新的副本数突变与自闭症有着强烈的关联
Jonathan Sebat1, B Lakshmi, Dheeraj Malhotra
1Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA. sebat@cshl.edu
概括
新发现的遗传变化,称为新发副本数变异 (CNVs),与自闭症谱系障碍 (ASDs) 有着显著的联系. 这些自发突变代表了发展自闭症的显著风险因素.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 神经科学是一个神经科学.
背景情况:
- 自闭症谱系障碍 (ASD) 是一种复杂的神经发育状况.
- 在ASD病因学中新基因突变的作用正在调查中.
研究的目的:
- 调查 de novo副本数变异 (CNVs) 与自闭症谱系障碍 (ASDs) 之间的关联.
- 为了确定自发的生殖基因突变是否是ASD的风险因素.
主要方法:
- 用比较基因组杂交 (CGH) 来检测患者和对照组中的CNV.
- 候选区域使用高分辨率的CGH,亲子检测,细胞遗传学,FISH和微卫星基因定型来验证.
主要成果:
- 从新来看,CNV与自闭症有显著的关联 (P = 0.0005).
- 在10%的零星自闭症病例,3%的家族病例和1%的对照中发现了CNV.
- 大多数新发现的CNV都是亚微观的,影响异质基因组区域,包括单个基因.
结论:
- 新生生殖基因突变是ASD的一个重要风险因素.
- 这些发现强调了自发突变在自闭症遗传环境中的重要性.
相关概念视频
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%...
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%...
Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
Mutations
Overview
Meiosis I
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
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,...


