Mutations & Genetic Disorders - Arabia Mountain High School

Mutations & Genetic Disorders - Arabia Mountain High School

Mutations & Genetic Disorders Headings Vocabulary Important Information Mutations Mutation: Any mistake or change in the DNA sequence Point mutation: Change in one nitrogen base in DNA Ex: albinism

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

to a nonhomologus chromosome 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

Crossing Over Occurs when chromosomes exchange genes. 2 chromosomes overlap. Some genes cross over and

switch places 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 Trisomy: Gamete has 1 more chromosome than it should Result is 47 chromosomes Ex: Downs Syndrome Extra

#21 chromosome Methods of Detection Chorion villi sampling: Take sample of the chorion (membrane surrounding fetus) Chemical tests and Karyotyping performed Ultrasound: Sound waves are used to generate an image of the unborn child.

Used to detect abnormalities of limbs, organs, etc. Amniocentesis: Fluid surrounding the fetus is drawn out by needle Fetal cells are collected and grown in a lab. Chromosomes can be then Karyotyped Autosomal Disorders Downs Syndrome (Trisomy 21)

Pataus Syndrome (Trisomy 13) Edwards Syndrome (Trisomy 18) Downs 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 Pataus Syndrome & Edwards Syndrome Cardiac abnormalities

Very severe conditions Most affected infants die during first few weeks of life Deletion Disorders Angelman Syndrome Prader-Willi Syndrome

Angelman Syndrome Inappropriate laughter with convulsions Poor coordination Mental retardation Prader-Willi Syndrome Extremely floppy

Obesity (constantly hungry) Mild mental retardation Sex Chromosome Disorders Klinefelters Turners Fragile Syndrome Syndrome

X Syndrome Klinefelters 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 Turners Syndrome 45, X Low incidence Look normal Ovarian failure Normal intelligence Short stature Estrogen therapy

Fragile X Syndrome Most common inherited cause of mental retardation 1 in 2000 males High forehead, prominent jaw, autism Gap in X chromosome Single Gene Disorders Cystic

Fibrosis Hemophilia Sickle Cell Anemia Phenylketonuria 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 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 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 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 Self Quiz: Quick Check for Understanding 1. Which of the following is an X-linked disorder?

b. heel prick c. X-ray A. testosterone injections b. chest percussions 4. Turners Syndrome is A. amniocentesis

3. How are CF patients treated? c. Down syndrome 2. How is PKU tested for? A. Angelman B. hemophilia

A. 45, X b. 46, XX c. 47, XXY 5. Patients with Klinefelters Syndrome are A. all male b. all female c. male or female

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