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Medical Mystery Patient X
Symptoms 0 Patient’s Symptoms: 0 Possible Diseases/Disorders: 0 Final Diagnosis:
Mendelian Genetics 0 Type of Inheritance - Chromosomal (autosome/sex-linked) - Dominant/Recessive - Paternal/Maternal inheritance
Molecular Genetics 0 Gene of Interest(?) 0 Type of mutation(deletion/insertion/substitution?) 0 Protein in Question(missing/nonfunctional?) -what does it do that leads to disease/disorder?
Treatments 0 Medication/Therapy/No hope…/Only God knows...
References 0 List all sources/references that you use to determine the diagnosis of your medical mystery case…. Keep in mind, at best… a misdiagnosis would earn a C (and could lead to law suits ).
Genes are found on the X AND Y chromosomes. Genes that are carried on the sex chromosomes are called sex linked genes.
Chromosome Disorders. Classification of genetic disorders Single-gene disorders (2%) Chromosome disorders (<1%) Multifactorial disorders (60%)
Genetic disorders can be due to any of the following factors: A. Monogenetic Disorders: Caused by a mutation in a single gene 1. Autosomal recessive alleles:
FOR FRESHERS Mendelian Inheritance. Mendelian inheritance There are two alleles of a gene on different sister chromosomes. Dominant alleles trump recessive.
Genetic Disorder Research Project Today please research and write in your journal the following questions for your genetic disorder. Remember to keep track.
1/14/15 Objective: How do sex-linked genes produce different inheritance patterns in males and females? Do Now: Take out assigned homework.
Pedigrees. What is a Pedigree? A family history that shows how a trait is inherited over several generations Useful if the trait is a genetic disorder.
9.6 Genetic Screening and Gene Therapy KEY CONCEPT Genetics provides a basis for new medical treatments.
13.1 Ecologists Study Relationships Unit 3: Genetics Chapter 7 Extending Mendelian Genetics Section 7-1 Chromosomes and Phenotype.
7.1 Chromosomes and Phenotype KEY CONCEPT The chromosomes on which genes are located can affect the expression of traits.
Single-gene Disorders. Classification of genetic disorders Single-gene disorders (2%) Chromosome disorders (<1%) Multifactorial disorders (60%)
What is Huntington’s disease? It is a progressive degeneration of the nerve cells in the brain. This disease cause uncontrolled movements, emotional problems,
Charcot – Marie Tooth Disease TANYA ISLAND, CRNA, MS GENETICS PRESENTATION NOVEMBER 21, 2014.
What exactly is a mutated gene? Nope, that’s not it.
Developmental & Genetic Diseases By Dr. Ghada Ahmed Lecturer of pathology Benha Faculty of Medicine.
TYPE NAME OF DISORDER Your Name. Name of Disorder List other names of disorder or abbreviations used.
GENETICS By: Noor, Doris, Fhamida. JEOPARDY BOARD Crosses and Inheritance Sex-linked/ PedigreeDiseases $100 $200 $300 $400 $500 FINAL JEOPARDY.
GENETIC DISORDER PROJECT EXAMPLE By: Mrs. Hoffman.
Hemophilia in Canis familiaris (dogs). General information MIM number: MIM number: MIA number: MIA number:
Why Study Genetics?* *or “What am I going to learn in this class?”
Pedigree definition Pedigree: a family history that shows how a trait is inherited over several generations Pedigrees are usually used when parents.
GENETIC DISORDER PROJECT. GENETIC COUNSELOR Guides expecting parents through the chances of their child obtaining a genetic disorder Provides information.
(7 th ) Chapter 6-2 Cornell Notes Human Genetic Disorders.
Your Name and Period. Introduce the disease This should be in a paragraph form. NOT in bullet form.
Human Genetics Chapter 12. Difficulties in Studying Human Heredity Controlled experiments are not possible Small numbers of offspring per generation Long.
Cystic Fibrosis is a genetic disorder that causes problems for the Respiratory and Digestive systems.
Do Now : Think-Pair-Share For a height characteristic when tall is dominant What would be the phenotypic ratio for offspring of heterozygous and homozygous.
Structural genes: genes that contain the information to make a protein. Regulatory genes: guide the expression of structural genes, without coding.
Altered Cellular Tissue. Heredity DNA –Chromatin –Chromosome –Karyotype Protein Synthesis –Transcription –Translation.
By: Kaila Cooper What is it? Huntington’s Disease s a brain disorder that affects a person’s ability to think, talk, and move.
Mutations. What is a mutation? Any change in the DNA base sequence.
Human Genetics Biology. Human Chromosomes Karyotype –Picture of chromosomes arranged in pairs Autosomes – 44 chromosomes that everyone has no matter what.
Medical Genetics Textbooks: Emerys Elements of Medical genetics Strachan & Read Human Molecular Genetics (for the genome project material)
9.6 Genetic Screening and Gene Therapy KEY CONCEPT Genetics provides a basis for new medical _____________.
Retinoblastoma Retinoblastoma is a rare form of eye cancer that develops in the retina usually before the age 5.
Autosome: the first 22 homologous pairs of chromosomes Sex Chromosome: X and Y chromosome (the 23 rd set of chromosomes) Female: XX Male: XY.
Mendelian Genetics. Vocabulary Trait- characteristic of an organism (ex. coat color) Gene- segment of DNA that codes for a protein Allele- alternate form.
Molecular Genetics in the Von Willebrand disease Ghasem Rastegarlari.
Introduction to Medical Genetics Fadel A. Sharif.
Vocabulary Review Ch 12 Inheritance Patterns and Human Genetics.
Genetic Testing & Gene Therapy 5.3. Genetic Testing & Gene Therapy (5.3) Genetic tests look for signs of a disease or disorder in DNA taken from an.
Allele. Alternate form of a gene gene variant autosome.
Pedigrees CP Biology Genetics Unit. What is a Pedigree? A diagrammatic tool used by geneticists to show the family history of how a trait is inherited.
Unit 5- Genetics ► Test Review. Pencil Required ► The test will have 40 questions. ► The first 28 are just like all of the tests we’ve had. ► The last.
Zookeeper genetic disorder By nick proffitt. Multiple sclerosis Multiple sclerosis also known as MS is a long lasting disease that can affect the brain.
Mutations. What are mutations? Mutations are changes in the genetic material. Types of Mutations: 1. gene mutations – changes in single gene 2. chromosomal.
Hemophilia A By Saad Mukaty. Definition of Hemophilia Hemophilia (A) is a rare disorder in which blood doesn’t clot normally because it lacks important.
GENETIC DISEASES I DR. ERNEST K. ADJEI FRCPath. DEPARTMENT OF PATHOLOGY SMS-KATH.
List at least 3 genetic conditions you know of. Why do you think they are genetic conditions?
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