相关实验视频

Updated: Jun 7, 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

在非综合征性聋症中分析TRIOBP基因:一个病例报告

Hong Zhou¹, Gang Guo¹, Jianjun Gao¹

¹Affiliated Hospital of Inner Mongolia Medical University, Hohhot, P.R. China.

|November 13, 2024

概括

基因调查在一个非综合征性聋家族中发现了一种新的TRIOBP基因突变. 这一发现扩大了已知的导致聋的基因突变谱.

科学领域:

遗传学遗传学是一个
听力学听力学是指听力学.
分子生物学分子生物学

背景情况:

进行了家庭调查和听力学分析,以了解遗传性听力损失.
高通量测序被用来选试验组中的聋基因.
桑格测序被用来确认家族内可疑的致病性遗传变异.

研究的目的:

确定非综合征性聋的家庭中听力损失的遗传原因.
分析与听力障碍相关的听力学特征和遗传突变.
选和验证对试验对象和受影响的家庭成员的聋负责的基因.

主要方法:

基于家族的遗传映射和听觉的表型.
高通量测序用于初始查与聋相关的基因.
桑格测序用于验证已识别的遗传变异.

主要成果:

所有8个家庭成员都出现了非综合征性聋.
试验对象在TRIOBP基因 (c.A4484T/c.A4510G) 中表现出复合异构基因突变.
在各种家族成员中,在TRIOBP,CHD7和CHD23基因中发现了额外的异构基因突变,其中一些是新鲜的.

结论:

在TRIOBP基因中发现了一种新的基因位点,有助于了解它在聋症中的作用.
这项研究成功地澄清了试验对象聋的致病基因.
需要进一步分析,以阐明其他家庭成员耳聋的遗传病因.

更多相关视频

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

Assessment of Audio-Tactile Sensory Substitution Training in Participants with Profound Deafness Using the Event-Related Potential Technique

Assessment of Audio-Tactile Sensory Substitution Training in Participants with Profound Deafness Using the Event-Related Potential Technique

Published on: September 7, 2022

相关概念视频

Pedigree Analysis

Pedigree Analysis

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,...

Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

Genetic Lingo

Genetic Lingo