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Method for genetic testing in single cells by HRM (high resolution melting) and pyrosequencing

A pyrosequencing and single-cell technology, applied in the medical field, can solve problems such as long SNP time, achieve rapid detection methods, eliminate diseases, and improve population quality

Inactive Publication Date: 2017-05-10
ZHEJIANG UNIV
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Problems solved by technology

[0011] The purpose of the present invention is to provide a method for genetic detection in single cells using high-resolution melting analysis (high-resolutionmelting analysis, HRM) and pyrosequencing, aiming to solve the problem of mutation sites and SNPs analyzed by generation sequencing in the process of PGD diagnosis. long time problem

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  • Method for genetic testing in single cells by HRM (high resolution melting) and pyrosequencing
  • Method for genetic testing in single cells by HRM (high resolution melting) and pyrosequencing
  • Method for genetic testing in single cells by HRM (high resolution melting) and pyrosequencing

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Embodiment Construction

[0055] In order to make the objectives, technical solutions and advantages of the present invention clearer, the present invention will be further described in detail below in conjunction with embodiments. It should be understood that the specific embodiments described herein are only used to explain the present invention, but not to limit the present invention.

[0056] The method for genetic detection in single cells using HRM and pyrosequencing provided in the embodiment of the present invention includes:

[0057] Use high-throughput sequencing to analyze haplotypes in families with single-gene genetic diseases;

[0058] Establish an analysis method for mutation detection and SNP typing based on HRM and pyrosequencing technology using single-cell whole-genome amplification products as templates;

[0059] The application principle of the present invention will be described in detail below in conjunction with specific embodiments.

[0060] Such as figure 1 As shown, the method for gen...

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Abstract

The invention belongs to the technical field of medical science and discloses a method for genetic testing in single cells by HRM (high resolution melting) and pyrosequencing. By high-throughput sequencing for haplotype analysis of a single-gene inheritance disease family, an analysis method for mutation detection and SNP (single nucleotide polymorphism) by adoption of a single-cell whole genome amplification product as a template on the basis of HRM and pyrosequencing is established. The method can be applied clinically directly to provide fast detection means for PGD (preimplantation genetic diagnosis) diagnosis of patients suffering from single gene inheritance diseases.

Description

Technical field [0001] The invention belongs to the field of medical technology, and in particular relates to a method for genetic detection in single cells using HRM and pyrosequencing. Background technique [0002] Preimplantation genetic diagnosis (PGD) refers to the biopsy of blastomere or blastocyst trophoblast cells of embryos or eggs, chromosome and (or) genetic testing, and then transplantation of embryos without genetic diseases. Into the maternal uterus is a new diagnostic technique derived from assisted reproduction, molecular biology and genetics. In 1990, the world's first baby girl diagnosed by PGD was born in the UK. Since then, PGD technology has developed rapidly. In the late 1990s, PGD began to spread. At present, 7693 PGD cycles of single gene diseases have been reported worldwide. The basic steps are to obtain fertilized eggs through in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI), obtain 1-2 embryonic cleavage cells through embryo bi...

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6869C12Q2535/122C12Q2565/301
Inventor 王丽雅金帆董旻岳
Owner ZHEJIANG UNIV
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