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相关概念视频

Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
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%...
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,...
Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

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相关实验视频

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

在SCN5A基因的新突变与婴儿突然死亡的早期发病有关.

H Wedekind1, J P Smits, E Schulze-Bahr

  • 1Department of Cardiology, University of Münster, Germany. hwede@uni-muenster.de

Circulation
|September 6, 2001
PubMed
概括

在一个突然死亡的婴儿中发现的SCN5A基因的新突变,为婴儿突然死亡综合征提供了新的见解. 心脏离子通道的这种遗传变化可以导致致命的心律障碍,即使没有家族病史.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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科学领域:

  • 心血管遗传学 心血管遗传学
  • 分子心脏病学分子心脏病学
  • 儿童心脏病学 儿童心脏病学

背景情况:

  • 先天性长QT综合征 (LQTS) 是一种遗传性心脏离子通道疾病,与心脏突然死亡有关.
  • LQTS和QT间隔延长越来越多地与突然婴儿死亡综合征 (SIDS) 相关.
  • 早期发病的LQTS可能是婴儿突然心脏死亡的一个未被认可的原因.

研究的目的:

  • 研究婴儿突然死亡的遗传基础.
  • 识别LQTS相关基因中的突变.
  • 描述已识别的突变的功能影响.

主要方法:

  • 在已故婴儿中对所有已知的LQTS基因进行突变选.
  • 电心电图 (ECG) 分析显示QTc延长和心室动脉节律失常.
  • 使用电压记录,对SCN5A基因的基因分析和鉴定突变 (Ala1330Pro) 的功能特征.

主要成果:

  • 在婴儿身上发现了SCN5A基因的新错误突变 (Ala1330Pro).
  • 突变改变了心脏通道功能,影响了失活性质.
  • 这些功能变化可能导致了晚期腹腔复极化和心律失常.

结论:

  • 一个新的SCN5A突变可以导致致命的心律失常和婴儿突然死亡.
  • 鉴定的突变的功能特征与之前报告的LQTS3突变有所不同.
  • 对离子通道基因的新突变进行基因测试对于理解SIDS至关重要,即使在没有LQTS史的家庭中也是如此.