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Cancers Originate from Somatic Mutations in a Single Cell

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...

Cancers Originate from Somatic Mutations in a Single Cell

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...

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相关实验视频

Updated: Jun 17, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

通过单细胞全基因组测序分析体质突变.

Lei Zhang^1,2, Moonsook Lee³, Alexander Y Maslov^3,4

¹Institute on the Biology of Aging and Metabolism, University of Minnesota, Minneapolis, MN, USA. zhan8273@umn.edu.

Nature protocols

|November 23, 2023

概括

这项研究引入了单细胞全基因组测序的新协议,以发现和分析体质突变. 这种方法可以准确地识别单个细胞中的遗传变异,这对于了解癌症等疾病至关重要.

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Published on: November 5, 2019

相关实验视频

Last Updated: Jun 17, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Detection of Copy Number Alterations Using Single Cell Sequencing

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

科学领域:

基因组学就是基因组学.
分子生物学分子生物学
生物信息学是一种生物信息学.

背景情况:

身体突变导致癌症,非癌症疾病和衰老.
大多数体质突变是细胞特异的,具有挑战性的批量DNA测序.
了解单个细胞突变是疾病研究的关键.

研究的目的:

提出单细胞全基因组测序的详细方案.
为了能够发现和分析个体细胞中的体质突变.
为研究基因组马赛克主义提供一个全面的方法.

主要方法:

单细胞多位位移放大 (SCMDA) 用于高效和高保真度的DNA放大.
SCcaller软件工具用于准确调用单核酸变异和小插入/删除.
综合协议涵盖细胞隔离,全基因组放大,图书馆准备,测序和计算分析.

主要成果:

该协议实现了高基因组覆盖率和单细胞变异调用精度.
它有效地使用SCMDA和SCcaller过放大器件.
与替代方法相比,提供了一种简化程序,步骤较少.

结论:

该协议提供了一种可靠的方法,用于在单细胞水平上进行全面的体质突变分析.
它适用于各种人类和动物组织,用于研究突变发生和基因组马赛克.
促进对体突变在健康和疾病中的作用的研究.