Title: Polikliniek metabole ziekten, interne geneeskunde Author: z396105 Last modified by: Jos Lut Created Date: 6/11/2007 10:44:10 AM Document presentation format
... but their daughter was born with alkaptonuria, an inherited metabolic disorder. If alkaptonuria is like most other human hereditary disorders, the probability ...
... Alkaptonuria must be recessive George Sandra Tom Sam Arlene Wilma Ann Michael Carla Daniel Alan Tina Christopher Now we can fill in a lot of the genotypes!
The urine turns brownish-black when it mixes with air. Alkaptonuria is inherited, which means it is passed down from parents to their children. To get ...
Garrod (1909) Inborn errors of Metabolism Inherited human metabolic disorders such as alkaptonuria result from alternative metabolism. ... So the nucleotide, ...
Usually found in the axillae, face or areola. More common in ... Bleeding diathesis. Alkaptonuria. Poisoning. Addison's Disease. Hemochromatosis. Discussion ...
Is not itself consumed in the reaction. Lowers the ... Enzyme 5 defect- alkaptonuria. Enzyme 6 defect- albinism. Many such defects have been identified ...
But the search for the defective enzyme responsible for alkaptonuria was still on. ... other enzyme mutations upstream from FAAH were responsible. Lac Phe ...
Proximal convoluted tubule creatine, lactic, citric, uric, and ascorbic acids; ... creatine. Alkaptonuria urine turns black when allowed to stand genetic ...
Title: Human metabolic networks Author: bsd Last modified by: Tim Fowler Created Date: 7/12/2006 7:15:10 PM Document presentation format: On-screen Show
Pedigree Not just a dog food company Pedigree Some conditions/traits appear often in some families This is a clue that the condition/trait is genetic Looking at a ...
Metabolism is the process to break down food to make energy for the body. The food we eat is chemically breakdown into sugars and acids. The body can use this fuel, or it can store the energy in body tissues, such as liver, muscles, and body fat. The patients develop metabolic disorder when some organs, such as liver or pancreas, become diseased or do not function normally.
Synthesis by amidation Glutamine: This amino acid, which contains an amide linkage with ammonia at the -carboxyl, is formed from glutamate by glutamine synthetase.
The McGill University Health Centre - The Montreal Children's Hospital ... CYSTINURIA - HEREDITY. Mendelian trait MIM # 220100. Two phenotypes (Harris) ...
Title: December 10, 2010 Author: keasterly Last modified by: keasterly Created Date: 12/10/2010 10:52:15 AM Document presentation format: On-screen Show (4:3)
AKU: From classical genetics to gene cloning. Classical genetics ... retrieved genomic clone. HGO mapped by somatic cell hybrid and FISH analysis - HGO maps to AKU! ...
Pathways of Amino Acid Degredation Lehninger 18.3 1/16/09 Overview We cannot store amino acids so they are converted into intermediates in metabolic or biosynthetic ...
George Beadle (left) and Edward Tatum (right) receiving their Nobel Prizes ' ... It was probably George W. Beadle who brought Garrod to the attention of ...
Chapter 11 Complex Inheritance and Human Heredity 11.1 Basic Patterns of Human Inheritance Recessive Genetic Disorders Mendel s work went unnoticed by the ...
Title: Slide 1 Author: bromwell Last modified by: bromwell Created Date: 4/14/2008 1:44:58 AM Document presentation format: On-screen Show (4:3) Other titles
Human Genome Project is launched. The sequencing all 3.2 billion letters of the human ... 2003 Completion of the Human Genome sequencing. ...A brief timeline...
... in the genetic code would be three nucleotides long Minimum code length that could specify the 20 different amino acids found in proteins This triplet code is ...
Cystic fibrosis phenotype ... Cystic Fibrosis Genetic Analysis Consortium ... The mutation that causes cystic fibrosis has survived for about 50,000 years. ...
Title: DIGESTION and ABSORPTION Author: IT Services Last modified by: lenovo1 Created Date: 1/15/2003 6:57:51 PM Document presentation format: On-screen Show (4:3)
One of the oldest 'lab' procedure. Diabetes mellitus vs diabetes ... Afferent and efferent arterioles. Glomerulus. Bowman's capsule. Proximal convoluted tubules ...
What is a gene? Definitions of the gene The gene is to genetics what the atom is to chemistry. The gene is the unit of genetic information that controls a specific ...
Title: PowerPoint Presentation Created Date: 1/1/1601 12:00:00 AM Document presentation format: Presentazione su schermo (4:3) Other titles: Times New Roman Arial ...
PROTEIN METABOLISM: SPECIFIC WAYS OF AMINO ACIDS CATABOLISM AND SYNTHESIS SPECIFIC WAYS OF AMINO ACID CATABOLISM The carbon skeletons of 20 fundamental amino acids ...
The Structure, Replication, and Repair of DNA. Chapter Overview. The Evidence for DNA as the Genetic Material. The ... George Beadle and Edward Tatum (1941) ...
Intracellular Accumulation-2 Pigments Dr Shoaib Raza Pigments They are colored substances Normal constituents of the cell Melanin Abnormal and accumulate only under ...
Gregor Mendel Experiments in Plant Hybridization, 1865 Controlled experiments, mathematical analysis Pisum sativum, the garden pea What makes this a good model ...
Title: METABOLISME ASAM AMINO Author: Andreas Last modified by: Toshiba Created Date: 1/2/2003 12:20:14 AM Document presentation format: On-screen Show
PROTEIN METABOLISM: SPECIFIC WAYS OF AMINO ACIDS CATABOLISM AND SYNTHESIS SPECIFIC WAYS OF AMINO ACID CATABOLISM The carbon skeletons of 20 fundamental amino acids ...
The Central Dogma Of Molecular Biology DNA replication DNA transcription Chromosome synthesis: 2 chromatids NOT NEEDED IN GENE EXPRESSION! RNA Polypeptide
Title: Slide 1 Author: TXN25N Last modified by: Zul Edward Created Date: 6/17/2008 12:12:19 AM Document presentation format: On-screen Show (4:3) Company
Microscopically, one finds vacuolization in neuronal cytoplasm and dendrites, ... This leads to vacuolization of the brain tissue. What is a Protein? Amino acid ...
Metabolomics: The Basics David Wishart Depts. Comp. Sci and Bio. Sci. University of Alberta david.wishart@ualberta.ca July 16, 2005, 8th Banff Symposium
Carl Correns crossed white snapdragons with red snapdragons According to Mendelian genetics, ... Chapter 11 Complex Inheritance and Human Heredity Author:
Lower (yeast) and more advanced (anything but the ... C. Elegans (nematode, eukaryote) multicellular eukaryote. 1.5. 1.5. 3. Filamentous Fungi (eukaryote) ...