CN107267639B - Fbn1基因在制备检测先天性单纯性晶状体异位制品中的应用 - Google Patents
Fbn1基因在制备检测先天性单纯性晶状体异位制品中的应用 Download PDFInfo
- Publication number
- CN107267639B CN107267639B CN201710616310.XA CN201710616310A CN107267639B CN 107267639 B CN107267639 B CN 107267639B CN 201710616310 A CN201710616310 A CN 201710616310A CN 107267639 B CN107267639 B CN 107267639B
- Authority
- CN
- China
- Prior art keywords
- fbn1
- seq
- dna
- gene
- congenital
- 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.)
- Active
Links
Images
Classifications
-
- 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)
- Life Sciences & Earth Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Wood Science & Technology (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Engineering & Computer Science (AREA)
- Pathology (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Abstract
本发明的目的是提供一种FBN1基因在制备检测先天性单纯性晶状体异位诊断制品中的应用,本发明提供了FBN1基因的新的用途,从而提供了一种有效的进行先天性单纯性晶状体异位疾病基因诊断、产前基因筛查及遗传咨询的途径,应用效果表明本发明所提供的基因的SNP位点及检测引物可以有效的用于临床患者及胎儿绒毛或羊水进行FBN1基因突变位点的快速检测。
Description
技术领域
本发明属于基因诊断制品技术领域,具体涉及一种原纤维蛋白1(FBN1)在制备检测先天性单纯性晶状体异位基因诊断制品中的应用。
发明背景
先天性单纯性晶状体异位以晶状体悬韧带部分或全部缺损或离断,引起对晶状体的悬挂力不平衡或丧失,导致晶状体离开正常的生理位置为特征。有较明显的遗传倾向,多为常染色体显性遗传,少数为常染色体隐性遗传,常为双眼对称性发病。根据悬韧带缺损或离断的程度(部分或完全),晶状体异位分为不全脱位和全脱位。晶状体不全脱位产生的症状取决于晶状体移位的程度。如果晶状体的轴仍在视轴上,则仅出现由于悬韧带松弛、晶状体弯曲度增加引起的晶状体性近视。如果晶状体轴发生水平性、垂直性或斜性倾斜,可导致用眼镜或接触镜难以矫正的严重散光。更常见的不全脱位是晶状体纵向移位可出现单眼复视。晶状体全脱位比不全脱位后果更严重,晶状体完全离开瞳孔区后,视力相当于无晶状体眼视力,前房变深虹膜震颤,脱位的晶状体早期可随着体位的改变发生移动。如果晶状体脱入前房,则沉于变深的前房下方。晶状体通过瞳孔脱入前房过程中可发生瞳孔阻滞,引起急性青光眼。更常出现晶状体反复与角膜及虹膜睫状体接触引起严重的虹膜睫状体炎、角膜营养不良和急性青光眼。
晶状体异位的治疗是困难的。因为摘除异位的晶状体比一般白内障摘除风险大,盲目手术可能导致视力的损害甚至眼球的丧失。因此应慎重决定治疗方案。晶状体异位的治疗取决于晶状体的位置、晶状体的硬度、患眼的视力和对侧眼的视力、年龄、有无先天异常、有无出现并发症及手术的条件等。晶状体异位造成视力下降的原因是多方面的,如屈光间质混浊、继发性青光眼、先天性眼底异常等,因此晶状体摘除术后并不一定能改善视力。建立先天性单纯性晶状体异位的相关的基因突变检测系统,并应用于临床工作和优生优育,有助于遗传性先天性单纯性晶状体异位的基因诊断和相应的基因治疗,有助于突变基因携带者的检出,有助于通过产前检查降低疾病的发生率,有助于有效地控制这种疾病的发生。
发明内容
本发明的目的是提供一种FBN1基因在制备检测先天性单纯性晶状体异位诊断制品中的应用,从而弥补现有技术的不足。
申请人从一个4代呈常染色体显性遗传的先天性单纯性晶状体异位家系中,对该家系全部成员进行了FBN1基因的测序,找到了该家系的致病基因FBN1存在遗传上的致病突变,从而促成了本发明。
本发明首先提供FBN1基因新的用途,是在制备用于检测先天性单纯性晶状体异位诊断制品中的应用;
所述的检测,是用于检测FBN1基因上与先天性单纯性晶状体异位疾病相关的SNP位点,为FBN1基因c.2420(E21)至IVS20-8位的碱基。
上述的诊断制品,作为实施例的优选,是检测先天性单纯性晶状体异位的引物或探针。
所述的检测,是通过引物对扩增待检测的样品,进行测序确定是否存在上述的SNP位点;
所使用的引物对,其引物信息如下:
本发明还提供一种用于检测先天性单纯性晶状体异位的试剂盒,包含有上述的引物对中一种或以上。
其中用于检测上述SNP位点的引物信息如下:
FBN1-21-22F:AGCCCAGCTTTACTGTGTGG SEQ ID NO:39
FBN1-21-22R:TTTGACACTTCTTATTTCCCATTC SEQ ID NO:40。
本发明提供了FBN1基因的新的用途,从而提供了一种有效的进行先天性单纯性晶状体异位疾病基因诊断、产前基因筛查及遗传咨询的途径,应用效果表明本发明所提供的基因的SNP位点及检测引物可以有效的用于临床患者及胎儿绒毛或羊水进行FBN1基因突变位点的快速检测。
附图说明
图1:实施例1的先天性单纯性晶状体异位家系内患者FBN1测序图,其中第一列:参考序列;第二列:先证者序列。该家系中6名患者FBN1基因c.2420(E21)至IVS20-8:缺失TCTGAAACA插入CGAAAC。
具体实施方式
申请人在一个先天性单纯性晶状体异位家系中发现FBN1基因的突变位点,并证实该基因的突变是该病的致病基因,从而促成了本发明。
FBN1基因位于染色体15q21.1,可转录成大约11695bp的mRNA(NCBI登录号为NM_000138),直接翻译形成2871个氨基酸组成的蛋白质。
下面结合实施例对本发明进行详细的描述。
实施例1:从先天性单纯性晶状体异位家系中筛选FBN1基因的突变位点
1、提取外周血基因组DNA:
在符合国家相关政策规定,并在取样对象同意的基础上,抽取家系成员外周静脉血2-5ml,放入EDTA抗凝管内,-80℃冻存备用;冻存的EDTA抗凝血在室温融化后,取500μL放于离心管,加入等体积TE(pH8.0),混匀,4℃,10000rpm离心10分钟,弃上清。
加入180μL TE、20μLSDS(10%)、8μL蛋白酶K(l0mg/ml)混匀,置于37℃水浴过夜。从水浴中取出样品,瞬时离心沉淀样本。在反应管中加入等体积的Tris-饱和酚(约300μL),充分混匀,室温下10000rpm离心10分钟,吸取上清液(约300μL)至一新离心管中。重复酚抽提一次,吸取上清液至一新离心管中。
加入等体积的Tris饱和酚:氯仿混合液(酚、氯仿各150μL),混匀,室温10000rpm离心10分钟,转移上清液至一新离心管。
加入等体积的Tris饱和酚:氯仿:异戊醇混合液(酚、氯仿、异戊醇各100μL),混匀,室温10000rpm离心10分钟,转移上清液至一新离心管。
加入l/10体积3mol/L、pH5.2醋酸钠(约30μL),2倍体积预冷100%乙醇,轻轻混合,可见白色絮状沉淀。室温10000rpm离心10分钟,使DNA沉淀于管底,弃上清。
向DNA沉淀加入70%乙醇,漂洗一次,室温7000rpm离心5分钟,弃上清,置于室温中挥发剩余乙醇,最后加入50μL TE(pH8.0),4℃过夜溶解DNA。
对提取的DNA行琼脂糖胶电泳,并应用紫外分光光度计在260nm和280nm比色,检测DNA纯度及浓度。
2、直接测序法寻找该家系内患者FBN1基因的突变
PCR扩增目的片段:反应条件与反应体系:
(1)PCR反应条件:94℃3min;94℃40sec,53℃40se,72℃60sec,30-35cycles;72℃10min。
(2)反应体系:(TAKARA LA Taq polymerase)
应用该反应体系分别进行每名家系成员的基因组DNA模板与该FBN1引物的扩增反应。
PCR产物测序:应用常规Sanger测序法对上述PCR产物进行测序,其中应用引物对
FBN1-21-22F:AGCCCAGCTTTACTGTGTGG,FBN1-21-22R:TTTGACACTTCTTATTTCCCATTC,在该家系中六名患者FBN1基因c.2420(E21)至IVS20-8:缺失TCTGAAACA插入CGAAAC(图1)。多次测序结果表明该突变位点并不是因为扩增或测序错误引进的。该突变为一新生突变。该突变不存在于下面的四个数据库中:单核苷酸多态性数据库(ftp://ftp.ncbi.nih.gov/snp/database/),千人基因组计划(ftp://ftp-trace.ncbi.nih.gov/1000genomes/ftp/),Hapmap8数据库(http://hapmap.ncbi.nlm.nih.gov/),及炎黄数据库(http://yh.genomics.org.cn/),表明该突变非常罕见,经预测该突变导致了FBN1蛋白长度截短,从而引起了患者先天性单纯性晶状体异位的发生。而在200例正常当地人群的外周血基因组DNA样本中进行该位点的突变筛查,未发现该突变。
通过上述的分析,证明FBN1基因可以用来检测患者是否具有潜在患先天性单纯性晶状体异位的危险。通过将检测者的FBN1基因的各外显子片段于正常的对应片段比较,确定待检测者的患病风险。
根据FBN1的基因组序列设计扩增其各外显子的引物对,其正反引物的序列信息如下:
FBN1-2F:AGAAGGCGGGAGGAGCC
FBN1-2R:CTTGCCAAGGAGTCTTCCAC
FBN1-3F:TTGGCCATCTCTTCCTCTTC
FBN1-3R:GCCACATTCTAAGGCTCCC
FBN1-4F:ctcattTGAGGATTGGTCCC
FBN1-4R:TGCAGGAAAGAGGAAAGCC
FBN1-5F:CAACTCCTGTGAGCTGTTGC
FBN1-5R:GAAAATCCATCAGCACTTATCTC
FBN1-6F:TCCTTCCAGAGGACCACAAG
FBN1-6R:GTAGCCATGCAGACCCAATG
FBN1-7F:TTCCTCTGCATGATGGTTCC
FBN1-7R:TGGCTCTCCAGAGCAAATAAG
FBN1-8F:TGATGGACAAATAACTCACCG
FBN1-8R:TTCACAGGGATGACAAAGACAG
FBN1-9F:GAGTCCTTCTACTGACGAATGG
FBN1-9R:GAAAGTTGTTTGTTATGGAACTGAC
FBN1-10F:GAAGTATGGAGCTGCTCGG
FBN1-10R:GGCTTGTGAGGGCTGGG
FBN1-11F:ATGGGAATCCAGTCAGTTGG
FBN1-11R:TGCAATAGGAAAATTGAGACATAC
FBN1-12F:CCTCTTTCCTTTCTGATTCAAC
FBN1-12R:GCAATAGAAAACCAGTAGAGTCAAGG
FBN1-13F:GAAAGTCTTAGAATTATGAGGTATTGC
FBN1-13R:AACTCCTTTGAAGCCAACCC
FBN1-14F:AGTTTGCAAATGGAGGGAG
FBN1-14R:TCACTCATTATTTGGTCTTGTTAAAG
FBN1-15F:ATCCAGATTGGTTTCCTTCG
FBN1-15R:ACCTCTAAACAACATAAGGAGGAG
FBN1-16F:TCCTATCTTCCCCATTTTCAAG
FBN1-16R:CCATTGGGCTTTATTGAGTG
FBN1-17F:GCCCTCTTCAACTTTGACTTG
FBN1-17R:AAAGACCTCAATGGTGGCAG
FBN1-18F:AAGGGCAGGATCTACCTGTTC
FBN1-18R:ACCCACAAGAAAGCCTGATG
FBN1-19F:TCCTCCTGTAGCTCCTAAGGTC
FBN1-19R:AAGTGTCCATTTGCCCAGTC
FBN1-20F:AAGTAGATACAGGCAAAGTTTGGG
FBN1-20R:TGGCATAACTGTCTAAAATACAGGAG
FBN1-21-22F:AGCCCAGCTTTACTGTGTGG
FBN1-21-22R:TTTGACACTTCTTATTTCCCATTC
FBN1-23F:TGTCAGAACTGCAAAGTCTGG
FBN1-23R:TGACAGCTTTATCCAGTCCG
FBN1-24F:TTACCAGGTTCAAAATGGGG
FBN1-24R:TGTCTGTACCTGAAGCTAAGTGC
FBN1-25F:CAGAGTGTTGGCAGTTTGGG
FBN1-25R:CCATGCTGGGATGATCAAG
FBN1-26-27F:GAGACCTCCTGACTGCTTGC
FBN1-26-27R:CAGCAGGAAGAACCTGGAAC
FBN1-28-29F:GTCTGGTGGAGGAGATGAGG
FBN1-28-29R:TCAGAGTACATAGAGTGTTTTAGGGAG
FBN1-30F:GGCCCTGCCTCTTAAATAGTG
FBN1-30R:AAGCCTGCTTGACTCCAAAG
FBN1-31F:GGCTAAGTTTATTTGACTGCGG
FBN1-31R:TGGAATCTTTCTATCACTGACCC
FBN1-32F:CTAAACTCAGCATGGAGCCC
FBN1-32R:GAAGGGCCATGAATATTTGG
FBN1-33-34F:ATGGGAAGTTTGAAGGCAAG
FBN1-33-34R:TGAGAAATGTGGAATGCCTG
FBN1-35F:TTATGCCAAAACATTGCTGC
FBN1-35R:AAATGAAGCTAAAACACACCTCAG
FBN1-36F:GCCCAGATTGGTGTTAGATACTC
FBN1-36R:CTTGTGTAGTCCCAGGGAGG
FBN1-37F:TGATGTCTGCCTACACTGGC
FBN1-37R:GGTGCTGTTTTCAAAATAATACACAG
FBN1-38F:TGAACAGTTCCTGAAGTGGG
FBN1-38R:GAAAGGAGAACTGGCTGGAG
FBN1-39-40F:TCAGACGGGCAGAGTAACAAC
FBN1-39-40R:GGTTTTGCAGGTCAGTTCTTG
FBN1-41F:GGCCATTCCAAAATGTGAAG
FBN1-41R:TGAACTTGTGAGCTCTCTTCCTC
FBN1-42F:GATTTCCCACATGGCATCAC
FBN1-42R:TCGCTAAGACTGATTTCCCC
FBN1-43F:GACAAATACCTTTCAAGAATGCTTAC
FBN1-43R:GGTGTTTGCACAGTTTGTTTC
FBN1-44F:CCATCTTGTCTTACCCTGCAC
FBN1-44R:GCCAAGTGTGTATCAAGTAGCTC
FBN1-45F:GGCTTTGTTGACTGGACACC
FBN1-45R:TGAAAATATCTCATCCAGAAAGAGG
FBN1-46F:CTCCTGAGAATGATAGCTAGAAGTAAG
FBN1-46R:ATCCATATTTAGAATCAAATGAAGC
FBN1-47F:CCTGGTGAACCCTAAAATGC
FBN1-47R:GCACATTGTATTTGACAAGTCCC
FBN1-48F:TGCTGGGATTATGACATCTTTG
FBN1-48R:AGACTGCATGATTCCTTGAGTG
FBN1-49F:TTTGATGGAAGTCATGCCAG
FBN1-49R:CCTTGCATTTGTTTCTGATAAAG
FBN1-50F:CCCTTTGTGTGTCCACATTG
FBN1-50R:TCTTCCTGTTCACAAAGAAACAG
FBN1-51F:TTTGCTATGGTGCAATACGG
FBN1-51R:TTACATCATGGCCAGTCTGC
FBN1-52-53F:GCACAGCATGTAGCAATTTTC
FBN1-52-53R:AACTTATTTCAGTGCCATCTTGG
FBN1-54F:AACAAAATTACAGTTTAAAATCCTCTG
FBN1-54R:ATCAACCAATTGTTCCCAGG
FBN1-55F:GGTTCCCTTTTGTTGCTGTC
FBN1-55R:AGGGACATCTCCCCTCACAG
FBN1-56F:AGCAGAAGGAAATACAGCCAG
FBN1-56R:ATCCCAAGAACTCAGAGCCC
FBN1-57F:TCCATCCTCTATAAAATGGTCAG
FBN1-57R:AAGTCTGGGTTTCCAGCATC
FBN1-58F:TTCTCACCCAGGGTAAAGTG
FBN1-58R:GTGCAATTCAACCTAGGCAC
FBN1-59-60F:TTAGTATTTACACTGAAGTGACCCC
FBN1-59-60R:AATGCAGCCATGTGTCAGG
FBN1-61F:GCTTCCCTGATCCTGTTTTG
FBN1-61R:TCCCAACAGCAGAGGAAATAG
FBN1-62F:CTTATTTGGCCTTTTCCGAG
FBN1-62R:TGATGAAGGTGCCAATAGCC
FBN1-63F:AGAATCCATCTGGCTTCAGAG
FBN1-63R:AGCAAGCAGTGTTTTGCTTC
FBN1-64F:GGCCAGATCCAATGTCCTC
FBN1-64R:TCTGCTAGGACAGGTAATTTTGAG
FBN1-65F:ACCACCTACCTTGTCTTCCC
FBN1-65R:TGGAGGAAACCACAGGAATC
FBN1-66F:GCAGCATAAGGCAGAAAATTG
FBN1-66R:TGATATGATGATTCTGATTGGG
分别应用上述的每一对引物进行FBN1基因的检测。
另在山东地区收集诊断明确的先天性单纯性晶状体异位散发患者一名,提取其外周血基因组DNA,应用该患者的DNA模板与FBN1-21-22F和FBN1-21-22R引物进行PCR扩增,应用常规Sanger测序法对上述PCR产物进行测序,该患者的FBN1基因存在本发明中发现的SNP突变,即FBN1基因c.2420(E21)至IVS20-8:缺失TCTGAAACA插入CGAAAC。通过上述的分析,证明FBN1基因可以用来检测患者是否具有潜在患先天性单纯性晶状体异位的危险。通过将检测者的FBN1基因的扩增片段于正常的对应片段比较,确定待检测者的患病风险。
SEQUENCE LISTING
<110> 山东省眼科研究所
<120> FBN1基因在制备检测先天性单纯性晶状体异位制品中的应用
<130>
<160> 116
<170> PatentIn version 3.5
<210> 1
<211> 17
<212> DNA
<213> 1
<400> 1
agaaggcggg aggagcc 17
<210> 2
<211> 20
<212> DNA
<213> 2
<400> 2
cttgccaagg agtcttccac 20
<210> 3
<211> 20
<212> DNA
<213> 3
<400> 3
ttggccatct cttcctcttc 20
<210> 4
<211> 19
<212> DNA
<213> 4
<400> 4
gccacattct aaggctccc 19
<210> 5
<211> 20
<212> DNA
<213> 5
<400> 5
ctcatttgag gattggtccc 20
<210> 6
<211> 19
<212> DNA
<213> 6
<400> 6
tgcaggaaag aggaaagcc 19
<210> 7
<211> 20
<212> DNA
<213> 7
<400> 7
caactcctgt gagctgttgc 20
<210> 8
<211> 23
<212> DNA
<213> 8
<400> 8
gaaaatccat cagcacttat ctc 23
<210> 9
<211> 20
<212> DNA
<213> 9
<400> 9
tccttccaga ggaccacaag 20
<210> 10
<211> 20
<212> DNA
<213> 10
<400> 10
gtagccatgc agacccaatg 20
<210> 11
<211> 20
<212> DNA
<213> 11
<400> 11
ttcctctgca tgatggttcc 20
<210> 12
<211> 21
<212> DNA
<213> 12
<400> 12
tggctctcca gagcaaataa g 21
<210> 13
<211> 21
<212> DNA
<213> 13
<400> 13
tgatggacaa ataactcacc g 21
<210> 14
<211> 22
<212> DNA
<213> 14
<400> 14
ttcacaggga tgacaaagac ag 22
<210> 15
<211> 22
<212> DNA
<213> 15
<400> 15
gagtccttct actgacgaat gg 22
<210> 16
<211> 25
<212> DNA
<213> 16
<400> 16
gaaagttgtt tgttatggaa ctgac 25
<210> 17
<211> 19
<212> DNA
<213> 17
<400> 17
gaagtatgga gctgctcgg 19
<210> 18
<211> 17
<212> DNA
<213> 18
<400> 18
ggcttgtgag ggctggg 17
<210> 19
<211> 20
<212> DNA
<213> 19
<400> 19
atgggaatcc agtcagttgg 20
<210> 20
<211> 24
<212> DNA
<213> 20
<400> 20
tgcaatagga aaattgagac atac 24
<210> 21
<211> 22
<212> DNA
<213> 21
<400> 21
cctctttcct ttctgattca ac 22
<210> 22
<211> 26
<212> DNA
<213> 22
<400> 22
gcaatagaaa accagtagag tcaagg 26
<210> 23
<211> 27
<212> DNA
<213> 23
<400> 23
gaaagtctta gaattatgag gtattgc 27
<210> 24
<211> 20
<212> DNA
<213> 24
<400> 24
aactcctttg aagccaaccc 20
<210> 25
<211> 19
<212> DNA
<213> 25
<400> 25
agtttgcaaa tggagggag 19
<210> 26
<211> 26
<212> DNA
<213> 26
<400> 26
tcactcatta tttggtcttg ttaaag 26
<210> 27
<211> 20
<212> DNA
<213> 27
<400> 27
atccagattg gtttccttcg 20
<210> 28
<211> 24
<212> DNA
<213> 28
<400> 28
acctctaaac aacataagga ggag 24
<210> 29
<211> 22
<212> DNA
<213> 29
<400> 29
tcctatcttc cccattttca ag 22
<210> 30
<211> 20
<212> DNA
<213> 30
<400> 30
ccattgggct ttattgagtg 20
<210> 31
<211> 21
<212> DNA
<213> 31
<400> 31
gccctcttca actttgactt g 21
<210> 32
<211> 20
<212> DNA
<213> 32
<400> 32
aaagacctca atggtggcag 20
<210> 33
<211> 21
<212> DNA
<213> 33
<400> 33
aagggcagga tctacctgtt c 21
<210> 34
<211> 20
<212> DNA
<213> 34
<400> 34
acccacaaga aagcctgatg 20
<210> 35
<211> 22
<212> DNA
<213> 35
<400> 35
tcctcctgta gctcctaagg tc 22
<210> 36
<211> 20
<212> DNA
<213> 36
<400> 36
aagtgtccat ttgcccagtc 20
<210> 37
<211> 24
<212> DNA
<213> 37
<400> 37
aagtagatac aggcaaagtt tggg 24
<210> 38
<211> 26
<212> DNA
<213> 38
<400> 38
tggcataact gtctaaaata caggag 26
<210> 39
<211> 20
<212> DNA
<213> 39
<400> 39
agcccagctt tactgtgtgg 20
<210> 40
<211> 24
<212> DNA
<213> 40
<400> 40
tttgacactt cttatttccc attc 24
<210> 41
<211> 21
<212> DNA
<213> 41
<400> 41
tgtcagaact gcaaagtctg g 21
<210> 42
<211> 20
<212> DNA
<213> 42
<400> 42
tgacagcttt atccagtccg 20
<210> 43
<211> 20
<212> DNA
<213> 43
<400> 43
ttaccaggtt caaaatgggg 20
<210> 44
<211> 23
<212> DNA
<213> 44
<400> 44
tgtctgtacc tgaagctaag tgc 23
<210> 45
<211> 20
<212> DNA
<213> 45
<400> 45
cagagtgttg gcagtttggg 20
<210> 46
<211> 19
<212> DNA
<213> 46
<400> 46
ccatgctggg atgatcaag 19
<210> 47
<211> 20
<212> DNA
<213> 47
<400> 47
gagacctcct gactgcttgc 20
<210> 48
<211> 20
<212> DNA
<213> 48
<400> 48
cagcaggaag aacctggaac 20
<210> 49
<211> 20
<212> DNA
<213> 49
<400> 49
gtctggtgga ggagatgagg 20
<210> 50
<211> 27
<212> DNA
<213> 50
<400> 50
tcagagtaca tagagtgttt tagggag 27
<210> 51
<211> 21
<212> DNA
<213> 51
<400> 51
ggccctgcct cttaaatagt g 21
<210> 52
<211> 20
<212> DNA
<213> 52
<400> 52
aagcctgctt gactccaaag 20
<210> 53
<211> 22
<212> DNA
<213> 53
<400> 53
ggctaagttt atttgactgc gg 22
<210> 54
<211> 23
<212> DNA
<213> 54
<400> 54
tggaatcttt ctatcactga ccc 23
<210> 55
<211> 20
<212> DNA
<213> 55
<400> 55
ctaaactcag catggagccc 20
<210> 56
<211> 20
<212> DNA
<213> 56
<400> 56
gaagggccat gaatatttgg 20
<210> 57
<211> 20
<212> DNA
<213> 57
<400> 57
atgggaagtt tgaaggcaag 20
<210> 58
<211> 20
<212> DNA
<213> 58
<400> 58
tgagaaatgt ggaatgcctg 20
<210> 59
<211> 20
<212> DNA
<213> 59
<400> 59
ttatgccaaa acattgctgc 20
<210> 60
<211> 24
<212> DNA
<213> 60
<400> 60
aaatgaagct aaaacacacc tcag 24
<210> 61
<211> 23
<212> DNA
<213> 61
<400> 61
gcccagattg gtgttagata ctc 23
<210> 62
<211> 20
<212> DNA
<213> 62
<400> 62
cttgtgtagt cccagggagg 20
<210> 63
<211> 20
<212> DNA
<213> 63
<400> 63
tgatgtctgc ctacactggc 20
<210> 64
<211> 26
<212> DNA
<213> 64
<400> 64
ggtgctgttt tcaaaataat acacag 26
<210> 65
<211> 20
<212> DNA
<213> 65
<400> 65
tgaacagttc ctgaagtggg 20
<210> 66
<211> 20
<212> DNA
<213> 66
<400> 66
gaaaggagaa ctggctggag 20
<210> 67
<211> 21
<212> DNA
<213> 67
<400> 67
tcagacgggc agagtaacaa c 21
<210> 68
<211> 21
<212> DNA
<213> 68
<400> 68
ggttttgcag gtcagttctt g 21
<210> 69
<211> 20
<212> DNA
<213> 69
<400> 69
ggccattcca aaatgtgaag 20
<210> 70
<211> 23
<212> DNA
<213> 70
<400> 70
tgaacttgtg agctctcttc ctc 23
<210> 71
<211> 20
<212> DNA
<213> 71
<400> 71
gatttcccac atggcatcac 20
<210> 72
<211> 20
<212> DNA
<213> 72
<400> 72
tcgctaagac tgatttcccc 20
<210> 73
<211> 26
<212> DNA
<213> 73
<400> 73
gacaaatacc tttcaagaat gcttac 26
<210> 74
<211> 21
<212> DNA
<213> 74
<400> 74
ggtgtttgca cagtttgttt c 21
<210> 75
<211> 21
<212> DNA
<213> 75
<400> 75
ccatcttgtc ttaccctgca c 21
<210> 76
<211> 23
<212> DNA
<213> 76
<400> 76
gccaagtgtg tatcaagtag ctc 23
<210> 77
<211> 20
<212> DNA
<213> 77
<400> 77
ggctttgttg actggacacc 20
<210> 78
<211> 25
<212> DNA
<213> 78
<400> 78
tgaaaatatc tcatccagaa agagg 25
<210> 79
<211> 27
<212> DNA
<213> 79
<400> 79
ctcctgagaa tgatagctag aagtaag 27
<210> 80
<211> 25
<212> DNA
<213> 80
<400> 80
atccatattt agaatcaaat gaagc 25
<210> 81
<211> 20
<212> DNA
<213> 81
<400> 81
cctggtgaac cctaaaatgc 20
<210> 82
<211> 23
<212> DNA
<213> 82
<400> 82
gcacattgta tttgacaagt ccc 23
<210> 83
<211> 22
<212> DNA
<213> 83
<400> 83
tgctgggatt atgacatctt tg 22
<210> 84
<211> 22
<212> DNA
<213> 84
<400> 84
agactgcatg attccttgag tg 22
<210> 85
<211> 20
<212> DNA
<213> 85
<400> 85
tttgatggaa gtcatgccag 20
<210> 86
<211> 23
<212> DNA
<213> 86
<400> 86
ccttgcattt gtttctgata aag 23
<210> 87
<211> 20
<212> DNA
<213> 87
<400> 87
ccctttgtgt gtccacattg 20
<210> 88
<211> 23
<212> DNA
<213> 88
<400> 88
tcttcctgtt cacaaagaaa cag 23
<210> 89
<211> 20
<212> DNA
<213> 89
<400> 89
tttgctatgg tgcaatacgg 20
<210> 90
<211> 20
<212> DNA
<213> 90
<400> 90
ttacatcatg gccagtctgc 20
<210> 91
<211> 21
<212> DNA
<213> 91
<400> 91
gcacagcatg tagcaatttt c 21
<210> 92
<211> 23
<212> DNA
<213> 92
<400> 92
aacttatttc agtgccatct tgg 23
<210> 93
<211> 27
<212> DNA
<213> 93
<400> 93
aacaaaatta cagtttaaaa tcctctg 27
<210> 94
<211> 20
<212> DNA
<213> 94
<400> 94
atcaaccaat tgttcccagg 20
<210> 95
<211> 20
<212> DNA
<213> 95
<400> 95
ggttcccttt tgttgctgtc 20
<210> 96
<211> 20
<212> DNA
<213> 96
<400> 96
agggacatct cccctcacag 20
<210> 97
<211> 21
<212> DNA
<213> 97
<400> 97
agcagaagga aatacagcca g 21
<210> 98
<211> 20
<212> DNA
<213> 98
<400> 98
atcccaagaa ctcagagccc 20
<210> 99
<211> 23
<212> DNA
<213> 99
<400> 99
tccatcctct ataaaatggt cag 23
<210> 100
<211> 20
<212> DNA
<213> 100
<400> 100
aagtctgggt ttccagcatc 20
<210> 101
<211> 20
<212> DNA
<213> 101
<400> 101
ttctcaccca gggtaaagtg 20
<210> 102
<211> 20
<212> DNA
<213> 102
<400> 102
gtgcaattca acctaggcac 20
<210> 103
<211> 25
<212> DNA
<213> 103
<400> 103
ttagtattta cactgaagtg acccc 25
<210> 104
<211> 19
<212> DNA
<213> 104
<400> 104
aatgcagcca tgtgtcagg 19
<210> 105
<211> 20
<212> DNA
<213> 105
<400> 105
gcttccctga tcctgttttg 20
<210> 106
<211> 21
<212> DNA
<213> 106
<400> 106
tcccaacagc agaggaaata g 21
<210> 107
<211> 20
<212> DNA
<213> 107
<400> 107
cttatttggc cttttccgag 20
<210> 108
<211> 20
<212> DNA
<213> 108
<400> 108
tgatgaaggt gccaatagcc 20
<210> 109
<211> 21
<212> DNA
<213> 109
<400> 109
agaatccatc tggcttcaga g 21
<210> 110
<211> 20
<212> DNA
<213> 110
<400> 110
agcaagcagt gttttgcttc 20
<210> 111
<211> 19
<212> DNA
<213> 111
<400> 111
ggccagatcc aatgtcctc 19
<210> 112
<211> 24
<212> DNA
<213> 112
<400> 112
tctgctagga caggtaattt tgag 24
<210> 113
<211> 20
<212> DNA
<213> 113
<400> 113
accacctacc ttgtcttccc 20
<210> 114
<211> 20
<212> DNA
<213> 114
<400> 114
tggaggaaac cacaggaatc 20
<210> 115
<211> 21
<212> DNA
<213> 115
<400> 115
gcagcataag gcagaaaatt g 21
<210> 116
<211> 22
<212> DNA
<213> 116
<400> 116
tgatatgatg attctgattg gg 22
Claims (3)
1.检测FBN1基因的试剂在制备用于检测先天性单纯性晶状体异位诊断制品中的应用,其特征在于,所述的检测FBN1基因的试剂,是检测FBN1基因与先天性单纯性晶状体异位疾病相关的SNP位点,所述的SNP位点为FBN1基因c.2420至IVS20-8位的碱基,为缺失TCTGAAACA而插入CGAAAC。
2.如权利要求1所述的应用,其特征在于,所述的检测,是通过引物对扩增待检测的样品,进行测序确定是否存在所述的SNP位点。
3.如权利要求2所述的应用,其特征在于,所述的引物对,其序列的信息如下:
FBN1-2F: AGAAGGCGGGAGGAGCC SEQ ID NO:1
FBN1-2R: CTTGCCAAGGAGTCTTCCAC SEQ ID NO:2
FBN1-3F: TTGGCCATCTCTTCCTCTTC SEQ ID NO:3
FBN1-3R: GCCACATTCTAAGGCTCCC SEQ ID NO:4
FBN1-4F: ctcattTGAGGATTGGTCCC SEQ ID NO:5
FBN1-4R: TGCAGGAAAGAGGAAAGCC SEQ ID NO:6
FBN1-5F: CAACTCCTGTGAGCTGTTGC SEQ ID NO:7
FBN1-5R: GAAAATCCATCAGCACTTATCTC SEQ ID NO:8
FBN1-6F: TCCTTCCAGAGGACCACAAG SEQ ID NO:9
FBN1-6R: GTAGCCATGCAGACCCAATG SEQ ID NO:10
FBN1-7F: TTCCTCTGCATGATGGTTCC SEQ ID NO:11
FBN1-7R: TGGCTCTCCAGAGCAAATAAG SEQ ID NO:12
FBN1-8F: TGATGGACAAATAACTCACCG SEQ ID NO:13
FBN1-8R: TTCACAGGGATGACAAAGACAG SEQ ID NO:14
FBN1-9F: GAGTCCTTCTACTGACGAATGG SEQ ID NO:15
FBN1-9R: GAAAGTTGTTTGTTATGGAACTGAC SEQ ID NO:16
FBN1-10F: GAAGTATGGAGCTGCTCGG SEQ ID NO:17
FBN1-10R: GGCTTGTGAGGGCTGGG SEQ ID NO:18
FBN1-11F: ATGGGAATCCAGTCAGTTGG SEQ ID NO:19
FBN1-11R: TGCAATAGGAAAATTGAGACATAC SEQ ID NO:20
FBN1-12F: CCTCTTTCCTTTCTGATTCAAC SEQ ID NO:21
FBN1-12R: GCAATAGAAAACCAGTAGAGTCAAGG SEQ ID NO:22
FBN1-13F: GAAAGTCTTAGAATTATGAGGTATTGC SEQ ID NO:23
FBN1-13R: AACTCCTTTGAAGCCAACCC SEQ ID NO:24
FBN1-14F: AGTTTGCAAATGGAGGGAG SEQ ID NO:25
FBN1-14R: TCACTCATTATTTGGTCTTGTTAAAG SEQ ID NO:26
FBN1-15F: ATCCAGATTGGTTTCCTTCG SEQ ID NO:27
FBN1-15R: ACCTCTAAACAACATAAGGAGGAG SEQ ID NO:28
FBN1-16F: TCCTATCTTCCCCATTTTCAAG SEQ ID NO:29
FBN1-16R: CCATTGGGCTTTATTGAGTG SEQ ID NO:30
FBN1-17F: GCCCTCTTCAACTTTGACTTG SEQ ID NO:31
FBN1-17R: AAAGACCTCAATGGTGGCAG SEQ ID NO:32
FBN1-18F: AAGGGCAGGATCTACCTGTTC SEQ ID NO:33
FBN1-18R: ACCCACAAGAAAGCCTGATG SEQ ID NO:34
FBN1-19F: TCCTCCTGTAGCTCCTAAGGTC SEQ ID NO:35
FBN1-19R: AAGTGTCCATTTGCCCAGTC SEQ ID NO:36
FBN1-20F: AAGTAGATACAGGCAAAGTTTGGG SEQ ID NO:37
FBN1-20R: TGGCATAACTGTCTAAAATACAGGAG SEQ ID NO:38
FBN1-21-22F: AGCCCAGCTTTACTGTGTGG SEQ ID NO:39
FBN1-21-22R: TTTGACACTTCTTATTTCCCATTC SEQ ID NO:40
FBN1-23F: TGTCAGAACTGCAAAGTCTGG SEQ ID NO:41
FBN1-23R: TGACAGCTTTATCCAGTCCG SEQ ID NO:42
FBN1-24F: TTACCAGGTTCAAAATGGGG SEQ ID NO:43
FBN1-24R: TGTCTGTACCTGAAGCTAAGTGC SEQ ID NO:44
FBN1-25F: CAGAGTGTTGGCAGTTTGGG SEQ ID NO:45
FBN1-25R: CCATGCTGGGATGATCAAG SEQ ID NO:46
FBN1-26-27F: GAGACCTCCTGACTGCTTGC SEQ ID NO:47
FBN1-26-27R: CAGCAGGAAGAACCTGGAAC SEQ ID NO:48
FBN1-28-29F: GTCTGGTGGAGGAGATGAGG SEQ ID NO:49
FBN1-28-29R: TCAGAGTACATAGAGTGTTTTAGGGAG SEQ ID NO:50
FBN1-30F: GGCCCTGCCTCTTAAATAGTG SEQ ID NO:51
FBN1-30R: AAGCCTGCTTGACTCCAAAG SEQ ID NO:52
FBN1-31F: GGCTAAGTTTATTTGACTGCGG SEQ ID NO:53
FBN1-31R: TGGAATCTTTCTATCACTGACCC SEQ ID NO:54
FBN1-32F: CTAAACTCAGCATGGAGCCC SEQ ID NO:55
FBN1-32R: GAAGGGCCATGAATATTTGG SEQ ID NO:56
FBN1-33-34F: ATGGGAAGTTTGAAGGCAAG SEQ ID NO:57
FBN1-33-34R: TGAGAAATGTGGAATGCCTG SEQ ID NO:58
FBN1-35F: TTATGCCAAAACATTGCTGC SEQ ID NO:59
FBN1-35R: AAATGAAGCTAAAACACACCTCAG SEQ ID NO:60
FBN1-36F: GCCCAGATTGGTGTTAGATACTC SEQ ID NO:61
FBN1-36R: CTTGTGTAGTCCCAGGGAGG SEQ ID NO:62
FBN1-37F: TGATGTCTGCCTACACTGGC SEQ ID NO:63
FBN1-37R: GGTGCTGTTTTCAAAATAATACACAG SEQ ID NO:64
FBN1-38F: TGAACAGTTCCTGAAGTGGG SEQ ID NO:65
FBN1-38R: GAAAGGAGAACTGGCTGGAG SEQ ID NO:66
FBN1-39-40F: TCAGACGGGCAGAGTAACAAC SEQ ID NO:67
FBN1-39-40R: GGTTTTGCAGGTCAGTTCTTG SEQ ID NO:68
FBN1-41F: GGCCATTCCAAAATGTGAAG SEQ ID NO:69
FBN1-41R: TGAACTTGTGAGCTCTCTTCCTC SEQ ID NO:70
FBN1-42F: GATTTCCCACATGGCATCAC SEQ ID NO:71
FBN1-42R: TCGCTAAGACTGATTTCCCC SEQ ID NO:72
FBN1-43F: GACAAATACCTTTCAAGAATGCTTAC SEQ ID NO:73
FBN1-43R: GGTGTTTGCACAGTTTGTTTC SEQ ID NO:74
FBN1-44F: CCATCTTGTCTTACCCTGCAC SEQ ID NO:75
FBN1-44R: GCCAAGTGTGTATCAAGTAGCTC SEQ ID NO:76
FBN1-45F: GGCTTTGTTGACTGGACACC SEQ ID NO:77
FBN1-45R: TGAAAATATCTCATCCAGAAAGAGG SEQ ID NO:78
FBN1-46F: CTCCTGAGAATGATAGCTAGAAGTAAG SEQ ID NO:79
FBN1-46R: ATCCATATTTAGAATCAAATGAAGC SEQ ID NO:80
FBN1-47F: CCTGGTGAACCCTAAAATGC SEQ ID NO:81
FBN1-47R: GCACATTGTATTTGACAAGTCCC SEQ ID NO:82
FBN1-48F: TGCTGGGATTATGACATCTTTG SEQ ID NO:83
FBN1-48R: AGACTGCATGATTCCTTGAGTG SEQ ID NO:84
FBN1-49F: TTTGATGGAAGTCATGCCAG SEQ ID NO:85
FBN1-49R: CCTTGCATTTGTTTCTGATAAAG SEQ ID NO:86
FBN1-50F: CCCTTTGTGTGTCCACATTG SEQ ID NO:87
FBN1-50R: TCTTCCTGTTCACAAAGAAACAG SEQ ID NO:88
FBN1-51F: TTTGCTATGGTGCAATACGG SEQ ID NO:89
FBN1-51R: TTACATCATGGCCAGTCTGC SEQ ID NO:90
FBN1-52-53F: GCACAGCATGTAGCAATTTTC SEQ ID NO:91
FBN1-52-53R: AACTTATTTCAGTGCCATCTTGG SEQ ID NO:92
FBN1-54F: AACAAAATTACAGTTTAAAATCCTCTG SEQ ID NO:93
FBN1-54R: ATCAACCAATTGTTCCCAGG SEQ ID NO:94
FBN1-55F: GGTTCCCTTTTGTTGCTGTC SEQ ID NO:95
FBN1-55R: AGGGACATCTCCCCTCACAG SEQ ID NO:96
FBN1-56F: AGCAGAAGGAAATACAGCCAG SEQ ID NO:97
FBN1-56R: ATCCCAAGAACTCAGAGCCC SEQ ID NO:98
FBN1-57F: TCCATCCTCTATAAAATGGTCAG SEQ ID NO:99
FBN1-57R: AAGTCTGGGTTTCCAGCATC SEQ ID NO:100
FBN1-58F: TTCTCACCCAGGGTAAAGTG SEQ ID NO:101
FBN1-58R: GTGCAATTCAACCTAGGCAC SEQ ID NO:102
FBN1-59-60F: TTAGTATTTACACTGAAGTGACCCC SEQ ID NO:103
FBN1-59-60R: AATGCAGCCATGTGTCAGG SEQ ID NO:104
FBN1-61F: GCTTCCCTGATCCTGTTTTG SEQ ID NO:105
FBN1-61R: TCCCAACAGCAGAGGAAATAG SEQ ID NO:106
FBN1-62F: CTTATTTGGCCTTTTCCGAG SEQ ID NO:107
FBN1-62R: TGATGAAGGTGCCAATAGCC SEQ ID NO:108
FBN1-63F: AGAATCCATCTGGCTTCAGAG SEQ ID NO:109
FBN1-63R: AGCAAGCAGTGTTTTGCTTC SEQ ID NO:110
FBN1-64F: GGCCAGATCCAATGTCCTC SEQ ID NO:111
FBN1-64R: TCTGCTAGGACAGGTAATTTTGAG SEQ ID NO:112
FBN1-65F: ACCACCTACCTTGTCTTCCC SEQ ID NO:113
FBN1-65R: TGGAGGAAACCACAGGAATC SEQ ID NO:114
FBN1-66F: GCAGCATAAGGCAGAAAATTG SEQ ID NO:115
FBN1-66R: TGATATGATGATTCTGATTGGG SEQ ID NO:116 。
Priority Applications (1)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
CN201710616310.XA CN107267639B (zh) | 2017-07-26 | 2017-07-26 | Fbn1基因在制备检测先天性单纯性晶状体异位制品中的应用 |
Applications Claiming Priority (1)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
CN201710616310.XA CN107267639B (zh) | 2017-07-26 | 2017-07-26 | Fbn1基因在制备检测先天性单纯性晶状体异位制品中的应用 |
Publications (2)
Publication Number | Publication Date |
---|---|
CN107267639A CN107267639A (zh) | 2017-10-20 |
CN107267639B true CN107267639B (zh) | 2020-04-07 |
Family
ID=60079123
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
CN201710616310.XA Active CN107267639B (zh) | 2017-07-26 | 2017-07-26 | Fbn1基因在制备检测先天性单纯性晶状体异位制品中的应用 |
Country Status (1)
Country | Link |
---|---|
CN (1) | CN107267639B (zh) |
Family Cites Families (2)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN101481743B (zh) * | 2009-01-22 | 2011-12-14 | 浙江大学医学院附属第二医院 | 一种检测马凡综合症的试剂盒及其制备方法 |
CN104120132B (zh) * | 2013-04-28 | 2017-03-08 | 福建省立医院 | Fbn1基因突变体及其应用 |
-
2017
- 2017-07-26 CN CN201710616310.XA patent/CN107267639B/zh active Active
Also Published As
Publication number | Publication date |
---|---|
CN107267639A (zh) | 2017-10-20 |
Similar Documents
Publication | Publication Date | Title |
---|---|---|
CN104561016B (zh) | 先天性白内障pitx3基因新突变 | |
CN115141884A (zh) | 一种新的atp7b突变基因及其诊断试剂 | |
CN115141837A (zh) | 一种新slc9a6突变基因及其诊断试剂 | |
CN107312859B (zh) | Aqp5基因在制备检测先天性白内障制品中的应用 | |
CN107723359B (zh) | 一种先天性白内障致病基因及其应用、检测引物、检测试剂盒 | |
Schimmenti et al. | Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome | |
CN106282383B (zh) | Krt12基因在检测圆锥角膜中的应用 | |
CN107267639B (zh) | Fbn1基因在制备检测先天性单纯性晶状体异位制品中的应用 | |
CN102732607B (zh) | 一种检测高度近视的试剂盒 | |
Jin et al. | Clinical and molecular findings in three Japanese patients with crystalline retinopathy | |
CN105274225B (zh) | 一种用于检测斑块状角膜营养不良病的snp位点 | |
CN113201588B (zh) | 用于检测先天性无虹膜并发青光眼病的snp位点、应用及产品 | |
CN106399564B (zh) | Ercc8基因在先天性白内障合并圆锥角膜检测中的应用 | |
CN105803078B (zh) | Cryba4基因在检测先天性ccmc中的应用 | |
Xiao et al. | A novel PAX6 heterozygous mutation found in a Chinese family with congenital aniridia | |
Fu et al. | Novel compound heterozygous nonsense variants, p. L150* and p. Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA | |
CN108866067B (zh) | 一种雷伯氏先天性黑矇的致病突变及其检测试剂 | |
Xie et al. | Targeted next generation sequencing revealed novel PRPF31 mutations in autosomal dominant retinitis pigmentosa | |
CN108034709B (zh) | Guca1a基因在制备检测视锥细胞营养不良制品中的应用 | |
Imai et al. | Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy | |
Iino et al. | A novel mutation (967− 970+ 2) delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings | |
CN117467761B (zh) | Fktn基因突变体、突变体蛋白、试剂、试剂盒及应用 | |
CN106755446B (zh) | 一种与先天性ccmc相关的snp位点 | |
CN106434933A (zh) | Crybb2基因在制备检测先天性白内障制品中的应用 | |
CHEN et al. | LI ZHU1,#, JINGLIANG CHENG1,#, BOXU ZHOU1, CHUNLI WEI1, 2, WEICHAN YANG1, DONG JIANG3, IQRA IJAZ1, XIAOJUN TAN4 |
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 |