相关实验视频

Updated: Jul 8, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

外体序列检测显示PPEF2变异与高近视相关

Sili Jing¹, Xianglong Yi²

¹Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital of Northwest University, Xian, 710004, China; Ophthalmology, Xinjiang Medical University Affiliated First Hospital, Urumqi, Xinjiang, China.

|December 18, 2023

概括

遗传因素有助于高近视 (HM),这是一个令人失明的眼睛疾病. 研究人员在维吾尔族家庭中发现了一种与HM相关的新型PPEF2基因变异,这表明它在近视发展中的作用.

科学领域:

眼科医生眼科眼科
遗传学遗传学是一个
分子生物学分子生物学

背景情况:

高近视 (HM) 是导致失明的重要原因.
遗传因素对HM发育至关重要.
识别与HM相关的新型基因对于理解其发病过程至关重要.

研究的目的:

为了识别与非综合征性高近视相关的新型遗传变异.
研究PPEF2基因在HM发育中的作用.
为了阐明已识别的PPEF2变体的功能影响.

主要方法:

整个外基因组测序 (WES) 用于选HM的大型维吾尔族家庭的变异.
桑格测序被用来验证变体共分离.
在零星的HM病例中进行了多重PCR向片序列 (MTA-seq).
免疫光 (IF) 和免疫组织化学 (IHC) 试验评估了PPEF2表达模式.
在体外测试评估了鉴定变异的功能后果.

主要成果:

在一个感染HM.M.的维吾尔族家庭中,发现了PPEF2基因中的新型c.A875G变异.
在家族中,c.A875G变种与HM共同分离.
另一个新型变种,c.1959C > G,在一个零星的HM病例中被发现.
PPEF2主要表达在视网膜色素上皮质,胆膜和视网膜组织中.
这种c.A875G变体降低了PPEF2蛋白水平,并降低了细胞迁移和增殖,同时促进了细胞亡.

结论:

确定PPEF2是一种涉及高近视的新型基因.
鉴定到的PPEF2变种可能会通过影响相关细胞的迁移,增殖和亡来引起HM.
这些发现有助于理解高近视的遗传基础.

关键词:

高度的myoipaipa是什么意思在PPEF2中,PPEF2是PPEF2.变种变种变种变种整个外基因组的测序.

更多相关视频

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

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

相关概念视频

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Genetic Lingo

Genetic Lingo