56 results about "Mutational analysis" patented technology

The invention presents a method for examining genetic material (deoxyribonucleic acid, DNA) to detect the presence of pre-known mutations, especially single nucleotide polymorphisms (SNP), using mass spectrometry with ionization by matrix-assisted laser desorption (MALDI). The invention uses nucleoside triphosphates with modified sites for the method of primer extension in a duplicating, enzymatic reaction and at least partially removal of primers from the extension product, in combination with product neutralization by chemical treatment of the modified sites, so that the resulting DNA products can be, by using special matrix materials, preferredly ionized in an adduct-free form over other constituents in the reaction solution without any further cleaning. The method is particularly suitable for simultaneous identification of several mutations by multiplexing.

A method for analysing genetic mutations, and in particular single nucleotide polymorphisms (SNPs) and / or somatic mutations, is described, as well as methods for preferentially amplifying one allelic form compared with another form. The methods use an oligonucleotide probe which hybridises to a first allele with a lower melting temperature (Tm) than that with which it hybridises to a second allele, together with amplification primers which flank the oligonucleotide probe binding site and which bind to the sample with a higher Tm than that of the probe and the first allele. An amplification reaction may be carried out at a temperature such that the probe is preferentially hybridised to the second allele, thereby amplifying the first allele. The amplified sequences may be detected using the same probe as acted as the blocking probe during amplification.

The invention provides a tumor mutation site screening and mutual exclusion gene mining system. The system comprises a filtering module which is used for filtering a vcf file and an ANNOVAR software output file in an exome processing process; an analysis module which is used for carrying out description analysis on different experiment group mutation sites; a gathering module which is used for gathering mutation genes of each sample and establishing a mutation gene matrix according to an experiment group mutation gene list; and a mining module which is used for carrying out Fisher precise checking based mutual exclusion and co-mutation analysis on the generated mutation gene matrix, thereby determining mutual exclusion and co-mutation genes. According to system, the mutation sites are filtered according to basic parameters such as annotation information of the mutation sites, the sequencing read number and site sequencing depth; and description analysis of different experiment group mutation modes and mining of co-mutation and mutual exclusion gene sets are carried out on the obtained mutation sites.

The present invention relates to a method for mutation analysis of the HIV pol gene of HIV virions comprising amplifying virion RNA or DNA via nested PCR using outer primers as represented in SEQ ID No. 1 and 2, amplifying said PCR product via nested PCR using a 5′ and 3′ primer chosen from the inner primers SEQ ID No. 3, 4, 5, and 6, and sequencing this secondary obtained PCR product using at least one sequencing primer chosen from any of SEQ ID No. 7 to 12 or variants thereof. In the alternative, at least one secondary sequencing primer may be used chosen from any of SEQ ID No. 13 to 24. The benefit of the sequences present in the invention resides in the fact that, with the aid of the oligonucleotides, the sequences of all presently known HIV subtypes and all mutations of the pol gene presently known to yield resistance towards antiretroviral therapy can be determined. The present invention also relates to kits for performing such a method as well as primers for performing the same.

The invention relates to a method and probe sequence for detecting FGFRs gene mutation based on high-throughput sequencing. The method comprises the following steps of 1) co-extracting genome DNA andtotal RNA of a sample; 2) fragmenting the genome DNA and recovering the fragmented DNA; 3) performing total RNA interruption and / or primer hybridization according to the total RNA quality control condition; 3) synthesizing a first strand of cDNA; 4) synthesizing a second strand of the cDNA; 5) mixing the fragmented DNA with the cDNA to construct a mixed library; 6) performing hybridization and capture by adopting a capture probe; 7) performing library amplification and purification after capture; and 8) performing high-throughput sequencing and mutation analysis. According to the invention, single base mutation, insertion and deletion mutation, fusion mutation and relative expression quantity analysis of FGFR1, FGFR2, FGFR3 and FGFR4 genes can be detected.

The present disclosure relates to methods of monitoring bladder cancer patients and analyzing patient samples for presence of methylated DNA and optionally particular gene mutations. In some embodiments, analysis results are correlated with clinical outcome measures such as risk of bladder cancer recurrence.

The application relates to a method of a predicting the presence of invasive pancreatic cancer or high grade dysplasia, pre-cancerous pancreatic states and non-neoplastic conditions comprising detailed molecular analysis incorporating DNA quality and quantity, K-ras mutational analysis and a broad spectrum of tumor suppressor gene linked microsatellite LOH. Methods of diagnosing, determining prognosis of and determining a course of treatment for pancreatic cancer or high grade dysplasia, pre-cancerous pancreatic states and non-neoplastic conditions are also provided.

The invention discloses a kit for detecting CYP3A4*4 genetyping, belongs to the testing field of in-vitro nucleic acid, and particularly relates to a pyrophosphoric kit for detecting CYP3A4*4 genetyping. The pyrophosphoric kit for detecting CYP3A4*4 genetyping comprises uracil DNA (deoxyribonucleic acid)glycosylase, Taq polymerase, a PCR (Polymerase Chain Reaction) amplimer and a sequencing primer. The pyrophosphoric kit provided by the invention has high sensitivity and good specificity; and after simple treatment, a PCR product can be subjected to sequencing by utilizing phosphoric acid sequencing instrument, the operation is simple and convenient, the reaction time is short, the sequencing operation by adopting the pyrophosphoric kit provided by the invention has higher sensitivity when being compared with a gold-standard CE (capillary electrophoresis) sequencing operation, thus the pyrophosphoric kit is particularly suitable for mutation analysis.

The present invention relates to a method for mutation analysis of the HIV pol gene of HIV virions comprising amplifying virion RNA or DNA via nested PCR using outer primers as represented in SEQ ID No. 1 and 2, amplifying said PCR product via nested PCR using a 5′ and 3′ primer chosen from the inner primers SEQ ID No. 3, 4, 5, and 6, and sequencing this secondary obtained PCR product using at least one sequencing primer chosen from any of SEQ ID No. 7 to 12 or variants thereof. In the alternative, at least one secondary sequencing primer may be used chosen from any of SEQ ID No. 13 to 24. The benefit of the sequences present in the invention resides in the fact that, with the aid of the oligonucleotides, the sequences of all presently known HIV subtypes and all mutations of the pol gene presently known to yield resistance towards antiretroviral therapy can be determined. The present invention also relates to kits for performing such a method as well as primers for performing the same.