相关实验视频

Updated: Jun 29, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

鉴定已知单一性糖尿病患者的致病基因变异,使用单中心研究中的目标下一代测序小组

Kaoru Takase¹, Shinji Susa¹, Hidenori Sato²

¹Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Faculty of Medicine, Yamagata University, 2-2-2 Iida-nishi, Yamagata, 990-9585 Japan.

Diabetology international

|March 25, 2024

概括

有针对性的下一代测序 (NGS) 有效地诊断了患者的单一性糖尿病. 这种基因测试方法证实了已知的变异,并确定了新的变异,有助于诊断糖尿病.

科学领域:

遗传学和基因组学在
内分泌学在内分泌学.
分子诊断学分子诊断

背景情况:

单基因糖尿病是糖尿病的一个子集,是由单基因突变引起的.
准确的诊断对于适当的治疗和遗传咨询至关重要.
传统的诊断方法可能耗时,可能不涵盖所有相关基因.

研究的目的:

评估针对性下一代测序 (NGS) 在临床环境中诊断单一性糖尿病的实用性.
在疑似单一性糖尿病患者中识别致病性遗传变异.
在单中心研究中评估基于片的NGS面板的效率.

主要方法:

开发了一个基于安普利康的NGS小组,针对34个与单一性糖尿病相关的基因.
在56名患有自抗体阴性糖尿病的患者进行了整体外体测序,这些患者在50岁之前被诊断出患有严重肥胖症,而没有严重肥胖.
生物信息分析根据等位基频率和功能预测过了变体,并使用家族史评估了病原性.

主要成果:

在16名患者中确定了16种候选致病变体.
证实了GCK和WFS1基因中的两个已知的致病变体.
在HNF4A中发现了两种新型的潜在有害变异,这表明单一的原因.

结论:

有针对性的NGS小组测试是诊断各种形式的单一性糖尿病的宝贵工具.
将NGS与家族分析结合起来,可以提高诊断准确度.
为了实现该技术的常规临床应用,还需要进一步的改进.

关键词:

儿童发病糖尿病儿童发病糖尿病基因分析基因分析单一的糖尿病单一的糖尿病这是下一代测序.有针对性的面板测序.

更多相关视频

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

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

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...

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,...