ERG11基因启动子突变可能与白念珠菌对氟康唑耐药有关。
The mutation of ERG11 promoter may be associated with the resistance of C. albicans to fluconazole.
第12外显子突变导致NPM 1胞浆异位从而发生肿瘤转化。
Mutations in exon 12 cause cytoplasmic NPM1 localization, and consequently contribute to tumour development.
结论：胰岛素基因启动子突变可能不是中国人2型糖尿病的重要遗传因素。
Therefore mutation of insulin gene promoter might not be a major genetic factor for type 2 diabetes mellitus in Chinese patients.
目的检测中国人神经纤维瘤病1型(nf1)基因32、33外显子突变。
Objective to detect the mutation on exons 32, 33 of Chinese the neurofibromatosis type 1 (NF1) gene.
内含子突变可以通过引起剪接异常或关键性DNA -蛋白反应中断而影响基因调控。
Intronic mutations may affect gene regulation through aberrant splicing or disruption of critical DNA protein interactions.
结论ACI患者血浆型PAF - AH基因9号外显子突变基因型及突变等位基因显著增高。
ConclusionThe prevalence of the mutation genotype and the mutation allele of PAFAH exon 9 in patients with ACI is significantly increased.
方法采用免疫组化检测52例鼻咽癌中pten基因的表达，利用PCRSSCP银染、DNA测序分析等方法检测pten基因第5、8外显子突变。
Methods immunohistochemistry in 52 cases of nasopharyngeal carcinoma PTEN gene expression, the use of PCR SSCP silver staining, DNA sequencing analysis to detect PTEN gene mutation in exon 5, 8.
除同义突变外，在MYH9基因的外显子和弗兰克区域未检测到致病突变。
No pathogenic mutation was detected in the exon and franking regions of MYH9 gene except a synonymous mutation.
“外显子组测序在稀有突变的发现上有很多优势，”Wang表示。
"Exome sequencing has a lot of advantages for the discovery of rare mutations," said Wang.
“我们已经知道，在B细胞过度表达或突变的NIK和TRAF3分子是与人类多发性骨髓瘤相关，”麦凯教授说。
"We already know that the over-expression or mutation of molecules known as NIK and TRAF3 in B cells is associated with human multiple myeloma," said Professor Mackay.
对肿瘤组织进行或组织检查以检测EGFR的18—21外显子的突变并应用双向测定法检测RAS的2外显子的突变。
Tumor biopsies were evaluated for the presence of somatic mutations in exons 18-21 of EGFR and exon 2 of RAS by bi-directional sequencing.
这样的大群体有利于检出稀有的突变或重组子。
These large populations facilitate the detection of rare mutational or recombinational events.
我们使用一个已知导致剪切缺陷的83个内含子和35个外显子的突变来评估hsf的效率。
We evaluated HSF efficiency using a set of 83 intronic and 35 exonic mutations known to result in splicing defects.
采用聚合酶链反应(PCR)方法扩增rho基因第1 ~ 5外显子和第1内含子基因片段，用直接dna测序法筛查rho基因突变。
Extron 1-5 of RHO gene was amplified by polymerase chain reaction (PCR), and the mutation of RHO gene was screened by direct DNA sequence measurement.
SSCP分析发现17个外显子pcr产物单链dna迁移率异常，通过DNA直接测序发现9个外显子可疑突变，但反向测序均未能证实。
By PCR-SSCP analysis, 17 PCR products were identified with different mobility of single strand DNA in propositus. 9 suspectable mutations were revealed with DNA sequencing analysis.
目的研究P53基因第5～6外显子点突变与儿童白血病发生之间的关系。
Objective To discuss the relation between exon5-6point mutations of P53gene and occurrence of leukemia in children.
结论：雄性激素受体基因外显子a即基因转录激活区的突变是造成少精不育的重要原因。
Conclusion: Mutation of Exon a in ar gene plays a very important part in development of infertile men with oligospermia.
目的分析散发型甲状腺髓样癌RET基因第11外显子碱基序列，明确RET基因突变与散发型甲状腺髓样癌的关系。
Objective To explore the mutation of RET gene exon 11 in sporadic medullary thyroid carcinoma and to clarify the relationship between RET mutation and sporadic medullary thyroid carcinomas.
目的：利用聚合酶链反应定点突变技术构建人血小板反应素1基因第13外显子编码钙结合域突变体。
AIM: To establish the mutant of coding calcium binding fragment of the 13th exon of human thrombospondin-1 (TSP-1) gene with polymerase chain reaction (PCR) site directed mutagenesis technology.
目的：检测胆固醇酯转移蛋白第15外显子基因突变及其性质。
Objective: To detect the mutation in exon 15 of cholesteryl ester transfer protein gene and its properties.
目的研究中国人肝豆状核变性（WD）基因12号外显子的突变特征，为建立直接基因诊断的方法提供理论依据。
Objectives To study the feature of disease causing mutation of exon 12 of Wilson disease (WD) gene in Chinese and evaluate its value in direct gene diagnosis.
目的了解拉米夫定耐药与HBV基因型及HBV基本核心启动子(BCP)突变之间的关系。
Objective To investigate the relationship of HBV Lumivudine resistant and HBV genotypes and basic core promoter (BCP) mutation.
目的对广东地区汉族人群的甘露聚糖结合凝集素结构基因第一外显子第54位密码点突变（GGC54GAC）进行初步筛查。
Objective To screen the point mutation at the codon 54(GGC54GAC) in the first exon of the mannan binding lectin (MBL) gene in Hans from Guangdong.
目的：探讨ABCB4基因外显子23点突变与妊娠期肝内胆汁淤积症（ICP）发病的关系。
Objective To investigate the relationship between the point mutation of ABCB4 gene exon 23 and the intrahepatic cholestasis of pregnancy (ICP).
这些突变均发生在酪氨酸激酶域的ATP结合域附近，突变为19号外显子上的缺失突变，或18和21号外显子上的替代突变。
The mutations, including in-frame deletions at exon 19 and substitutions at exon 18 or exon 21, cluster around ATP-binding pocket of TK domain.
结论雄性激素受体基因外显子A即基因转录激活区的突变是造成少精不育的重要原因。
Conclusion Mutation of Exon a in ar gene plays an important part in infertile men with oligospermia.
目的分析肝豆状核变性（WD）ATP7B基因8号外显子在中国人中的突变特点。
Objective To analyze the mutation characterization in exon 8 of ATP7B gene in Chinese Patients with Wilson disease(WD).
结论WD基因第8外显子778位密码子系中国人的突变热点之一。
The codon 778 of exon 8 in WD gene was one of mutation hotspots in Chinese.
结论WD基因第8外显子778位密码子系中国人的突变热点之一。
The codon 778 of exon 8 in WD gene was one of mutation hotspots in Chinese.
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