相关实验视频

Updated: Jul 24, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

使用sno-lncRNAs作为普拉德-威利综合征诊断的潜在标记物

Jiu-Ru Sun¹, Liang-Zhong Yang², Yang-Li Dai³

¹Key Laboratory of Systems Health Science of Zhejiang Province, School of Life Science, Hangzhou Institute for Advanced Study, University of Chinese Academy of Sciences, Hangzhou, China.

|July 5, 2023

概括

血液样本中没有snoRNA终结的长非编码RNA3 (sno-lncRNA3),可以诊断出普拉德-威利综合征 (PWS). 这种通过RT-qPCR或CRISPR检测到的RNA标志物有助于早期PWS诊断和治疗.

科学领域:

遗传学遗传学是一个
分子生物学分子生物学
生物化学生物化学

背景情况:

普拉德-威利综合征 (PWS) 是一种遗传性疾病,由15q11-q13.染色体中父性表达基因的丧失引起.
早期PWS诊断对于有效的治疗和症状管理至关重要.
目前的PWS诊断主要依赖于DNA水平分析,有限的RNA水平诊断工具.

研究的目的:

为了识别普拉德-威利综合征的基于RNA的新型诊断标记.
评估来自SNORD116位点的snoRNA末端长非编码RNA (sno-lncRNA) 作为PWS生物标记物的潜力.
开发和验证用于PWS诊断的敏感RNA检测方法.

主要方法:

使用RT-qPCR对PWS和非PWS个体的全血和干血样本中sno-lncRNA3的量化.
开发一种CRISPR-MhdCas13c系统,用于高度敏感的RNA检测.
使用RT-qPCR和CRISPR-MhdCas13c.c.进行sno-lncRNA3检测的验证

主要成果:

一个来自SNORD116位点的sno-lncRNAs,特别是sno-lncRNA3,被确定为潜在的诊断标记.
在非PWS个体中,sno-lncRNA3的定量约为6000副本/μL.
与对照组 (n=42个全血,n=24个干血) 相比, sno-lncRNA3 在所有测试的PWS个体 (n=8个全血,n=35个干血) 中始终缺席.
CRISPR-MhdCas13c系统检测到sno-lncRNA3的灵敏度为10分子/μL,证实其不在PWS样本中.

结论:

血液样本中没有sno-lncRNA3是PWS诊断的可靠指标.
RT-qPCR和CRISPR-MhdCas13c是有效的,敏感的和方便的方法来检测sno-lncRNA3.
这种基于RNA的诊断方法可利用最少的血液样本进行早期PWS检测.

关键词:

这就是CRISPR-Mhdcas13cc.普拉德 - 威利综合征是什么检测RNA检测RNA的检测这是Sno-lncRNA3的.它们是sno-lncRNAs.诊断标志物是一个诊断标志物.干燥的血液斑点干燥的血液斑点全身血液样本血液样本

更多相关视频

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

High-throughput Functional Screening using a Homemade Dual-glow Luciferase Assay

High-throughput Functional Screening using a Homemade Dual-glow Luciferase Assay

Published on: June 1, 2014

相关概念视频

lncRNA - Long Non-coding RNAs

lncRNA - Long Non-coding RNAs

In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...

Non-LTR Retrotransposons

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...

Single Nucleotide Polymorphisms-SNPs

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,...