CN114107312A - 突变的肥厚型心肌病致病基因mybpc3及其应用 - Google Patents
突变的肥厚型心肌病致病基因mybpc3及其应用 Download PDFInfo
- Publication number
- CN114107312A CN114107312A CN202111344486.7A CN202111344486A CN114107312A CN 114107312 A CN114107312 A CN 114107312A CN 202111344486 A CN202111344486 A CN 202111344486A CN 114107312 A CN114107312 A CN 114107312A
- Authority
- CN
- China
- Prior art keywords
- val
- ala
- glu
- gly
- leu
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Granted
Links
Images
Classifications
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
- C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Landscapes
- Chemical & Material Sciences (AREA)
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Analytical Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Biochemistry (AREA)
- Biophysics (AREA)
- Engineering & Computer Science (AREA)
- Wood Science & Technology (AREA)
- Molecular Biology (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Biotechnology (AREA)
- Physics & Mathematics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- Pathology (AREA)
- Toxicology (AREA)
- Gastroenterology & Hepatology (AREA)
- Medicinal Chemistry (AREA)
- Peptides Or Proteins (AREA)
Abstract
本发明涉及人类遗传学和内科心血管技术领域，具体涉及了突变的肥厚型心肌病致病基因MYBPC3，与野生型MYBPC3基因编码DNA的参考序列相比，突变的肥厚型心肌病致病基因MYBPC3的核苷酸序列为SEQ ID NO：7；在基因组位置chrl1∶47359044处，缺失碱基C；参考基因组版本是GRCh37。本发明还涉及上述突变的肥厚型心肌病致病基因MYBPC3在制备肥厚型心肌病检测试剂盒中的应用。本发明提供的肥厚型心肌病突变基因可以作为临床辅助诊断的生物标志物；检测该变异的携带者，为受试者提供优生优育指导和遗传咨询，减少患儿出生，对肥厚型心肌病的早期诊断，或者辅助临床判断具有重要意义。
Description
技术领域
本发明涉及人类遗传学和内科心血管技术领域，尤其涉及突变的肥厚型心肌病致病基因MYBPC3及其应用。
背景技术
1958年，Teare首先对“肥厚型心肌病(hypertrophic cardiomyopathy，HCM)”进行了详细描述，随后概念不断演变发展，确定肥厚型心肌病的基本特征是心肌肥厚及猝死发生率高。目前认为，HCM是一种以心肌肥厚为特征的心肌疾病，主要表现为左心室壁增厚，通常指二维超声心动图测量的室间隔或左心室壁厚度≥15mm，或者有明确家族史者厚度≥13mm，通常不伴有左心室腔的扩大，需排除负荷增加如高血压、主动脉瓣狭窄和先天性主动脉瓣下隔膜等引起的左心室壁增厚。
根据《中国成人肥厚型心肌病诊断与治疗指南(2017)》，绝大部分HCM呈常染色体显性遗传，具有明显的家族性，称家族性肥厚型心肌病(FHCM)，约60％的成年HCM患者可检测到明确的致病基因突变。分子遗传学研究证实，突变中，约有40％～60％为编码肌小节结构蛋白的基因突变，按照病因占比从大到小的顺序依次为MYBPC3(心脏型肌球蛋白结合蛋白C编码基因)、MYH7、TNNT2、TNNI3、TPM1和MYL3。
目前仍存在大量未知的MYBPC3基因突变位点，进一步发现新的MYBPC3基因的突变位点对于研究肥厚型心肌病的发病机制，对肥厚型心肌病的早期诊断，或者辅助临床判断具有重要意义。
发明内容
本发明的目的是针对肥厚型心肌病，提供一种突变的肥厚型心肌病致病基因MYBPC3及其应用。
本发明提供的技术方案如下：
一、本发明提供突变的肥厚型心肌病致病基因MYBPC3，与野生型MYBPC3基因编码DNA的参考序列相比，突变的肥厚型心肌病致病基因MYBPC3的核苷酸序列为SEQ ID NO：7；在基因组位置chr11：47359044处，缺失碱基C；参考基因组版本是GRCh37。
二、本发明还提供了上述突变的肥厚型心肌病致病基因MYBPC3在制备肥厚型心肌病检测试剂盒中的应用。
优选地，所述肥厚型心肌病检测试剂盒包括引物SEQ ID NO：5和SEQ ID NO：6。
优选地，所述肥厚型心肌病检测试剂盒还包括Taq DNA聚合酶和PCR缓冲液。
三、本发明的原理和有益效果在于：
本发明公开的突变的肥厚型心肌病致病基因MYBPC3可以作为临床辅助诊断肥厚型心肌病的生物标志物，对肥厚型心肌病的早期诊断，或者辅助临床判断具有重要意义；基于肥厚型心肌病突变基因开发的检测试剂盒，可以检测出具有肥厚型心肌病突变基因的患者，为受试者提供优生优育指导和遗传咨询，减少患儿出生。
附图说明
图1为实施例3的家系图；
图2为实施例3中先证者、先证者女儿、先证者母亲等人的Sanger测序图；
图3为实施例3家系中先证者父亲、先证者妻子等的Sanger测序图。
具体实施方式
下面通过具体实施方式进一步详细说明：
实施例1-突变的肥厚型心肌病致病基因MYBPC3
突变的肥厚型心肌病致病基因MYBPC3，具体突变如下表1所示：
表1肥厚型心肌病突变基因的具体检测结果
| 基因 | 基因组位置 | 转录本号 | 碱基改变 | 氨基酸改变 | 参考基因组版本 | 外显子号 |
| MYBPC3 | chr11：47359044 | NM_000256 | c.2500delC | p.Arg835GlyfsTer2 | GRCh37/hg19 | Exon24 |
(1)在基因组位置chr11：47359010-chr11：47359059处，野生型MYBPC3基因的序列为SEQ ID NO：1：CTGAGTCATGAAGCGCGGCGCATGATCGAGGGCGTGGTGTACGAGATGCG，C为基因组位置chr11：47359044处突变前碱基；
在基因组位置chr11：47359010-chr11：47359058处，肥厚型心肌病突变基因的序列为SEQ ID NO：2：CTGAGTCATGAAGCGGGCGCATGATCGAGGGCGTGGTGTACGAGATGCG。
(2)野生型MYBPC3基因编码DNA的参考序列为SEQ ID NO：3：
c.2500delC表示：与野生型MYBPC3基因编码DNA的参考序列相比，突变的肥厚型心肌病致病基因MYBPC3的第2500位点的碱基C缺失。突变的肥厚型心肌病致病基因MYBPC3的核苷酸序列为SEQ ID NO：7。
(4)野生型MYBPC3基因编码蛋白为SEQ ID NO：4：
p.Arg835GlyfsTer2表示：第835位的精氨酸(Arg，R)突变为甘氨酸(Gly，G)，并且在其后的第2位出现终止密码子，可能会引起蛋白质的截短表达。突变的肥厚型心肌病致病基因MYBPC3编码蛋白的氨基酸序列为SEQ ID NO：8。
实施例2-突变的肥厚型心肌病致病基因MYBPC3的肥厚型心肌病检测试剂盒
突变的肥厚型心肌病致病基因MYBPC3的肥厚型心肌病检测试剂盒，包括Taq DNA聚合酶、PCR缓冲液和引物等。
具体引物如下：
上游引物(MYBPC3-E24&25F，SEQ ID NO：5)：5′TGGCGGTTAGTTGGAGTGG3′；
下游引物(MYBPC3-E24&25R，SEQ ID NO：6)：5′GGAGCCTGTTTCCTCATCTGTA 3′；
长度：663bp。
利用本试剂盒筛选突变的致病基因MYBPC3的具体步骤为：提取待测者DNA，然后使用经设计的引物组合(SEQ ID NO：5和SEQ ID NO：6)对MYBPC3基因进行扩增，得到PCR产物，使用1.5％的琼脂糖凝胶电泳检测PCR产物，选用1000bp Marker作为参考，检测验证扩增产物为预期的大小，最后对PCR产物进行测序。从NCBI(https：//www.ncbi.nlm.nih.gov/)数据库获得参考序列和测序结果进行比对，判断待测者MYBPC3基因是否携带c.2500delC杂合错义变异，协助临床确诊待测者是否患有具有c.2500delC MYBPC3基因突变的患者。
实施例3-家系验证实验
本实施例采用家系连锁分析方法验证突变的肥厚型心肌病致病基因MYBPC3的致病性。
具体地，选取一个家族性肥厚型心肌病(FHCM)家系中的三代成员，该家系中的先证者(男，32岁)在中国医学科学院阜外医院就诊，临床被诊断为肥厚型心肌病。
在先证者及其家属自愿签署知情同意书的前提下，寄送5-10mL全血样本，建立病历资料库，详细记录先证者病情、家系情况等资料。本研究已得到本单位伦理委员会批准。
先证者病史描述：
表3先证者病史
采用实施例2提供的体外检测试剂盒对先证者及其家属的MYBPC3基因进行基因检测，结果如图1-图3所示，图1为实施例3的家系图；图2为实施例3中先证者、先证者女儿、先证者母亲等人的Sanger测序图；图3为实施例3家系中先证者父亲、先证者妻子等的Sanger测序图。
如图1-图3所示，家系中临床诊断出肥厚型心肌病的先证者、先证者女儿、先证者母亲等人均携带了突变的MYBPC3基因，而未患有肥厚型心肌病的家系成员均未携带突变的MYBPC3基因，由此验证可以说明突变的MYBPC3基因对肥厚型心肌病的致病性。
实施例4-针对家系外正常人的验证实验
采用实施例2的肥厚型心肌病检测试剂盒，对1000例家系外正常人进行MYBPC3基因检测，结果均未能检测到该突变。
实施例5-针对家系外家族遗传性肺动脉高压患者的验证实验
在中国范围内，对患有肥厚型心肌病、家族遗传性肺动脉高压、扩张型心肌病、长QT等单基因常染色体显性遗传病的患者中检测MYBPC3基因，患者总共2300例，每种疾病的患病人数不等，结果显示，除实施例3提供的家系外，仅在临床诊断患有肥厚型心肌病的3例患者中检测到突变MYBPC3基因。
本实验再次验证说明突变的MYBPC3致病基因的会导致肥厚型心肌病，支持临床诊断。
以上详细描述了本发明的较佳具体实施例。应当理解，本领域的普通技术人员无需创造性劳动就可以根据本发明的构思作出诸多修改和变化。因此，凡本技术领域中技术人员依本发明的构思在现有技术的基础上通过逻辑分析、推理或者有限的实验可以得到的技术方案，皆应在由权利要求书所确定的保护范围内。
序列表
<110> 江苏百世诺医疗科技有限公司
<120> 突变的肥厚型心肌病致病基因MYBPC3及其应用
<160> 8
<170> SIPOSequenceListing 1.0
<210> 1
<211> 50
<212> DNA
<213> homo sapiens
<400> 1
ctgagtcatg aagcgcggcg catgatcgag ggcgtggtgt acgagatgcg 50
<210> 2
<211> 49
<212> DNA
<213> homo sapiens
<400> 2
ctgagtcatg aagcgggcgc atgatcgagg gcgtggtgta cgagatgcg 49
<210> 3
<211> 3825
<212> DNA
<213> homo sapiens
<400> 3
atgcctgagc cggggaagaa gccagtctca gcttttagca agaagccacg gtcagtggaa 60
gtggccgcag gcagccctgc cgtgttcgag gccgagacag agcgggcagg agtgaaggtg 120
cgctggcagc gcggaggcag tgacatcagc gccagcaaca agtacggcct ggccacagag 180
ggcacacggc atacgctgac agtgcgggaa gtgggccctg ccgaccaggg atcttacgca 240
gtcattgctg gctcctccaa ggtcaagttc gacctcaagg tcatagaggc agagaaggca 300
gagcccatgc tggcccctgc ccctgcccct gctgaggcca ctggagcccc tggagaagcc 360
ccggccccag ccgctgagct gggagaaagt gccccaagtc ccaaagggtc aagctcagca 420
gctctcaatg gtcctacccc tggagccccc gatgacccca ttggcctctt cgtgatgcgg 480
ccacaggatg gcgaggtgac cgtgggtggc agcatcacct tctcagcccg cgtggccggc 540
gccagcctcc tgaagccgcc tgtggtcaag tggttcaagg gcaaatgggt ggacctgagc 600
agcaaggtgg gccagcacct gcagctgcac gacagctacg accgcgccag caaggtctat 660
ctgttcgagc tgcacatcac cgatgcccag cctgccttca ctggcagcta ccgctgtgag 720
gtgtccacca aggacaaatt tgactgctcc aacttcaatc tcactgtcca cgaggccatg 780
ggcaccggag acctggacct cctatcagcc ttccgccgca cgagcctggc tggaggtggt 840
cggcggatca gtgatagcca tgaggacact gggattctgg acttcagctc actgctgaaa 900
aagagagaca gtttccggac cccgagggac tcgaagctgg aggcaccagc agaggaggac 960
gtgtgggaga tcctacggca ggcaccccca tctgagtacg agcgcatcgc cttccagtac 1020
ggcgtcactg acctgcgcgg catgctaaag aggctcaagg gcatgaggcg cgatgagaag 1080
aagagcacag cctttcagaa gaagctggag ccggcctacc aggtgagcaa aggccacaag 1140
atccggctga ccgtggaact ggctgaccat gacgctgagg tcaaatggct caagaatggc 1200
caggagatcc agatgagcgg cagcaagtac atctttgagt ccatcggtgc caagcgtacc 1260
ctgaccatca gccagtgctc attggcggac gacgcagcct accagtgcgt ggtgggtggc 1320
gagaagtgta gcacggagct ctttgtgaaa gagccccctg tgctcatcac gcgccccttg 1380
gaggaccagc tggtgatggt ggggcagcgg gtggagtttg agtgtgaagt atcggaggag 1440
ggggcgcaag tcaaatggct gaaggacggg gtggagctga cccgggagga gaccttcaaa 1500
taccggttca agaaggacgg gcagagacac cacctgatca tcaacgaggc catgctggag 1560
gacgcggggc actatgcact gtgcactagc gggggccagg cgctggctga gctcattgtg 1620
caggaaaaga agctggaggt gtaccagagc atcgcagacc tgatggtggg cgcaaaggac 1680
caggcggtgt tcaaatgtga ggtctcagat gagaatgttc ggggtgtgtg gctgaagaat 1740
gggaaggagc tggtgcccga cagccgcata aaggtgtccc acatcgggcg ggtccacaaa 1800
ctgaccattg acgacgtcac acctgccgac gaggctgact acagctttgt gcccgagggc 1860
ttcgcctgca acctgtcagc caagctccac ttcatggagg tcaagattga cttcgtaccc 1920
aggcaggaac ctcccaagat ccacctggac tgcccaggcc gcataccaga caccattgtg 1980
gttgtagctg gaaataagct acgtctggac gtccctatct ctggggaccc tgctcccact 2040
gtgatctggc agaaggctat cacgcagggg aataaggccc cagccaggcc agccccagat 2100
gccccagagg acacaggtga cagcgatgag tgggtgtttg acaagaagct gctgtgtgag 2160
accgagggcc gggtccgcgt ggagaccacc aaggaccgca gcatcttcac ggtcgagggg 2220
gcagagaagg aagatgaggg cgtctacacg gtcacagtga agaaccctgt gggcgaggac 2280
caggtcaacc tcacagtcaa ggtcatcgac gtgccagacg cacctgcggc ccccaagatc 2340
agcaacgtgg gagaggactc ctgcacagta cagtgggagc cgcctgccta cgatggcggg 2400
cagcccatcc tgggctacat cctggagcgc aagaagaaga agagctaccg gtggatgcgg 2460
ctgaacttcg acctgattca ggagctgagt catgaagcgc ggcgcatgat cgagggcgtg 2520
gtgtacgaga tgcgcgtcta cgcggtcaac gccatcggca tgtccaggcc cagccctgcc 2580
tcccagccct tcatgcctat cggtcccccc agcgaaccca cccacctggc agtagaggac 2640
gtctctgaca ccacggtctc cctcaagtgg cggcccccag agcgcgtggg agcaggaggc 2700
ctggatggct acagcgtgga gtactgccca gagggctgct cagagtgggt ggctgccctg 2760
caggggctga cagagcacac atcgatactg gtgaaggacc tgcccacggg ggcccggctg 2820
cttttccgag tgcgggcaca caatatggca gggcctggag cccctgttac caccacggag 2880
ccggtgacag tgcaggagat cctgcaacgg ccacggcttc agctgcccag gcacctgcgc 2940
cagaccattc agaagaaggt cggggagcct gtgaaccttc tcatcccttt ccagggcaag 3000
ccccggcctc aggtgacctg gaccaaagag gggcagcccc tggcaggcga ggaggtgagc 3060
atccgcaaca gccccacaga caccatcctg ttcatccggg ccgctcgccg cgtgcattca 3120
ggcacttacc aggtgacggt gcgcattgag aacatggagg acaaggccac gctggtgctg 3180
caggttgttg acaagccaag tcctccccag gatctccggg tgactgacgc ctggggtctt 3240
aatgtggctc tggagtggaa gccaccccag gatgtcggca acacggagct ctgggggtac 3300
acagtgcaga aagccgacaa gaagaccatg gagtggttca ccgtcttgga gcattaccgc 3360
cgcacccact gcgtggtgcc agagctcatc attggcaatg gctactactt ccgcgtcttc 3420
agccagaata tggttggctt tagtgacaga gcggccacca ccaaggagcc cgtctttatc 3480
cccagaccag gcatcaccta tgagccaccc aactataagg ccctggactt ctccgaggcc 3540
ccaagcttca cccagcccct ggtgaaccgc tcggtcatcg cgggctacac tgctatgctc 3600
tgctgtgctg tccggggtag ccccaagccc aagatttcct ggttcaagaa tggcctggac 3660
ctgggagaag acgcccgctt ccgcatgttc agcaagcagg gagtgttgac tctggagatt 3720
agaaagccct gcccctttga cgggggcatc tatgtctgca gggccaccaa cttacagggc 3780
gaggcacggt gtgagtgccg cctggaggtg cgagtgcctc agtga 3825
<210> 4
<211> 1274
<212> PRT
<213> homo sapiens
<400> 4
Met Pro Glu Pro Gly Lys Lys Pro Val Ser Ala Phe Ser Lys Lys Pro
1 5 10 15
Arg Ser Val Glu Val Ala Ala Gly Ser Pro Ala Val Phe Glu Ala Glu
20 25 30
Thr Glu Arg Ala Gly Val Lys Val Arg Trp Gln Arg Gly Gly Ser Asp
35 40 45
Ile Ser Ala Ser Asn Lys Tyr Gly Leu Ala Thr Glu Gly Thr Arg His
50 55 60
Thr Leu Thr Val Arg Glu Val Gly Pro Ala Asp Gln Gly Ser Tyr Ala
65 70 75 80
Val Ile Ala Gly Ser Ser Lys Val Lys Phe Asp Leu Lys Val Ile Glu
85 90 95
Ala Glu Lys Ala Glu Pro Met Leu Ala Pro Ala Pro Ala Pro Ala Glu
100 105 110
Ala Thr Gly Ala Pro Gly Glu Ala Pro Ala Pro Ala Ala Glu Leu Gly
115 120 125
Glu Ser Ala Pro Ser Pro Lys Gly Ser Ser Ser Ala Ala Leu Asn Gly
130 135 140
Pro Thr Pro Gly Ala Pro Asp Asp Pro Ile Gly Leu Phe Val Met Arg
145 150 155 160
Pro Gln Asp Gly Glu Val Thr Val Gly Gly Ser Ile Thr Phe Ser Ala
165 170 175
Arg Val Ala Gly Ala Ser Leu Leu Lys Pro Pro Val Val Lys Trp Phe
180 185 190
Lys Gly Lys Trp Val Asp Leu Ser Ser Lys Val Gly Gln His Leu Gln
195 200 205
Leu His Asp Ser Tyr Asp Arg Ala Ser Lys Val Tyr Leu Phe Glu Leu
210 215 220
His Ile Thr Asp Ala Gln Pro Ala Phe Thr Gly Ser Tyr Arg Cys Glu
225 230 235 240
Val Ser Thr Lys Asp Lys Phe Asp Cys Ser Asn Phe Asn Leu Thr Val
245 250 255
His Glu Ala Met Gly Thr Gly Asp Leu Asp Leu Leu Ser Ala Phe Arg
260 265 270
Arg Thr Ser Leu Ala Gly Gly Gly Arg Arg Ile Ser Asp Ser His Glu
275 280 285
Asp Thr Gly Ile Leu Asp Phe Ser Ser Leu Leu Lys Lys Arg Asp Ser
290 295 300
Phe Arg Thr Pro Arg Asp Ser Lys Leu Glu Ala Pro Ala Glu Glu Asp
305 310 315 320
Val Trp Glu Ile Leu Arg Gln Ala Pro Pro Ser Glu Tyr Glu Arg Ile
325 330 335
Ala Phe Gln Tyr Gly Val Thr Asp Leu Arg Gly Met Leu Lys Arg Leu
340 345 350
Lys Gly Met Arg Arg Asp Glu Lys Lys Ser Thr Ala Phe Gln Lys Lys
355 360 365
Leu Glu Pro Ala Tyr Gln Val Ser Lys Gly His Lys Ile Arg Leu Thr
370 375 380
Val Glu Leu Ala Asp His Asp Ala Glu Val Lys Trp Leu Lys Asn Gly
385 390 395 400
Gln Glu Ile Gln Met Ser Gly Ser Lys Tyr Ile Phe Glu Ser Ile Gly
405 410 415
Ala Lys Arg Thr Leu Thr Ile Ser Gln Cys Ser Leu Ala Asp Asp Ala
420 425 430
Ala Tyr Gln Cys Val Val Gly Gly Glu Lys Cys Ser Thr Glu Leu Phe
435 440 445
Val Lys Glu Pro Pro Val Leu Ile Thr Arg Pro Leu Glu Asp Gln Leu
450 455 460
Val Met Val Gly Gln Arg Val Glu Phe Glu Cys Glu Val Ser Glu Glu
465 470 475 480
Gly Ala Gln Val Lys Trp Leu Lys Asp Gly Val Glu Leu Thr Arg Glu
485 490 495
Glu Thr Phe Lys Tyr Arg Phe Lys Lys Asp Gly Gln Arg His His Leu
500 505 510
Ile Ile Asn Glu Ala Met Leu Glu Asp Ala Gly His Tyr Ala Leu Cys
515 520 525
Thr Ser Gly Gly Gln Ala Leu Ala Glu Leu Ile Val Gln Glu Lys Lys
530 535 540
Leu Glu Val Tyr Gln Ser Ile Ala Asp Leu Met Val Gly Ala Lys Asp
545 550 555 560
Gln Ala Val Phe Lys Cys Glu Val Ser Asp Glu Asn Val Arg Gly Val
565 570 575
Trp Leu Lys Asn Gly Lys Glu Leu Val Pro Asp Ser Arg Ile Lys Val
580 585 590
Ser His Ile Gly Arg Val His Lys Leu Thr Ile Asp Asp Val Thr Pro
595 600 605
Ala Asp Glu Ala Asp Tyr Ser Phe Val Pro Glu Gly Phe Ala Cys Asn
610 615 620
Leu Ser Ala Lys Leu His Phe Met Glu Val Lys Ile Asp Phe Val Pro
625 630 635 640
Arg Gln Glu Pro Pro Lys Ile His Leu Asp Cys Pro Gly Arg Ile Pro
645 650 655
Asp Thr Ile Val Val Val Ala Gly Asn Lys Leu Arg Leu Asp Val Pro
660 665 670
Ile Ser Gly Asp Pro Ala Pro Thr Val Ile Trp Gln Lys Ala Ile Thr
675 680 685
Gln Gly Asn Lys Ala Pro Ala Arg Pro Ala Pro Asp Ala Pro Glu Asp
690 695 700
Thr Gly Asp Ser Asp Glu Trp Val Phe Asp Lys Lys Leu Leu Cys Glu
705 710 715 720
Thr Glu Gly Arg Val Arg Val Glu Thr Thr Lys Asp Arg Ser Ile Phe
725 730 735
Thr Val Glu Gly Ala Glu Lys Glu Asp Glu Gly Val Tyr Thr Val Thr
740 745 750
Val Lys Asn Pro Val Gly Glu Asp Gln Val Asn Leu Thr Val Lys Val
755 760 765
Ile Asp Val Pro Asp Ala Pro Ala Ala Pro Lys Ile Ser Asn Val Gly
770 775 780
Glu Asp Ser Cys Thr Val Gln Trp Glu Pro Pro Ala Tyr Asp Gly Gly
785 790 795 800
Gln Pro Ile Leu Gly Tyr Ile Leu Glu Arg Lys Lys Lys Lys Ser Tyr
805 810 815
Arg Trp Met Arg Leu Asn Phe Asp Leu Ile Gln Glu Leu Ser His Glu
820 825 830
Ala Arg Arg Met Ile Glu Gly Val Val Tyr Glu Met Arg Val Tyr Ala
835 840 845
Val Asn Ala Ile Gly Met Ser Arg Pro Ser Pro Ala Ser Gln Pro Phe
850 855 860
Met Pro Ile Gly Pro Pro Ser Glu Pro Thr His Leu Ala Val Glu Asp
865 870 875 880
Val Ser Asp Thr Thr Val Ser Leu Lys Trp Arg Pro Pro Glu Arg Val
885 890 895
Gly Ala Gly Gly Leu Asp Gly Tyr Ser Val Glu Tyr Cys Pro Glu Gly
900 905 910
Cys Ser Glu Trp Val Ala Ala Leu Gln Gly Leu Thr Glu His Thr Ser
915 920 925
Ile Leu Val Lys Asp Leu Pro Thr Gly Ala Arg Leu Leu Phe Arg Val
930 935 940
Arg Ala His Asn Met Ala Gly Pro Gly Ala Pro Val Thr Thr Thr Glu
945 950 955 960
Pro Val Thr Val Gln Glu Ile Leu Gln Arg Pro Arg Leu Gln Leu Pro
965 970 975
Arg His Leu Arg Gln Thr Ile Gln Lys Lys Val Gly Glu Pro Val Asn
980 985 990
Leu Leu Ile Pro Phe Gln Gly Lys Pro Arg Pro Gln Val Thr Trp Thr
995 1000 1005
Lys Glu Gly Gln Pro Leu Ala Gly Glu Glu Val Ser Ile Arg Asn Ser
1010 1015 1020
Pro Thr Asp Thr Ile Leu Phe Ile Arg Ala Ala Arg Arg Val His Ser
1025 1030 1035 1040
Gly Thr Tyr Gln Val Thr Val Arg Ile Glu Asn Met Glu Asp Lys Ala
1045 1050 1055
Thr Leu Val Leu Gln Val Val Asp Lys Pro Ser Pro Pro Gln Asp Leu
1060 1065 1070
Arg Val Thr Asp Ala Trp Gly Leu Asn Val Ala Leu Glu Trp Lys Pro
1075 1080 1085
Pro Gln Asp Val Gly Asn Thr Glu Leu Trp Gly Tyr Thr Val Gln Lys
1090 1095 1100
Ala Asp Lys Lys Thr Met Glu Trp Phe Thr Val Leu Glu His Tyr Arg
1105 1110 1115 1120
Arg Thr His Cys Val Val Pro Glu Leu Ile Ile Gly Asn Gly Tyr Tyr
1125 1130 1135
Phe Arg Val Phe Ser Gln Asn Met Val Gly Phe Ser Asp Arg Ala Ala
1140 1145 1150
Thr Thr Lys Glu Pro Val Phe Ile Pro Arg Pro Gly Ile Thr Tyr Glu
1155 1160 1165
Pro Pro Asn Tyr Lys Ala Leu Asp Phe Ser Glu Ala Pro Ser Phe Thr
1170 1175 1180
Gln Pro Leu Val Asn Arg Ser Val Ile Ala Gly Tyr Thr Ala Met Leu
1185 1190 1195 1200
Cys Cys Ala Val Arg Gly Ser Pro Lys Pro Lys Ile Ser Trp Phe Lys
1205 1210 1215
Asn Gly Leu Asp Leu Gly Glu Asp Ala Arg Phe Arg Met Phe Ser Lys
1220 1225 1230
Gln Gly Val Leu Thr Leu Glu Ile Arg Lys Pro Cys Pro Phe Asp Gly
1235 1240 1245
Gly Ile Tyr Val Cys Arg Ala Thr Asn Leu Gln Gly Glu Ala Arg Cys
1250 1255 1260
Glu Cys Arg Leu Glu Val Arg Val Pro Gln
1265 1270
<210> 5
<211> 19
<212> DNA
<213> homo sapiens
<400> 5
tggcggttag ttggagtgg 19
<210> 6
<211> 22
<212> DNA
<213> homo sapiens
<400> 6
ggagcctgtt tcctcatctg ta 22
<210> 7
<211> 2508
<212> DNA
<213> homo sapiens
<400> 7
atgcctgagc cggggaagaa gccagtctca gcttttagca agaagccacg gtcagtggaa 60
gtggccgcag gcagccctgc cgtgttcgag gccgagacag agcgggcagg agtgaaggtg 120
cgctggcagc gcggaggcag tgacatcagc gccagcaaca agtacggcct ggccacagag 180
ggcacacggc atacgctgac agtgcgggaa gtgggccctg ccgaccaggg atcttacgca 240
gtcattgctg gctcctccaa ggtcaagttc gacctcaagg tcatagaggc agagaaggca 300
gagcccatgc tggcccctgc ccctgcccct gctgaggcca ctggagcccc tggagaagcc 360
ccggccccag ccgctgagct gggagaaagt gccccaagtc ccaaagggtc aagctcagca 420
gctctcaatg gtcctacccc tggagccccc gatgacccca ttggcctctt cgtgatgcgg 480
ccacaggatg gcgaggtgac cgtgggtggc agcatcacct tctcagcccg cgtggccggc 540
gccagcctcc tgaagccgcc tgtggtcaag tggttcaagg gcaaatgggt ggacctgagc 600
agcaaggtgg gccagcacct gcagctgcac gacagctacg accgcgccag caaggtctat 660
ctgttcgagc tgcacatcac cgatgcccag cctgccttca ctggcagcta ccgctgtgag 720
gtgtccacca aggacaaatt tgactgctcc aacttcaatc tcactgtcca cgaggccatg 780
ggcaccggag acctggacct cctatcagcc ttccgccgca cgagcctggc tggaggtggt 840
cggcggatca gtgatagcca tgaggacact gggattctgg acttcagctc actgctgaaa 900
aagagagaca gtttccggac cccgagggac tcgaagctgg aggcaccagc agaggaggac 960
gtgtgggaga tcctacggca ggcaccccca tctgagtacg agcgcatcgc cttccagtac 1020
ggcgtcactg acctgcgcgg catgctaaag aggctcaagg gcatgaggcg cgatgagaag 1080
aagagcacag cctttcagaa gaagctggag ccggcctacc aggtgagcaa aggccacaag 1140
atccggctga ccgtggaact ggctgaccat gacgctgagg tcaaatggct caagaatggc 1200
caggagatcc agatgagcgg cagcaagtac atctttgagt ccatcggtgc caagcgtacc 1260
ctgaccatca gccagtgctc attggcggac gacgcagcct accagtgcgt ggtgggtggc 1320
gagaagtgta gcacggagct ctttgtgaaa gagccccctg tgctcatcac gcgccccttg 1380
gaggaccagc tggtgatggt ggggcagcgg gtggagtttg agtgtgaagt atcggaggag 1440
ggggcgcaag tcaaatggct gaaggacggg gtggagctga cccgggagga gaccttcaaa 1500
taccggttca agaaggacgg gcagagacac cacctgatca tcaacgaggc catgctggag 1560
gacgcggggc actatgcact gtgcactagc gggggccagg cgctggctga gctcattgtg 1620
caggaaaaga agctggaggt gtaccagagc atcgcagacc tgatggtggg cgcaaaggac 1680
caggcggtgt tcaaatgtga ggtctcagat gagaatgttc ggggtgtgtg gctgaagaat 1740
gggaaggagc tggtgcccga cagccgcata aaggtgtccc acatcgggcg ggtccacaaa 1800
ctgaccattg acgacgtcac acctgccgac gaggctgact acagctttgt gcccgagggc 1860
ttcgcctgca acctgtcagc caagctccac ttcatggagg tcaagattga cttcgtaccc 1920
aggcaggaac ctcccaagat ccacctggac tgcccaggcc gcataccaga caccattgtg 1980
gttgtagctg gaaataagct acgtctggac gtccctatct ctggggaccc tgctcccact 2040
gtgatctggc agaaggctat cacgcagggg aataaggccc cagccaggcc agccccagat 2100
gccccagagg acacaggtga cagcgatgag tgggtgtttg acaagaagct gctgtgtgag 2160
accgagggcc gggtccgcgt ggagaccacc aaggaccgca gcatcttcac ggtcgagggg 2220
gcagagaagg aagatgaggg cgtctacacg gtcacagtga agaaccctgt gggcgaggac 2280
caggtcaacc tcacagtcaa ggtcatcgac gtgccagacg cacctgcggc ccccaagatc 2340
agcaacgtgg gagaggactc ctgcacagta cagtgggagc cgcctgccta cgatggcggg 2400
cagcccatcc tgggctacat cctggagcgc aagaagaaga agagctaccg gtggatgcgg 2460
ctgaacttcg acctgattca ggagctgagt catgaagcgg gcgcatga 2508
<210> 8
<211> 835
<212> PRT
<213> homo sapiens
<400> 8
Met Pro Glu Pro Gly Lys Lys Pro Val Ser Ala Phe Ser Lys Lys Pro
1 5 10 15
Arg Ser Val Glu Val Ala Ala Gly Ser Pro Ala Val Phe Glu Ala Glu
20 25 30
Thr Glu Arg Ala Gly Val Lys Val Arg Trp Gln Arg Gly Gly Ser Asp
35 40 45
Ile Ser Ala Ser Asn Lys Tyr Gly Leu Ala Thr Glu Gly Thr Arg His
50 55 60
Thr Leu Thr Val Arg Glu Val Gly Pro Ala Asp Gln Gly Ser Tyr Ala
65 70 75 80
Val Ile Ala Gly Ser Ser Lys Val Lys Phe Asp Leu Lys Val Ile Glu
85 90 95
Ala Glu Lys Ala Glu Pro Met Leu Ala Pro Ala Pro Ala Pro Ala Glu
100 105 110
Ala Thr Gly Ala Pro Gly Glu Ala Pro Ala Pro Ala Ala Glu Leu Gly
115 120 125
Glu Ser Ala Pro Ser Pro Lys Gly Ser Ser Ser Ala Ala Leu Asn Gly
130 135 140
Pro Thr Pro Gly Ala Pro Asp Asp Pro Ile Gly Leu Phe Val Met Arg
145 150 155 160
Pro Gln Asp Gly Glu Val Thr Val Gly Gly Ser Ile Thr Phe Ser Ala
165 170 175
Arg Val Ala Gly Ala Ser Leu Leu Lys Pro Pro Val Val Lys Trp Phe
180 185 190
Lys Gly Lys Trp Val Asp Leu Ser Ser Lys Val Gly Gln His Leu Gln
195 200 205
Leu His Asp Ser Tyr Asp Arg Ala Ser Lys Val Tyr Leu Phe Glu Leu
210 215 220
His Ile Thr Asp Ala Gln Pro Ala Phe Thr Gly Ser Tyr Arg Cys Glu
225 230 235 240
Val Ser Thr Lys Asp Lys Phe Asp Cys Ser Asn Phe Asn Leu Thr Val
245 250 255
His Glu Ala Met Gly Thr Gly Asp Leu Asp Leu Leu Ser Ala Phe Arg
260 265 270
Arg Thr Ser Leu Ala Gly Gly Gly Arg Arg Ile Ser Asp Ser His Glu
275 280 285
Asp Thr Gly Ile Leu Asp Phe Ser Ser Leu Leu Lys Lys Arg Asp Ser
290 295 300
Phe Arg Thr Pro Arg Asp Ser Lys Leu Glu Ala Pro Ala Glu Glu Asp
305 310 315 320
Val Trp Glu Ile Leu Arg Gln Ala Pro Pro Ser Glu Tyr Glu Arg Ile
325 330 335
Ala Phe Gln Tyr Gly Val Thr Asp Leu Arg Gly Met Leu Lys Arg Leu
340 345 350
Lys Gly Met Arg Arg Asp Glu Lys Lys Ser Thr Ala Phe Gln Lys Lys
355 360 365
Leu Glu Pro Ala Tyr Gln Val Ser Lys Gly His Lys Ile Arg Leu Thr
370 375 380
Val Glu Leu Ala Asp His Asp Ala Glu Val Lys Trp Leu Lys Asn Gly
385 390 395 400
Gln Glu Ile Gln Met Ser Gly Ser Lys Tyr Ile Phe Glu Ser Ile Gly
405 410 415
Ala Lys Arg Thr Leu Thr Ile Ser Gln Cys Ser Leu Ala Asp Asp Ala
420 425 430
Ala Tyr Gln Cys Val Val Gly Gly Glu Lys Cys Ser Thr Glu Leu Phe
435 440 445
Val Lys Glu Pro Pro Val Leu Ile Thr Arg Pro Leu Glu Asp Gln Leu
450 455 460
Val Met Val Gly Gln Arg Val Glu Phe Glu Cys Glu Val Ser Glu Glu
465 470 475 480
Gly Ala Gln Val Lys Trp Leu Lys Asp Gly Val Glu Leu Thr Arg Glu
485 490 495
Glu Thr Phe Lys Tyr Arg Phe Lys Lys Asp Gly Gln Arg His His Leu
500 505 510
Ile Ile Asn Glu Ala Met Leu Glu Asp Ala Gly His Tyr Ala Leu Cys
515 520 525
Thr Ser Gly Gly Gln Ala Leu Ala Glu Leu Ile Val Gln Glu Lys Lys
530 535 540
Leu Glu Val Tyr Gln Ser Ile Ala Asp Leu Met Val Gly Ala Lys Asp
545 550 555 560
Gln Ala Val Phe Lys Cys Glu Val Ser Asp Glu Asn Val Arg Gly Val
565 570 575
Trp Leu Lys Asn Gly Lys Glu Leu Val Pro Asp Ser Arg Ile Lys Val
580 585 590
Ser His Ile Gly Arg Val His Lys Leu Thr Ile Asp Asp Val Thr Pro
595 600 605
Ala Asp Glu Ala Asp Tyr Ser Phe Val Pro Glu Gly Phe Ala Cys Asn
610 615 620
Leu Ser Ala Lys Leu His Phe Met Glu Val Lys Ile Asp Phe Val Pro
625 630 635 640
Arg Gln Glu Pro Pro Lys Ile His Leu Asp Cys Pro Gly Arg Ile Pro
645 650 655
Asp Thr Ile Val Val Val Ala Gly Asn Lys Leu Arg Leu Asp Val Pro
660 665 670
Ile Ser Gly Asp Pro Ala Pro Thr Val Ile Trp Gln Lys Ala Ile Thr
675 680 685
Gln Gly Asn Lys Ala Pro Ala Arg Pro Ala Pro Asp Ala Pro Glu Asp
690 695 700
Thr Gly Asp Ser Asp Glu Trp Val Phe Asp Lys Lys Leu Leu Cys Glu
705 710 715 720
Thr Glu Gly Arg Val Arg Val Glu Thr Thr Lys Asp Arg Ser Ile Phe
725 730 735
Thr Val Glu Gly Ala Glu Lys Glu Asp Glu Gly Val Tyr Thr Val Thr
740 745 750
Val Lys Asn Pro Val Gly Glu Asp Gln Val Asn Leu Thr Val Lys Val
755 760 765
Ile Asp Val Pro Asp Ala Pro Ala Ala Pro Lys Ile Ser Asn Val Gly
770 775 780
Glu Asp Ser Cys Thr Val Gln Trp Glu Pro Pro Ala Tyr Asp Gly Gly
785 790 795 800
Gln Pro Ile Leu Gly Tyr Ile Leu Glu Arg Lys Lys Lys Lys Ser Tyr
805 810 815
Arg Trp Met Arg Leu Asn Phe Asp Leu Ile Gln Glu Leu Ser His Glu
820 825 830
Ala Gly Ala
835
Claims (4)
1.突变的肥厚型心肌病致病基因MYBPC3，其特征在于，与野生型MYBPC3基因编码DNA的参考序列相比，突变的肥厚型心肌病致病基因MYBPC3的核苷酸序列为SEQ ID NO：7；在基因组位置chr11：47359044处，缺失碱基C；参考基因组版本是GRCh37。
2.根据权利要求1所述的突变的肥厚型心肌病致病基因MYBPC3在制备肥厚型心肌病检测试剂盒中的应用。
3.根据权利要求2所述的应用，其特征在于，所述肥厚型心肌病检测试剂盒包括引物SEQ ID NO：5和SEQ ID NO：6。
4.根据权利要求3所述的应用，其特征在于，所述肥厚型心肌病检测试剂盒还包括TaqDNA聚合酶和PCR缓冲液。
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN202111344486.7A CN114107312B (zh) | 2021-11-12 | 2021-11-12 | 突变的肥厚型心肌病致病基因mybpc3及其应用 |
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN202111344486.7A CN114107312B (zh) | 2021-11-12 | 2021-11-12 | 突变的肥厚型心肌病致病基因mybpc3及其应用 |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| CN114107312A true CN114107312A (zh) | 2022-03-01 |
| CN114107312B CN114107312B (zh) | 2022-07-22 |
Family
ID=80395984
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CN202111344486.7A Active CN114107312B (zh) | 2021-11-12 | 2021-11-12 | 突变的肥厚型心肌病致病基因mybpc3及其应用 |
Country Status (1)
| Country | Link |
|---|---|
| CN (1) | CN114107312B (zh) |
Cited By (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN115044590A (zh) * | 2022-06-30 | 2022-09-13 | 昆明理工大学 | p53基因突变体及其表达的蛋白在制备诊断和治疗肥厚型心肌病的药物中的应用 |
| CN115851751A (zh) * | 2022-12-21 | 2023-03-28 | 百世诺（北京）医疗科技有限公司 | 肥厚型心肌病变异基因tnnt2及其应用 |
Citations (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2009027695A1 (en) * | 2007-08-31 | 2009-03-05 | Scottish Health Innovations Limited | Genetic analysis |
| CN109486937A (zh) * | 2018-12-07 | 2019-03-19 | 北京安智因生物技术有限公司 | 一种遗传性肥厚型心肌病的基因检测文库的构建方法及其试剂盒 |
| CN110846393A (zh) * | 2019-10-13 | 2020-02-28 | 郑州大学第一附属医院 | 一种影响人肥厚型心肌病诊治的mybpc3 g1831t突变及其应用 |
| CN111675759A (zh) * | 2020-07-15 | 2020-09-18 | 中南大学 | 肥厚性心肌病致病基因及其应用 |
| CN113430206A (zh) * | 2021-08-16 | 2021-09-24 | 百世诺（北京）医疗科技有限公司 | 一种mybpc3突变基因及肥厚型心肌病检测试剂盒 |
-
2021
- 2021-11-12 CN CN202111344486.7A patent/CN114107312B/zh active Active
Patent Citations (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2009027695A1 (en) * | 2007-08-31 | 2009-03-05 | Scottish Health Innovations Limited | Genetic analysis |
| CN109486937A (zh) * | 2018-12-07 | 2019-03-19 | 北京安智因生物技术有限公司 | 一种遗传性肥厚型心肌病的基因检测文库的构建方法及其试剂盒 |
| CN110846393A (zh) * | 2019-10-13 | 2020-02-28 | 郑州大学第一附属医院 | 一种影响人肥厚型心肌病诊治的mybpc3 g1831t突变及其应用 |
| CN111675759A (zh) * | 2020-07-15 | 2020-09-18 | 中南大学 | 肥厚性心肌病致病基因及其应用 |
| CN113430206A (zh) * | 2021-08-16 | 2021-09-24 | 百世诺（北京）医疗科技有限公司 | 一种mybpc3突变基因及肥厚型心肌病检测试剂盒 |
Non-Patent Citations (2)
| Title |
|---|
| ADAM S HELMS 等: "Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy", 《JCI INSIGHT》 * |
| 崔宏丽 等: "肥厚型心肌病致病基因型与临床表现的关系及基因筛查在肥厚型心肌病筛查及疾病鉴别诊断中的作用", 《中国循环杂志》 * |
Cited By (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN115044590A (zh) * | 2022-06-30 | 2022-09-13 | 昆明理工大学 | p53基因突变体及其表达的蛋白在制备诊断和治疗肥厚型心肌病的药物中的应用 |
| CN115044590B (zh) * | 2022-06-30 | 2023-08-15 | 昆明理工大学 | p53基因突变体及其表达的蛋白在制备诊断和治疗肥厚型心肌病的药物中的应用 |
| CN115851751A (zh) * | 2022-12-21 | 2023-03-28 | 百世诺（北京）医疗科技有限公司 | 肥厚型心肌病变异基因tnnt2及其应用 |
Also Published As
| Publication number | Publication date |
|---|---|
| CN114107312B (zh) | 2022-07-22 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| CN114107312B (zh) | 突变的肥厚型心肌病致病基因mybpc3及其应用 | |
| CN113981065A (zh) | 具有c.223dupG杂合错义的肥厚型心肌病致病基因MYBPC3及其应用 | |
| AU731856B2 (en) | Methods of screening for ulcerative colitis by detecting an interleukin-1 receptor antagonist polymorphism | |
| CN113981066A (zh) | 突变的扩张型心肌病致病基因ttn及其应用 | |
| CN110846393A (zh) | 一种影响人肥厚型心肌病诊治的mybpc3 g1831t突变及其应用 | |
| CN113957075B (zh) | 突变的遗传性心律失常基因及其应用 | |
| CN113832159A (zh) | 突变的家族遗传性肺动脉高压致病基因bmpr2及其应用 | |
| CN113980971B (zh) | 突变的马凡综合征致病基因fbn1及其应用 | |
| CN113969313A (zh) | 罕见遗传病突变基因及其应用 | |
| CN113913437B (zh) | 家族性胸主动脉瘤突变基因及其应用 | |
| CN113637674B (zh) | 一种LAMP2突变基因及突变体、以及Danon病检测试剂盒 | |
| CN113136387B (zh) | 早发冠心病相关基因及其检测试剂与应用 | |
| CN113699226A (zh) | 一种ttn突变基因及扩张型心肌病检测试剂盒 | |
| CN113881767B (zh) | 可导致心肌肥厚的突变基因及其应用 | |
| US20050074786A1 (en) | Method for determining susceptibility to heart disease by screening polymorphisms in the vitamin D receptor gene | |
| CN114085900B (zh) | 与遗传性肾小球疾病相关的突变基因及其应用 | |
| CN114032302B (zh) | 与肺动脉高压有关的突变基因及其应用 | |
| CN114214398B (zh) | 突变的fbn1基因及马凡氏综合征检测试剂盒 | |
| US20080187932A1 (en) | Single Nucleotide Polymorphisms in Protein-Tyrosine Phosphatase Receptor-Type Delta for the Diagnosis of Susceptibility to Infection and Asthma | |
| RU2779085C1 (ru) | Способ выявления предрасположенности к развитию метаболического синдрома в виде ожирения у школьников 7-10 лет | |
| CN113957138B (zh) | 与罕见遗传病有关的突变基因及其应用 | |
| CN113684216A (zh) | 基于突变的mybpc3基因的肥厚型心肌病检测试剂盒 | |
| CN116479111A (zh) | 一种先天性无瞳孔-小眼球-白内障综合征筛查方法、筛查试剂盒 | |
| CN115961027A (zh) | 肥厚型心肌病mybpc3变异基因及其应用 | |
| CN115806997A (zh) | 扩张型心肌病变异基因lama4及其应用 |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| PB01 | Publication | ||
| PB01 | Publication | ||
| SE01 | Entry into force of request for substantive examination | ||
| SE01 | Entry into force of request for substantive examination | ||
| GR01 | Patent grant | ||
| GR01 | Patent grant |