相关实验视频

Updated: May 30, 2025

High-throughput DNA Extraction and Genotyping of 3dpf Zebrafish Larvae by Fin Clipping

High-throughput DNA Extraction and Genotyping of 3dpf Zebrafish Larvae by Fin Clipping

Published on: June 29, 2018

在胎儿异常中识别新型异质性PI4KA变异

Chen Cheng¹, Fan Yang¹, Xinlin Chen¹

¹Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China.

BMC medical genomics

|January 30, 2025

概括

在产前发现了新的PI4KA变体,导致胎儿肠道阻塞. 功能性研究证实,这些变体会破坏RNA剪接并损害PI4KA酶活性,影响胎儿发育.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
胎儿医学胎儿医学

背景情况:

与PI4KA相关的疾病呈现出不同的症状,包括神经问题,胃肠道问题和免疫缺陷.
产前检测PI4KA变体对于了解胎儿发育影响至关重要.

研究的目的:

在产前查中检测到的新型PI4KA变异的识别和特征.
评估这些变异对胎儿发育和PI4KA酶活性的功能影响.

主要方法:

胎儿超声波和MRI用于成像.
整体外体序列 (WES) 用于变体检测,通过桑格序列验证.
生物信息学,小基因拼接试验和酶活性试验用于功能分析.

主要成果:

产前超声波和MRI显示胎儿肠道阻塞.
已经确定了复合异性PI4KA变体 (c.2802_2863-40del和c.2819C>T [p.Ala940Val]).
c.2802_2863-40del变异改变了mRNA剪接,而c.2819C>T显著降低了PI4KA酶活性.

结论:

这项研究扩大了已知的PI4KA突变谱.
已识别的PI4KA变异影响RNA剪接和酶功能,导致胎儿异常.
这些发现为产前遗传咨询提供了有关PI4KA相关疾病的指导.

关键词:

胎儿胎儿胎儿胎儿胎儿胃肠道异常胃肠道异常皮4卡 (PI4KA) 是一个名字.通过RNA拼接进行RNA拼接.

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

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

相关概念视频

piRNA - Piwi-interacting RNAs

piRNA - Piwi-interacting RNAs

PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while only 2000 genes have been found for miRNAs. piRNAs can act at the transcriptional and post-transcriptional levels and have a vital role in silencing transposable elements present in germ cells. They are also involved in epigenetic silencing and activation. Previously, they were thought to function only in germ cells but new evidence suggests...