313 results about "Mutation type" patented technology

The invention discloses a probe and a sequence combination for simultaneous detection of various mutation types and particularly provides a kit, a method, a gene chip, a probe and a sequence combination which are high in sensitivity and specificity and used for simultaneous detection of point mutation, short segment insertion and deletion, copy number variation and fusion genes of 57 tumor driver genes listed in a detection list. The invention further discloses a sequence combination and probe associated gene chip and kit and a method for simultaneous detection of various mutation types. By detection of body fluid including blood, hydrothorax, abdominal dropsy and the like and tumor frozen tissues or paraffin sections, comprehensive tumor driver gene mutation information can be acquired, sensitivity and accuracy in tumor gene detection are improved, and accordingly clinicians can be assisted in making of individualized medication schemes to achieve best accurate treatment effects.

The invention relates to 86 types of particular mutation type atlases of SLC26A4 gene related to hearing loss in Chinese crowd, 27 types of relative hot-spot mutation type atlases and frequency information thereof, 13 types of hotspot mutation type atlases and frequency information thereof, and 2 types of hottest-spot mutation type atlases and frequency information thereof. 59 SLC26A4 gene mutation types are newly discovered in the Chinese crowd, wherein, 47 mutation types lead to the change of encoded protein amino acid of the SLC26A4 gene or influence genetic transcription and translation, 6 mutation types lead to base change rather than the change of amino acid, and 6 types are intron mutation types of the SLC26A4 gene. The discovery has a vital practical significance in developing an SLC26A4 gene diagnosing chip and a kit, which conform to hereditary features of the Chinese crowd suffering hearing loss.

The invention discloses a thalassemia gene detection method based on a high-throughput sequencing technology. The thalassemia gene detection method mainly comprises the following steps that alpha & beta-thalassemia related gene fragments are specifically amplified based on PCR amplification primers of a span breakpoint and a mutation site designed by adopting a Gap-PCR method, library establishment is conducted on PCR products, library products are subjected to high-throughput sequencing, sequencing data uses a human genome hg19 as a reference sequence, sequencing depth values of gene loci in a target area chr16: 215000-236000 are analyzed according to a sequence alignment score Q10, and alpha-thalassemia deletion types are determined according to the distribution of the sequencing depth values of different loci; meanwhile sequence alignment is performed through the target area chr16: 215000-236000 and a target area chr16: 5246400-5248600, and alpha & beta-thalassemia mutation types are determined according to the basic types of specific sites. By the adoption of the thalassemia gene detection method, simultaneous detection of 6 mutation genetypes of alpha-thalassemia and 26 mutation genetypes of beta-thalassemia can be achieved.

The present invention is directed to a method, kit and primers for detecting fetal deafness pathogenic gene mutations. The method of the invention comprises: (a) designing primers according to the pre-determined mutation loci of deafness pathogenic genes; (b) extracting plasma DNAs in a pregnant woman; (c) connecting the extracted plasma DNAs with pre-amplification linkers to obtain connected products; (d) PCR pre-amplifying the connected product to obtain pre-amplified products; (e) cyclizing the pre-amplified products to obtain cyclised DNAs; (f) PCR amplifying the cyclised DNAs using the designed primers to obtain amplified products; and (g) high throughput sequencing the amplified products and analyzing the mutations of the fetal deafness pathogenic genes. The invention can effectively determine whether the pre-determined loci on deafness pathogenic genes have been mutated as well as the mutation type.