Brain T1ρ mapping for grading and IDH1 gene mutation detection of gliomas: a preliminary study

2018 ◽  
Vol 141 (1) ◽  
pp. 245-252 ◽  
Author(s):  
Mengqiu Cao ◽  
Weina Ding ◽  
Xu Han ◽  
Shiteng Suo ◽  
Yawen Sun ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Detection ◽  
T1ρ Mapping ◽  
Preliminary Study

scholarly journals Gene mutation in children with B-lineage acute lymphoblastic leukemia (B- ALL): Preliminary study

2020 ◽  
Vol 5 (4) ◽  
pp. S24
Author(s):  
Mururul Aisyi ◽  
Dina Garniasih ◽  
Fahreza Saputra ◽  
Puji Lestari ◽  
Chainurridha Chainurridha ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Gene Mutation ◽  
Lymphoblastic Leukemia ◽  
Preliminary Study ◽  
B Lineage

Diagnosis Value of Detection K-Ras Gene Mutations in Patients with Gastric Cancer

2011 ◽  
Vol 396-398 ◽  
pp. 1470-1474
Author(s):  
Ai Mei Zhang ◽  
Rong Wang ◽  
Kun Sun ◽  
Zheng Ping Jia ◽  
Hua Xie
Keyword(s):  
Gastric Cancer ◽  
Gene Mutation ◽  
Mutation Detection ◽  
Hot Spot ◽  
Point Mutations ◽  
Human Tumor ◽  
Gastric Cancer Tissue ◽  
Cancer Tissue ◽  
Ras Gene ◽  
Codon 61

Mutations of K-ras gene have been proven to play important roles in human tumor progression. Point mutations of K-ras gene located in codons 61 are gene hot spot mutation regions in patients with gastric cancer. A simple and effective capillary electrophoresis (CE) method for point mutation detection in codon 61 of K-ras gene was established. The polymerase chain reaction (PCR) fragments included codon 61 of K-ras gene were analyzed by single-strand conformation polymorphism (SSCP)-CE method. The CE analysis was performed by using a 1×Tris–borate–EDTA (TBE) buffer containing 3.0% (w/v) poly (ethylene oxide) (PEO) (MW 300 000) under reverse polarity with 15 oC and voltage of 15 kV. Forty-two gastric cancer patients were analyzed using this developed method. K-ras gene mutation was found in 17 cases (40.5 %) and the results showed that K-ras gene mutation in gastric cancer tissue is a usual event, and the SSCP-CE was feasible for mutation detection of K-ras gene in populations. Detection of gene mutation of gastric cancer tissue by PCR - SSCP has a certain value to diagnosis of gastric cancer and to prevent gastric cancer associated with clinical and pathological features, living habits of different patients by detection mutation of K-ras gene codon 61.

scholarly journals Single molecule targeted sequencing for cancer gene mutation detection

2015 ◽  
Author(s):  
Yan Gao ◽  
Liwei Deng ◽  
Qin Yan ◽  
Yongqian Gao ◽  
Zengding Wu ◽  
...  
Keyword(s):  
Sample Preparation ◽  
Gene Mutation ◽  
Single Molecule ◽  
Mutation Detection ◽  
Hla Typing ◽  
Targeted Sequencing ◽  
Rapid Decline ◽  
Cancer Gene ◽  
Cancer Genes ◽  
Targeted Capture

With the rapid decline cost of sequencing, it is now clinically affordable to examine multiple genes in a single disease-targeted test using next generation sequencing. Current targeted sequencing methods require a separate step of targeted capture enrichment during sample preparation before sequencing, and the library preparation process is labor intensive and time consuming. Here, we introduced an amplification-free Single Molecule Targeted Sequencing (SMTS) technology, which combined targeted capture and sequencing in one step. We demonstrated that this technology can detect low-frequency mutations of cancer genes. SMTS has several advantages, namely that it requires little sample preparation and avoids biases and errors introduced by PCR reaction. This technology can be applied in cancer gene mutation detection, inherited condition screening and high-resolution human leukocyte antigen (HLA) typing.

GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease

2020 ◽  
Vol 35 (7) ◽  
pp. 1127-1134
Author(s):  
Jalal Gharesouran ◽  
Abbas Jalaiei ◽  
Aida Hosseinzadeh ◽  
Soudeh Ghafouri-Fard ◽  
Zeinab Mokhtari ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Gene Mutation ◽  
Clinical Evaluation ◽  
Pompe Disease ◽  
Mutation Detection ◽  
Activity Analysis ◽  
Turkish Patients ◽  
Gaa Gene
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