相关实验视频

Updated: Jun 24, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

在一个大规模的基因型队列中检测出导致林奇综合征的主要MLH1创始变异

Lauri J Sipilä^1,2,3, Mervi Aavikko^1,2,4, Janne Ravantti^1,2,5

¹Department of Medical and Clinical Genetics, University of Helsinki, Biomedicum Helsinki Haartmaninkatu 8), PO Box 63, 00014, Helsinki, Finland.

Familial cancer

|June 7, 2024

概括

在芬兰的一个常见的MLH1基因缺失,导致林奇综合征 (LS),在人口基因定型数据中被确定. 这种方法可以帮助在大群体中检测遗传性癌症风险.

科学领域:

遗传学遗传学是一个
在瘤学瘤学.
人口健康人口健康

背景情况:

林奇综合征 (LS) 是一种主要的遗传性癌症倾向综合征.
一个特定的MLH1外型16删除占芬兰LS病例的50%,源自创始人变异.
识别载体对于早期检测和预防策略至关重要.

研究的目的:

试验一种方法来检测MLH1外因子16删除变异在一个大规模的,基因型的芬兰人口队列 (FinnGen).
验证已识别的携带者,并评估变种与癌症诊断之间的关联.
探索全人口SNP基因定型的实用性,用于识别遗传性癌症倾向变体.

主要方法:

从LS患者的全基因组序列中确定了一种围绕MLH1外因子16删除的共识序列.
从FinnGen队列中的212,196个个体的基因型数据中查询了与该序列的匹配.
用PCR试验验证了个体子集的变异状态,并分析了癌症数据的丰富度和发病年龄.

主要成果:

348个个体显示了等位基匹配,癌症诊断 (p=1) 和家族癌症史 (p<.001) 的显著丰富.
癌症发病的平均年龄在携带者中为53.6岁 (p=.002).
验证证实,中芬兰生物银行发现的22%的潜在承运人是真正的承运人.

结论:

开发的工作流程有效地从全人口SNP基因定型数据中识别MLH1外形16删除载体.
大型基因型队列是识别具有遗传癌症倾向的个体的宝贵资源.
需要进一步细化,以尽量减少变种检测中的错误阳性结果.

关键词:

生物银行生物银行基因型关联是基因型的关联.林奇综合征是什么? 林奇综合征是什么?不匹配的修复缺陷的缺陷个性化医疗是个性化的医疗.

更多相关视频

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

相关概念视频

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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...