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Mutations and Genetic Disorders PowerPoint Presentation

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Description : Check out this medical titled "Mutations & Genetic Disorders”.

This medical tells how genetic disorders are conditions that result from mutations in one or more genes.

Mutations are changes in the DNA sequence that can occur spontaneously or as a result of exposure to environmental factors such as radiation, chemicals, or viruses. Mutations can be harmful, beneficial, or have no effect on an organism.

Genetic disorders are conditions that result from mutations in one or more genes. Some genetic disorders are inherited, meaning they are passed down from one or both parents to their offspring. Other genetic disorders are caused by new mutations that occur spontaneously in an individuals DNA.

Examples of genetic disorders include cystic fibrosis, sickle cell anemia, Huntingtons disease, and Down syndrome. These disorders can have a wide range of effects on an individuals health and quality of life, and some may require ongoing medical treatment or management.

Advances in genetic testing and gene therapy have opened up new possibilities for diagnosing and treating genetic disorders. However, ethical and social considerations surrounding these technologies continue to be a subject of debate.

Tags : Mutations, Genetic Disorders, genes, DNA sequence, cystic fibrosis, sickle cell anemia, Huntingtons disease, Down syndrome, Medical Genetics, Medical Genetics

Published on : Jun 01, 2023 | Views : 669 | Downloads : 1

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Slide 1-

Mutations & Genetic Disorders IN 141 Headings Vocabulary Important Information
Slide 2-

Mutations Mutation: Any mistake or change in the DNA sequence Point mutation: Change in one nitrogen base in DNA Ex: albinism
Slide 3-

Changes in chromosome structure 1) INVERSION: the order of genes on a chromosome is inverted Chromosomal Mutation: 2) TRANSLOCATION: the movement of a chromosome fragment to a nonhomologus chromosome
Slide 4-

3. DELETION Loss of a few bases Loss of large regions of a chromosome 4. DUPLICATION Duplication of a few bases Duplication of large regions of a chromosome
Slide 5-

Crossing Over Occurs when chromosomes exchange genes. 2 chromosomes overlap. Some genes cross over and switch places
Slide 6-

NONDISJUNCTION Nondisjunction: chromosome pair fails to separate properly during meiosis Monosomy: gamete has 1 less chromosome than it should 45 chromosomes is the result Ex: Turner syndrome Missing a sex chromosome
Slide 7-

Trisomy: Gamete has 1 more chromosome than it should Result is 47 chromosomes Ex: Down’s Syndrome Extra #21 chromosome
Slide 8-

Methods of Detection Ultrasound: Sound waves are used to generate an image of the unborn child. Used to detect abnormalities of limbs, organs, etc. Chorion villi sampling: Take sample of the chorion (membrane surrounding fetus) Chemical tests and Karyotyping performed
Slide 9-

Amniocentesis: Fluid surrounding the fetus is drawn out by needle Fetal cells are collected and grown in a lab. Chromosomes can be then Karyotyped
Slide 10-

Autosomal Disorders Down’s Syndrome (Trisomy 21) Patau’s Syndrome (Trisomy 13) Edward’s Syndrome (Trisomy 18)
Slide 11-

Down’s Syndrome (DS) Excess # 21 chromosome Prenatal testing can be done Result of chromosomal mutation 1 in 900 people born with this Likelihood of having a child with DS increases with advancing maternal age Symptoms: mental retardation, upward slant to eyes, small mouth, abnormal ear shape, decreased muscle tone No cure
Slide 12-

Patau’s Syndrome &Edward’s Syndrome Cardiac abnormalities Very severe conditions Most affected infants die during first few weeks of life
Slide 13-

Deletion Disorders Angelman Syndrome Prader-Willi Syndrome
Slide 14-

Angelman Syndrome Inappropriate laughter with convulsions Poor coordination Mental retardation
Slide 15-

Prader-Willi Syndrome Extremely floppy Obesity (constantly hungry) Mild mental retardation
Slide 16-

Sex Chromosome Disorders Klinefelter’s Syndrome Turner’s Syndrome Fragile X Syndrome
Slide 17-

Klinefelter’s Syndrome 47, XXY 1 in 1000 male live births Mild learning difficulties Taller than average with long lower limbs Show mild enlargement of breasts Infertile (absence of sperm) Treat with testosterone
Slide 18-

Turner’s Syndrome 45, X Low incidence Look normal Ovarian failure Normal intelligence Short stature Estrogen therapy
Slide 19-

Fragile X Syndrome Most common inherited cause of mental retardation 1 in 2000 males High forehead, prominent jaw, autism Gap in X chromosome
Slide 20-

Single Gene Disorders Cystic Fibrosis Hemophilia Sickle Cell Anemia Phenylketonuria
Slide 21-

Cystic Fibrosis (CF) Recessive disorder Mutation stops production of protein in lung cells, pancreas Thick mucus, bacterial infections in lung “sweat test” Most common in Caucasians (1 in 3300) Chest percussions, diet supplements Shortened life expectancy
Slide 22-

Hemophilia Sex-linked Failure of blood to clot Rare in females Injections with clotting factors to stop bleeding episodes $350,000 a year in treatment
Slide 23-

Sickle Cell Anemia Mutation in blood protein “sickle” shape to RBC Screening tests Most common in African-Americans (1 in 375) Pain associated with blocked vessels, causes anemia (fatigue) Common where mosquito-borne malaria is present
Slide 24-

PKU Mutation disrupts function of enzyme Leads to high phenylalanine levels in brain (poisons) Mental retardation, epilepsy Screening newborns (heel prick) 1 in 10,000 Caucasian births Extremely rare in African-Americans Look normal Need low-protein diet, smelly formulas
Slide 25-

Self Quiz: Quick Check for Understanding 1. Which of the following is an X-linked disorder? A. Angelman B. hemophilia c. Down syndrome 2. How is PKU tested for? A. amniocentesis b. heel prick c. X-ray 3. How are CF patients treated? A. testosterone injections b. chest percussions 4. Turner’s Syndrome is A. 45, X b. 46, XX c. 47, XXY 5. Patients with Klinefelter’s Syndrome are A. all male b. all female c. male or female