相关实验视频

Updated: May 13, 2026

Identifying Mutations by High Resolution Melting in a TILLING Population of Rice
06:10

Identifying Mutations by High Resolution Melting in a TILLING Population of Rice

Published on: September 2, 2019

7.3K

在中国南部的贵州省,大规模分析了血病突变谱,使用第三代测序

Ying Zhang1,2, Jiangfen Wu3, Lingyan Ren3

  • 1College of Medical Laboratory, Zunyi Medical University, Zunyi, Guizhou, China.

Clinical genetics
|March 17, 2025
PubMed
概括

这项研究显示,中国贵州的高血病携带者率为19.58%,区域差异很大. 阿尔法和β-thalassemia的遗传多样性和独特的突变模式强调了需要量身定制的查.

关键词:
血红蛋白异常 血红蛋白异常突变频谱中的突变泰拉塞米亚症是一种疾病.第三代测序系统是第三代测序系统.

更多相关视频

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.0K
Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues07:17

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

960

相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...