Despite high mutation detection rate, many HBOC cases remain without identified cause.
尽管有很高的突变检出率，但是许多HBOC仍然没有可识别的原因。
Objective To study whether protein truncation test (PTT) is suitable for mutation detection in large size gene, such as ATM.
目的：研究蛋白质截短技术(ptt)在atm等大基因突变检测中的可行性。
Methods:The method for MBL point mutation detection(PCR-RFLP) was Established with self-designed primers according to MBL genomic sequence;
方法：根据MBL基因序列设计引物建立MBL基因点突变检测方法即PCR -RFLP ；
Results The microarray can identify a single base change of selected lamivudine resistance-related mutation and multiple mutation detection by a single assay as well.
结果我们研制的芯片能同时特异性地检测耐药相关单一或多位点突变。
By the mean time, the technique have reported in the gene expression analysis, new gene discovery, gene mutation detection, SNP analysis, DNA re-sequence and diagnosis.
目前，该技术已用于基因表达谱分析、新基因发现、基因突变、基因多态性分析、药物筛选和基因测序及疾病的诊断。
The point mutation detection rate of hair follicles was higher than that of blood. So, hair follicles have the potent clinical application value for the genetic analysis of mitochondrial diseases.
毛球标本的线粒体点突变检测率高于血液，因此在线粒体相关疾病的基因分析中具有较高的临床应用价值。
The detection of dynamic mutation is the only way for gene diagnosis of SCA.
检测sca基因的动态突变是目前诊断sca的唯一有效方法。
Moreover, detection of genotypic mutation is not very popular in China because of the reagent.
而且由于试剂的原因，基因变异的检测在中国也不很广泛。
Because of bringing mutation into DynamiCS, the efficiencies of learning and detection are improved.
在动态克隆中引入变异，提高了学习效率和检测效率。
Therefore, the detection of BRCA1 and BRCA2 gene mutation will be valuable for the prognosis of breast cancer.
通过检测乳腺癌患者BRCA1和BRCA2基因的突变情况，将有助于对乳腺癌患者预后的早期评估。
To develop a fluorescent MGB probe real time PCR platform for detection the mutation of phenylalanine hydroxylase gene in patients with phenylketonuria.
探讨荧光mgb探针实时PCR技术检测经典型苯丙酮尿症的基因突变。
It was concluded that PCR SSCP silver staining method for the detection of P53 gene mutation is quick reliable and practical.
结论：PCRSSCP银染色法是一种可靠、快速、实用的P 53基因突变检测方法。
The detection of P53 gene mutation plays an important role in predicting the malignant progression of bladder cancer and in early detection of bladder cancer recurrence.
P 53基因突变的检测对预测膀胱癌的进展，复发的早期诊断具有重要的临床意义。
The detection of P53 gene mutation plays an important role in predicting the malignant progression of bladder cancer and in early detection of bladder cancer recurrence.
P 53基因突变的检测对预测膀胱癌的进展，复发的早期诊断具有重要的临床意义。
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