Chapter 22 Chromosome 22 DNA Sequence Chromosome 22

  • Slides: 4
Download presentation
Chapter 22: Chromosome 22 DNA Sequence Chromosome 22 Name of Gene LARGE 647, 954

Chapter 22: Chromosome 22 DNA Sequence Chromosome 22 Name of Gene LARGE 647, 954 bp Name of Protein Likeglycosyltrans ferase transcription m. RNA Amino acid sequence 756 aa translation What does this protein make up or do? The LARGE gene provides instructions for making a protein that is involved in a process called glycosylation. Condition/Disease Walker-warburg syndrome

Description of Walker. Warburg n Symptoms and characteristics n Walker-Warburg syndrome causes muscle weakness

Description of Walker. Warburg n Symptoms and characteristics n Walker-Warburg syndrome causes muscle weakness and abnormalities of the brain and eyes. n Because of the severity of the problems caused by this condition, affected individuals usually do not survive past early childhood. n Muscle fibers become damaged as they repeatedly contract and relax with use. The damaged fibers weaken and die over time, which affects the development, structure, and function of skeletal muscles in people with Walker. Warburg syndrome n Researchers believe that this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, in which the surface of the brain lacks the normal folds and grooves and instead appears bumpy and irregular.

Description of walker-warburg (cont. ) n Who is affected? Walker-Warburg syndrome is estimated to

Description of walker-warburg (cont. ) n Who is affected? Walker-Warburg syndrome is estimated to affect 1 in 60, 500 newborns worldwide. n How do people get affected? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. n Source: http: //ghr. nlm. nih. gov/condition/walkerwarburg-syndrome

References n Genititics Home reference. Genes and Disease: Walker-Warburg [online]. Available at URL: http:

References n Genititics Home reference. Genes and Disease: Walker-Warburg [online]. Available at URL: http: //ghr. nlm. nih. gov/condition/walker-warburgsyndrome n NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available at URL: http: //www. ncbi. nlm. nih. gov/gene/9215 Genitics Home Referance: What you should know [online]. 2004. [cited July 14]. Available at URL: http: //ghr. nlm. nih. gov/condition/walker-warburgsyndrome. n