相关实验视频

Updated: Jun 20, 2025

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

导致G6PC3缺陷的创始突变的分子和临床特征

Xin Zhen¹, Michael Betti¹, Meltem Ece Kars²

¹Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center.

Research square

|July 23, 2024

概括

导致先天性中性缺陷的G6PC3 c.210delC突变起源于墨西哥土著人口中的创始人效应. 这种功能丧失的变体导致糖分分解受损,并呈现出典型的G6PC3缺乏症症状.

科学领域:

免疫代谢过程中的免疫代谢.
遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

G6PC3 缺乏症是一种罕见的单一性疾病,其特征是综合性先天性中性质疏松症.
患者表现出各种各样的血液外症状,往往导致诊断延迟.
墨西哥裔患者中G6PC3 c.210delC变种普遍存在.

研究的目的:

为了调查G6PC3 c.210delC变种的起源.
阐明这种突变对G6PC3蛋白和细胞代谢的功能后果.
将c.210delC变异患者的临床表型与其他G6PC3缺乏个体进行比较.

主要方法:

哈普洛型分析以推断创始人效应和祖先.
在过度表达和患者衍生的细胞中分析蛋白质表达.
细胞外流量测试用于评估患者细胞中的糖解功能,这些细胞被用1,5-基醇 (1,5-AG) 治疗.

主要成果:

G6PC3 c.210delC变种源于墨西哥土著人口中的创始人效应.
突变导致异常的G6PC3蛋白表达和受损的葡萄糖分解,在1,5-AG的存在下,其代谢活性降低.
在c.210delC载体中,临床表现与之前报告的G6PC3缺陷表型一致.

结论:

G6PC3 c.210delC代表了一种功能丧失突变,在墨西哥人口中具有特定的起源.
结果可能有助于诊断该地区的其他患者.
使用1,5-AG的体外测试可以评估新型G6PC3变异的致病性.

关键词:

在G6PC3缺陷中.免疫的天生的错误免疫的天生的错误这是创始人效应.代谢功能障碍代谢功能障碍原发性免疫缺陷是一种免疫缺陷.严重的先天性中性质缺血症.

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

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

相关概念视频

Inborn Errors of Metabolism

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...