相关实验视频

Updated: May 27, 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

两种GNPTAB变异在一个中国家庭中引起粘脂症IIα/β

Jingxin Yang¹, Chao Liu¹, Qian Geng¹

¹Medical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong Province, China.

Fetal and pediatric pathology

|February 17, 2025

概括

这项研究确定了GNPTAB基因中的新型拷贝数变异 (CNV),扩大了已知IIα/β (MLII) 粘脂症的遗传原因. 这一发现有助于对这种罕见疾病进行遗传诊断.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
儿科儿科儿科

背景情况:

粘脂症IIα/β (MLII) 是一种罕见的自体逆向性疾病.
ML II的特点是面形和骨变形.
已知GNPTAB基因中的遗传变异会导致ML II.

研究的目的:

在儿科患者中确定ML II的遗传原因.
描述一种与ML II相关的新型遗传变异.
为ML II建立产前诊断能力.

主要方法:

进行了临床整体外体序列 (WES) 测序.
量化PCR (qPCR),差距PCR和桑格测序用于变体验证.
对副本数量变化 (CNV) 进行了断点分析.

主要成果:

在GNPTAB基因中,WES发现了一个点变异 (c.1090C>T,p.R364*) 和一个CNV.
患者血液中的GNPTAB基因表达减少.
新的CNV的断点已经准确地绘制出来 (NC_000012.11:g.102136912_102142973del).
产前诊断成功地进行了患者的母亲.

结论:

这是GNPTAB中与ML II相关的新型CNV的第一个报告.
这些发现扩大了ML II的已知基因型的范围.
这项研究有助于改善ML II的遗传诊断和咨询.

关键词:

国内生产总值 (GNP)粘脂症IIα/ββα 类型桑格尔测序是什么意思自体逆行性自体逆行性.有针对性的外测序.

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

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

Pedigree Analysis

Pedigree Analysis

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

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,...