Method and device for detecting thalassemia gene variation

A technology for thalassemia and gene variation, applied in genomics, instrumentation, proteomics, etc., can solve problems such as missed detection

Pending Publication Date: 2020-06-23
深圳市早知道科技有限公司
View PDF3 Cites 0 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

In the past, low-throughput methods such as GAP-PCR and reverse dot blot (RDB) methods were commonly used in blood analysis, and generally only detect 3-5 common Chinese people. Alpha (alpha, α) thalassemia deletion ty

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • Method and device for detecting thalassemia gene variation
  • Method and device for detecting thalassemia gene variation
  • Method and device for detecting thalassemia gene variation

Examples

Experimental program
Comparison scheme
Effect test

example 1

[0134] genotype:

[0135] alpha: αα / αα

[0136] beta:β^N / IVS-II-1

[0137] KLF1:K^N / K^N

[0138] Predicted Phenotype: Thalassemia Minor

example 2

[0140] genotype:

[0141] alpha: αα / αα

[0142] beta:β^N / β^N

[0143] KLF1:K^N / K^N

[0144] Predicted phenotype: normal

[0145] The present invention can obtain related variation results and phenotype prediction of various thalassemias through one-time sequencing, and has the characteristics of high throughput, high sensitivity and high specificity. This method has strong scalability. In the case of existing genome-wide data, newly discovered loci associated with thalassemia can be added to the detection range of this method through simple database updates. Because the variation detected by this method is more comprehensive than that of traditional methods, this method can additionally provide a comprehensive phenotype prediction of thalassemia that previous tools did not have.

[0146]The present invention discloses a method for detecting thalassemia gene variation based on next-generation sequencing in the field of biological information technology, which can detect var...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to view more

PUM

No PUM Login to view more

Abstract

The embodiment of the invention discloses a method and a device for detecting thalassemia gene variation and a computer readable storage medium, which are used for detecting most variation related tothalassemia by utilizing one-time sequencing and predicting a phenotypic result of an individual thalassemia disease according to a variation detection result. The method provided by the embodiment ofthe invention comprises the following steps: acquiring copy number variation information related to thalassemia, point mutation information related to thalassemia and whole genome sequencing data ofa to-be-detected sample; obtaining a copy number variation result of the to-be-detected sample according to the copy number variation information related to thalassemia and the whole genome sequencingdata of the to-be-detected sample; obtaining a point mutation result of the to-be-detected sample according to the point mutation information related to the thalassemia disease and the whole genome sequencing data of the to-be-detected sample; and obtaining a phenotypic result for predicting thalassemia according to the copy number variation result and the point mutation result.

Description

technical field [0001] The invention relates to the field of thalassemia, in particular to a method for detecting thalassemia gene variation, a detection device, and a computer-readable storage medium. Background technique [0002] Thalassemia, referred to as thalassemia, is a hemoglobin disease. Thalassemia is widely distributed in southern China. There are various types of thalassemia variants, and there are 504 types included in the HbVar database alone. In the past, low-throughput methods such as GAP-PCR and reverse dot blot (RDB) methods were commonly used in blood analysis, and generally only detect 3-5 common Chinese people. Alpha (alpha, α) thalassemia deletion type copy number variation and 17-25 common beta (beta, β) thalassemia point mutations in Chinese, there are more rare variant types that have not been detected by these tests Coverage, resulting in easy missed detection. Contents of the invention [0003] Embodiments of the present invention provide a m...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to view more

Application Information

Patent Timeline
no application Login to view more
IPC IPC(8): G16B20/10G16B30/00
CPCG16B20/10G16B30/00
Inventor 何恩明笑天康康李腾唐森威郑强陈钢
Owner 深圳市早知道科技有限公司
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Try Eureka
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap