家族性克鲁茨菲尔特-雅各布病 (codon 200突变) 伴有超核性麻
J M Bertoni1, P Brown, L G Goldfarb
1Department of Neurology, Creighton University, Omaha, Neb 68131-2197.
JAMA
|November 4, 1992
概括
在一个大家庭中,PRNP基因 (codon 200Lys) 的基因突变与非典型的克鲁茨菲尔特-雅各布病 (CJD) 有关. 这一发现扩大了对家族性CJD表型的理解.
科学领域:
- 神经遗传学 神经遗传学
- 子疾病是子疾病.
- 分子生物学分子生物学
背景情况:
- 克鲁茨菲尔特-雅各布病 (CJD) 是一种罕见的,致命的神经退行性疾病.
- 家族性CJD (fCJD) 占少数病例,与遗传突变有关.
- 非典型的fCJD呈现带来了诊断上的挑战.
相关概念视频
01:39Mutations
Overview
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:39Mutations
Overview
01:35Mutations
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
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