目的：遗传性板层白内障家系致病基因的定位及突变筛查。
Objective: We tried to identify the genetic defect causing Hereditary lamellar Cataract.
摘要 ：目的对4例汉族马凡综合征（MFS）患者的原纤蛋白-1（FBN1）基因进行突变筛查，探讨MFS与FBN1基因突变的关系。
Abstract : Objective To detect FBN1 mutation by screening FBN1 gene from 4 patients with Marfan syndrome(MFS)to investigate the correlation between the gene mutation and the MFS.
抽提外周血基因组dna，对DAX1基因2个外显子(外显子1和2)的PCR扩增产物进行测序分析；无突变者行SF 1基因(外显子2 ~ 7)突变筛查。
Genome DNA was extracted from peripheral blood, exon 1 and exon 2 of DAX1 gene were amplified by PCR for sequencing, and mutation screening of SF1 gene (exon 2-7) was conducted.
目的建立一种简便、准确和快速的筛查苯丙酮尿症突变基因的方法。
Objective to establish a simple, accurate and rapid method for screening of the mutant genes in phenylketonuria.
筛查试验可有效的检测BR CA突变。
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.
应用变性高效液相色谱（DHPLC）分析及直接基因测序筛查突变和多态。
Screening the mutations and polymorphisms by denaturing high-performance liquid chromatography(DHPLC) and DNA sequencing Results: 1.
目前检测EGFR基因突变的方法主要是直接测序，费时，费用较高，不适合用于临床筛查。
Now the most common method to detect EGFR gene mutations was direct sequencing, expensive and time consuming, which didn't fit clinical screening.
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.
结论：制作的基因芯片可准确识别嗜铬细胞瘤相关的基因突变，为筛查嗜铬细胞瘤基因突变提供一种快速的方法。
Conclusions: The gene chip could accurately identify genetic mutations related to pheochromocytoma, which could provide a quick method of screening genetic mutations in pheochromocytoma.
该技术速度快，易于自动化，特别适合大量单碱基突变基因的筛查。
This method is characteristic of high speed, easy automation, and is especially suitable for high throughput screening.
目的：观察单链构象多态性(SSCP)筛查akt2基因突变时凝胶配制的不同对筛查结果的影响。
Objective: To observe the effect of different gel preparation on detecting mutation of AKT2 gene by single-strand conformation polymorphism (SSCP).
方法采用PCR - SSCP筛查与DNA直接测序的方法对12例okc进行PTCH基因突变的检测，其中2例为痣样基底细胞癌综合征(NBCCS)相关okc,10例为散发okc。
Methods PCRSSCP and DNA sequencing were used to analyze the PTCH gene mutations in 12 OKCs, including 10 sporadic and 2 nevoid basal cell carcinoma syndrome (NBCCS) associated OKC.
建议将此突变位点检测运用于遗传咨询、产前诊断、新生儿和不明原因感音神经性聋患者的基因筛查中。
It is suggested to utilize this detection for genetic counseling, prenatal diagnosis, and the genetic screening of neonates and the sensorineural hearing loss with unknown reason.
建议将此突变位点检测运用于遗传咨询、产前诊断、新生儿和不明原因感音神经性聋患者的基因筛查中。
It is suggested to utilize this detection for genetic counseling, prenatal diagnosis, and the genetic screening of neonates and the sensorineural hearing loss with unknown reason.
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