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Test kit for alpha-thalassemia gene mutations

A thalassemia, gene technology, applied in the determination/inspection of microorganisms, DNA/RNA fragments, recombinant DNA technology, etc., can solve the problems of pollution, amplification failure, allele dropout, etc.

Active Publication Date: 2015-09-09
PEKING JABREHOO MED TECH CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0006] Although PCR is sensitive, when it is applied to PGD, there are disadvantages such as contamination, allele dropout, and amplification failure.

Method used

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  • Test kit for alpha-thalassemia gene mutations
  • Test kit for alpha-thalassemia gene mutations
  • Test kit for alpha-thalassemia gene mutations

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 110

[0092] Example 1 Pre-implantation detection of 10 embryos with α-thalassemia

[0093] 1. Library construction and sequencing

[0094] According to the whole-genome amplification method, cell DNA was obtained from embryo samples of 10 cases of α-thalassemia patients whose mothers were detected as -3.7 / --SEA, quantified with Qubit (Invitrogen, the Quant-iTTM dsDNA HS Assay Kit), and separated 10ng for subsequent experiments.

[0095] Using the preferred primer set of the present invention (all primer pairs 1-110 in Table 1), according to Ion AmpliSeq TM Library Kits 2.0 standard library building process to build a library The standard library building process to build a library. In short, adapters used for sequencing are added to both ends of the DNA molecules of the multiplex PCR amplification products, and the nucleic acid molecules are grown in clusters under certain conditions, and then sequenced on the Ion Torrent PGM to obtain fragment lengths ranging from 125bp to 275bp...

Embodiment 24

[0109] Example 2 Gene detection of 4 patients with α-thalassemia

[0110] 1. Library construction and sequencing

[0111] Whole blood samples from 4 patients with α-thalassemia were obtained, whole blood DNA was extracted, quantified with Qubit (Invitrogen, the Quant-iTTM dsDNA HS Assay Kit), and 10 ng was isolated for subsequent experiments.

[0112] Using the preferred primer set of the present invention (all primer pairs 1-110 in Table 1), according to Ion AmpliSeq TM Library Kits 2.0 standard library building process to build a library The standard library building process to build a library. In short, adapters used for sequencing are added to both ends of the DNA molecules of the multiplex PCR amplification products, and the nucleic acid molecules are grown in clusters under certain conditions, and then sequenced on the Ion Torrent PGM to obtain fragment lengths ranging from 125bp to 275bp. Target region DNA fragment sequence.

[0113] In this example, the whole blood ...

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Abstract

The invention provides a test kit for alpha-thalassemia gene mutations. The test kit comprises a set of primer combinations for amplifying target genes in samples. The test kit is capable of performing embryo pretransplantation detection for all alpha-thalassemia gene mutations, and is quick in testing process and accurate in testing result.

Description

technical field [0001] The invention relates to the field of genome mutation detection, in particular to human alpha-thalassemia gene detection and human embryo alpha-thalassemia gene detection. Background technique [0002] Thalassemia (hereinafter referred to as thalassemia) is divided into α-thalassemia and β-thalassemia. α-thalassemia (hereinafter referred to as α-thalassemia) is a group of inherited hemolytic hemoglobinopathies characterized by reduced or non-synthesized α-globin chains and an imbalance in the ratio of α-chain / non-α-chain. Thalassemia is one of the most common human monogenic blood diseases in the world. It is listed by the World Health Organization as six common diseases that endanger human health. It is also the most common and most harmful genetic disease in southern China. In the high-incidence areas of α-thalassemia in southern my country, the total incidence rate is 2.46%, and the incidence rates in Guangxi, Guangdong, Jiangxi, Sichuan and Zhejia...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6869C12Q1/6883C12Q2600/156C12Q2600/16C12Q2531/113C12Q2537/143C12Q2535/122
Inventor 冯涛刘小军邢丽贤邓红辉杨凯
Owner PEKING JABREHOO MED TECH CO LTD
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