SEQ ID NO.1所示。
为了实现上述第二个目的,本发明提供了融合基因PSMD9-RNF34在制备先天性角化不良症诊断或监测试剂盒中的应用。部分先天性角化不良症患者携带融合基因PSMD9-RNF34,其可以作为患者特异性的分子标志物,并应用于临床诊断、定期监测患者的微小残留病变。
为了实现上述第三个目的,本发明提供了一种检测PSMD9-RNF34融合基因的试剂盒,所述试剂盒PCR上游引物的核苷酸序列如SEQ ID NO.2所示,下游引物的核苷酸序列如SEQ ID NO.3所示。
本发明的优点在于,本发明首先应用生物信息学方法发现、鉴定了先天性角化不良症的患者及其家系成员中存在新的融合基因PSMD9-RNF34,并可以作为患者的分子标志物应用于临床诊断、选择合适的治疗方案。
附图说明
图1为PSMD9-RNF34融合基因的PCR验证。A:一例先天性角化不良症的家系图;B:12q24.31区域的translocation导致PSMD9-RNF34融合基因发生的图形化展示;C:融合基因在患者及其家系成员、对照样本中的PCR验证; D:携带融合基因的患者及其家系成员PCR验证产物的sanger测序结果图,确认了PSMD9外显子4与RNF34外显子2的融合。
具体实施方式
下面通过具体实施方式来进一步说明本发明的技术方案。本领域技术人员应该明了,所述实施例只是用于帮助理解本发明,不应视为对本发明的具体限制;下述实施例中所使用的实验方法如无特殊说明,均为常规方法;下述实施例中所用的材料、试剂等,如无特殊说明,均可从商业途径得到。
实施例1.先天性角化不良症患者及其家系成员携带PSMD9-RNF34新融合基因
1、应用生物信息学技术筛选一例先天性角化不良症患者,发现存在融合基因PSMD9-RNF34融合基因。
2、应用PCR技术,并对PCR产物进行sanger测序,我们确认该例先天性角化不良症患者携带PSMD9-RNF34新融合基因,具体的CDS序列如SEQ ID NO.1所示,验证结果如图1所示。
3、在该先天性角化不良症的患者家系成员中验证融合基因 PSMD9-RNF34,验证结果如图1所示。
实施例2.PSMD9-RNF34融合基因试剂盒的制备
1、特异性的引物设计
根据基因序列(PSMD9基因序列、RNF34基因序列均来自于美国国家生物技术信息中心核酸数据库,PSMD9基因Entrez Gene ID 5717,基因参考序列NM_002813.7;RNF34基因Entrez Gene ID 80196,基因参考序列NM_194271.3) 设计特异性引物。
引物序列具体如下:
PSMD9-RNF34-F:GATGAACGAGCCGCTGGT(SEQ ID NO.2);
PSMD9-RNF34-R:AGGTGGAAAACTCAGGGT(SEQ ID NO.3)。
2、cDNA第一链合成试剂:FastQuant RT Kit(TIANGEN,KR106),其主要成分包含去除基因组DNA体系、10×Fast RT Buffer、RT Enzyme Mix、RT Primer Mix。检测体系PCR反应液:(TOYOBO,KOD-401),其主要成分包含高保真酶KOD-Plus-Neo、10×PCR Buffer forKOD-Plus-Neo、Mg2+、dNTP。
实施例3.本试剂盒检测的操作流程
1、取送检患者的抗凝血标本,抽提血液中的总RNA:在洁净的1.5ml的离心管中加入1ml红细胞裂解液,并加入抗凝血0.5ml混匀;室温静置10min; 5,000rpm离心5min,弃上清,收集底部的细胞;再次加入0.5ml红细胞裂解液,5,000rpm离心5min,弃上清,收集底部的细胞;向细胞中加入1ml TRIzol,反复吹打直至沉淀完全溶解,室温静置5min;加入0.2ml氯仿,震荡均匀; 14,000rpm 4℃离心10min,吸取上清,转移至另一个新的离心管中;加入等体积的异丙醇,上下充分混匀,室温静置10min;14,000rpm 4℃离心10min,弃上清,加入75%乙醇1ml,轻轻上下颠倒洗涤管壁;14,000rpm 4℃离心5 min,弃乙醇;室温干燥10-15min,加入20μl RNase-free水溶解沉淀。
2、参考TIANGEN公司的FastQuant RT Kit试剂盒说明书,将RNA反转为cDNA。
3、PCR反应液配置:按照PCR反应液说明书配置PCR反应体系,每人份23μl分装。
4、加样:加入检测体系PCR反应液中2μl cDNA,空白对照加2μl生理盐水或不加任何物质。
5、检测:检测在PCR仪上进行,反应条件:94℃预变性2min;98℃10s, 58℃30s,68℃1min,反应40个循环。
6、验证:对PCR反应产物行琼脂糖凝胶电泳,切胶进行Sanger测序以验证。
以上所述仅是本发明的优选实施方式,应当指出,对于本技术领域的普通技术人员来说,在不脱离本发明原理的前提下,还可以做出若干改进,这些改进也应视为本发明的保护范围。
SEQUENCE LISTING
<110> 大连医科大学附属第二医院
上海交通大学医学院附属新华医院
<120> 一种先天性角化不良症中的融合基因PSMD9-RNF34及其应用和检测试剂盒
<130> /
<160> 3
<170> PatentIn version 3.5
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tgcctgcaga atgatcacaa ggcagtgatg aagcaggtgg aggaggccct gcaccagctg 300
cacgctcgcg acaaggagaa gcaggcccgg gacatggctg aggcccacaa agaggccatg 360
agccgcaaac tgggtcagag tgagagccag ggccctccac gggccttcgc caaagtgaac 420
agcatcagcc ccggctcccc agccagcatc gcgggtctgc aagtggatga tgagattgtg 480
gagttcggct ctgtgaacac ccagaacttc cagtcactgc ataacattgg cagtgtggtg 540
cagcacagtg agggggcggg tgccacgtct atgtgggctt cgtgctgtgg gctgctgaat 600
gaagtcatgg gaactggagc tgtcaggggc cagcagtcag catttgcagg agccaccggt 660
ccattcagat ttacaccaaa ccctgagttt tccacctacc caccagcagc tacggaaggg 720
cccaacatag tttgtaaagc ctgtgggctt tcattttcag tctttagaaa gaagcatgtt 780
tgctgtgact gcaagaagga tttttgctcc gtttgttcag tcttacaaga aaatctccgt 840
agatgttcta cttgtcactt attacaagag acagcatttc agcgccctca gttaatgcga 900
ctgaaggtga aggacctgcg gcagtatctc attctgagaa atatacccat agatacttgt 960
cgtgagaaag aagacttggt ggatctagta ctgtgccatc atggactagg ctctgaggac 1020
gacatggaca caagcagtct gaattcttca aggtcccaga cttctagctt ttttacacgt 1080
tcgttttttt caaactatac agccccctct gctactatgt cttcgtttca gggagagctt 1140
atggatggag accaaacatc cagatctgga gtgccggcac aggtacaaag tgaaatcact 1200
tcagcaaaca cagaagatga tgatgacgac gatgatgagg atgatgatga tgaagaagaa 1260
aacgcagagg atcggaaccc cgggctctcc aaggagagag tgagagcttc actgtctgac 1320
ttgtcaagcc ttgatgatgt ggaaggaatg agcgtgcgcc agctgaagga aattctggct 1380
cggaattttg tcaactattc tggctgttgt gaaaaatggg aactggtaga gaaagtaaac 1440
cggttataca aagagaatga agaaaaccaa aagtcctatg gcgagcggct gcagctgcag 1500
gatgaggaag acgacagcct gtgtcgcatc tgcatggatg ccgtcatcga ctgtgtccta 1560
ctggagtgtg ggcacatggt tacctgcacc aagtgcggca agcgcatgag tgagtgtccc 1620
atctgccggc agtatgtggt gcgagccgtg cacgtgttca agtcctga 1668
<210> 2
<211> 18
<212> DNA
<213> 人工合成
<400> 2
gatgaacgag ccgctggt 18
<210> 3
<211> 18
<212> DNA
<213> 人工合成
<400> 3
aggtggaaaa ctcagggt 18
Claims (3)
1.一种先天性角化不良症中的融合基因PSMD9-RNF34,其特征在于,所述融合基因序列如SEQ ID NO.1所示。
2.权利要求1所述先天性角化不良症中的融合基因PSMD9-RNF34在制备先天性角化不良症诊断或监测试剂盒中的应用。
3.一种检测权利要求1所述融合基因PSMD9-RNF34的试剂盒,其特征在于,所述试剂盒PCR上游引物的核苷酸序列如SEQ ID NO.2所示,下游引物的核苷酸序列如SEQ ID NO.3所示。
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CN108513575A (zh) * | 2015-10-23 | 2018-09-07 | 哈佛大学的校长及成员们 | 核碱基编辑器及其用途 |
CN108531575A (zh) * | 2018-04-11 | 2018-09-14 | 杭州艾迪康医学检验中心有限公司 | 检测terc基因全外显子序列突变的引物、试剂盒和方法 |
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CN108513575A (zh) * | 2015-10-23 | 2018-09-07 | 哈佛大学的校长及成员们 | 核碱基编辑器及其用途 |
CN106636391A (zh) * | 2016-12-16 | 2017-05-10 | 福州艾迪康医学检验所有限公司 | 检测先天性角化不良症wrap53基因的方法和引物 |
CN108531575A (zh) * | 2018-04-11 | 2018-09-14 | 杭州艾迪康医学检验中心有限公司 | 检测terc基因全外显子序列突变的引物、试剂盒和方法 |
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