PKU (Phenylketonuria) By Logan Tavares and Stephanie Ding Yay everyone please pay attention.

Slides:



Advertisements
Similar presentations
Medical Mystery Patient X. Symptoms 0 Patient’s Symptoms: 0 Possible Diseases/Disorders: 0 Final Diagnosis:
Advertisements

Phenylketonuria (PKU)
Genetic Diseases.
Mama Mia Sofia [Thai] Damonster [a.k.a. Damani J.]
Chapter 12 Patterns of Heredity and Human Genetics
Phenylketonuria (PKU)
Genes and Medical Genetics
Phenylketonuria By John Fenlon March of Dimes 2009.
PKU Phenylketonuria Polly Bainbridge Samantha Miller Madison Mitchell.
Pedigrees.
Human Heredity and Genetic Disorders
Human Genetics.
 Genes are found on the X AND Y chromosomes.  Genes that are carried on the sex chromosomes are called sex linked genes.
Read Chapter 3 from the book “Genome” The story of Archibald Garrod.
Some Genetic Disorders Genetic Disorders All of the disorders in this presentation are autosomal. This means they NOT located on the sex chromosomes,
Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal recessive condition that causes progressive degeneration.
Chapter 14 Human Chromosomes Karyotype: a picture of the chromosomes from a single cell. Used to determine the sex, or possible genetic disorders of.
Genetic Disorders.
You already know… - A chromosome is a structure that carries genetic information Each cell normally has 23 pairs of chromosomes: 1 pair of sex chromosomes.
Chapter 3: Genetic Bases of Child Development 3.1 Mechanisms of Heredity 3.2 Genetic Disorders 3.3 Heredity Is Not Destiny.
7-5 Phenylketonuria Report
Genetic disorders C.1.m. – Describe the mode of inheritance of commonly inherited disorders.
ABO Blood Groups and Genetic Disorders
1 2 Karyotypes 3 Mutations 4 Chromosomes & Sex.
PKU- Cell Storage Disorder!! By: Brianna Hopkins.
Case Study: Phenylketonuria (PKU)
Single-gene Autosomal Disorders. Basic terminology Genotype: A A (Homozygous)A A Genotype: A B (Heterozygous)A B Single gene disorder - determined by.
 Genetic Family Tree  Maps only one trait at a time.
PKU: Phenylketonurin By Amit Khosla, Dan Poor, Jason Powell, Lisa Smith, Amber Spiering, Liz Viola.
Phenylketoriuria (PKU)
Chromosomal Disorders. Non-disjunction During meiosis, chromosomes are supposed to be divided evenly and into gametes. During meiosis, chromosomes are.
Human Heredity. A karyotype is a picture of chromosomes Of the 46 human chromosomes, they are arranged in 23 pairs 22 of the pairs are called body chromosomes.
Genetic Disorders & Chromosomal Mutations Chapter 12.
Normal allele PKU allele # 1 DNA mRNA protein Intron Exon The amino acids that signal the enzyme to cut the DNA could be lost in the deletion resulting.
Complex Patterns of Inheritance Exceptions to Mendel’s rules: not simple dominant/recessive inheritance.
Human Genetic Disorders
Diseases and karyotypes
DAY 2 Unit 3 Inheritance and Molecular Genetics 1.
PHENYLKETONURIA (PKU). PHENYLALANINE HYDROXYLASE PHENYLALANINE Dietry sources, particularly plant proteins BODY PROTEINS BREAKDOWN (b) (a) The normal.
Human Genetic Disorders Every cell in the human body has 46 chromosomes except for gametes, egg sperm cells, which contain 23 or the haploid number. Human.
Genetic Diseases Cystic Fibrosis Albinism Phenylketonuria Macy VanArnam.
Huntington’s is caused by a faulty DOMINANT GENE You only need one copy of the gene from the affected parent. Each child has a 50% chance of inheriting.
Multiple Alleles, Polygenic Traits, and Pedigrees Wednesday, October 25, 2011.
PHENYLKETONURIA Stephanie Holton.
Genetic Disorders Cystic Fibrosis
A Molecular View of Phenylketonuria By: Sindhu Kilakkathi.
Some Genetic Disorders
The Human Genome Chapter 14.
INBORN ERRORS OF AMINO ACIDS METABOLISM
BioTech and Health Career opportunities Phenylketonuria (PKU)
EQ: Why do we have genetic mutations?
Human Genetic Disorders
Human Genetics By Diana Bivens.
Mutations Affecting Humans
Inborn Error of Metabolism
Genetic Disorders.
The Human Genome Chapter 14.
ALBINISM By: Melissa H.
Mrs. Jacobs Unit 6: Genetic Abnormalities IN 149
Genetics of Parenthood Quiz
GENETIC DISORDERS.
Do Now Question If there was a chance you inherited a genetic disease (but did not yet have it) and a genetic test for the disease was available, would.
Complex Patterns of Inheritance
Pedigrees.
Simple Dominant Traits
Patterns of Heredity & Human Genetics
Methods of inheritance
Carrier = an organism that has inherited a genetic trait or mutation, but displays no symptoms X-linked traits = traits that are passed on from parents.
Genetic Disorders & Chromosomal Mutations
Presentation transcript:

PKU (Phenylketonuria) By Logan Tavares and Stephanie Ding Yay everyone please pay attention

Cause Autosomal recessive trait mutations in both alleles chromosome 12

Symptoms Mental retardation Seizures Hyperactivity Tremors Odor Melanin Delayed mental/social skills

Treatment :D Strict diet – Low in PAH Start early Otherwise won’t work 

Who? Sex = no effect N-European/Native American ancestry

Testing Not positive Mutation is not helpful Big effects – If not detected early

Testing (cont.) No pain Cost/availabilty of treatment Good Liable No medications usually