相关实验视频

Updated: Jun 22, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.6K

通过基因了解拷贝数变异:对16p11.2删除和重复综合征的分子观点

Roberta Leone1, Cecilia Zuglian1, Riccardo Brambilla1,2

  • 1Università di Pavia, Dipartimento di Biologia e Biotecnologie "Lazzaro Spallanzani", Pavia, Italy.

Frontiers in pharmacology
|July 1, 2024
PubMed
概括

16p11.2的副本数变异 (CNV) 与自闭症和精神分裂症等神经发育障碍 (NDD) 有关. 研究模型揭示了神经生理变化,并突出了MVP和MAPK3作为这些综合征的潜在治疗点.

关键词:
16p11.2 CNV CNV 16p11.2 CNV CNV是指CNV是指CNV是指CNV是指CNV的意思.在MAPK3中使用MAPK3动物模型动物模型基底性腺 (Basal Ganglia) 是一个激发/抑制 (E/I) 不平衡诱导多能干细胞 (iPSC) 是一种诱导多能干细胞.智力障碍 智力障碍是一种智力障碍.神经发育障碍 神经发育障碍

更多相关视频

Comparative Lesions Analysis Through a Targeted Sequencing Approach08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.7K
Detection of Copy Number Alterations Using Single Cell Sequencing09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

11.6K

相关概念视频

Comparing Copy Number Variations and SNPs02:26

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%...
17.7K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.0K
Karyotyping01:17

Karyotyping

Overview
59.8K
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
6.1K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.3K
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
4.2K