相关实验视频

Updated: Jun 22, 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

通过向的NGS分析对191名患有遗传视网膜发育不良的试验者的遗传特征

Alessandra Mihalich^1,2, Gabriella Cammarata², Gemma Tremolada²

¹Molecular Biology Laboratory, Istituto Auxologico Italiano IRCCS, 20145 Milan, Italy.

|June 27, 2024

概括

使用目标下一代测序 (NGS) 的分子测试有效诊断遗传视网膜疾病 (IRD). 家庭隔离研究提高了诊断产量,特别是对于特定的IRD,如Stargardt病和CSNB2.

科学领域:

眼科医生眼科眼科
遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

遗传性视网膜疾病 (IRD) 是视力丧失的常见原因,其特点是显著的遗传和表型异质性.
准确的IRD分子诊断通常需要基因检测,因为大量的相关基因 (>340).

研究的目的:

评估针对性下一代测序 (NGS) 在IRD患者队列中的分子遗传诊断的有效性.
评估家庭隔离研究对诊断产量的影响.

主要方法:

针对性下一代测序 (NGS) 对191名怀疑IRD的个人进行了测序.
对67名受试者进行了家庭隔离分析,涉及126名亲属.
鉴定和分类遗传变异,重点关注新型变异和诊断产量.

主要成果:

通过使用向的NGS.实现了41%的遗传诊断产量.
对特定疾病观察到更高的诊断产量:斯塔格特病 (65%) 和先天性静止夜盲2 (64%).
当进行家庭隔离分析时,诊断产量增加到68%,并且在年轻患者中 (55%) 与老年患者 (33%) 相比更高.

结论:

向性NGS是一种有效的工具,用于在IRD患者中建立分子遗传诊断.
家庭隔离研究对于确认病原性和改善诊断率至关重要,特别是对于未知意义的变异.

关键词:

美国的IRD是什么?没有NGS,没有NGS.基因诊断基因诊断基因诊断

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

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

Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...