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相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

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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,...
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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.
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染色体反转多形态形成了人类大脑形态学的形状.

Hao Wang1, Carolina Makowski1, Yanxiao Zhang2

  • 1Center for Multimodal Imaging and Genetics, University of California San Diego, La Jolla, CA 92093, USA.

Cell reports
|July 28, 2023
PubMed
概括
此摘要是机器生成的。

常见的染色体逆转显著影响人类大脑结构,影响皮质和皮质下形态. 这些遗传变异对于理解大脑发育和神经精神病的情况至关重要.

关键词:
科普:基因组学 基因组学科普:神经科学是什么意思大脑形态学 大脑形态学基因调节 基因调节 基因调节逆转多态的多态化磁共振成像技术的使用分子QTL是指分子QTL.神经发育的神经发育分段复制的重复.结构变体结构变体

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科学领域:

  • 神经遗传学 神经遗传学
  • 人类遗传学 人类遗传学
  • 大脑形态学 大脑形态学

背景情况:

  • 染色体逆转对人类大脑形态学的影响尚不清楚.
  • 染色体逆转是人类基因组中常见的结构变异.
  • 了解它们的影响是解读大脑发育和疾病的关键.

研究的目的:

  • 为了研究常见的染色体反转和人类大脑形态之间的联系.
  • 为了确定与皮层和皮层下结构的变化相关的特定反转.
  • 探索这些反转在塑造大脑表型中的作用.

主要方法:

  • 对33018名欧洲祖先的成年人进行基因定型,以确定35个常见的反转.
  • 全基因组关联研究,评估逆转与大脑形态之间的联系.
  • 对皮层和皮层下大脑结构的分析.

主要成果:

  • 五个反向 (2p22.3,16p11.2,17q21.31,8p23.1,6p21.33) 显示了全基因组与大脑形态的显著关联.
  • 在MAPT基因附近的17q21.31逆转区域是影响皮层模式的主要位置.
  • 大多数倒置与大脑大小的减少有关,但2p22.3增加了皮下体积,8p23.1增加了运动皮层体积.
  • 显著的逆转位于神经精神疾病的基因组热点.

结论:

  • 染色体逆转代表了影响人类大脑形态的显著遗传变异.
  • 这些发现可以将其推广到儿童身上,并强调逆转是大脑表型的关键因素.
  • 倒置在塑造大脑结构方面发挥着重要作用,可能导致神经精神疾病.