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                       Chromosomal Aberrations

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                       Chromosomal Aberrations

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- Turner Syndrome
MONOSOMY- missing 2nd sex chrom. = (X)(-) - Considered Female
Short, broad neck. INFERTILE and fails to dev secondary sex characteristics

- Trisomy X
May have learning disabilities or dev delays.

- Fragile X
DEFECT on ONE LOCUS on X chrom.
= Retardation, Autistic like

- Klinefelter's Syndrome
(X)(X)(Y) - Considered Male = INFERTILE

- XYY Syndrome
(X)(Y)(Y) - Male = Fertile
Tall, Learning Disabilities

- Te

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                    X - Linked Recessive Disorder

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                    X - Linked Recessive Disorder

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* Males are ALWAYS affected

- Hemophilia
Defect in CLOTTING FACTOR VIII or IX
= Hemartharia (bleeding of joints)

- Duchenne's Muscular Dystrophy
Degeneration of skeletal muscles
= Pseudohypertrophy = fake
10 y/o - muscle weakness, 12 y/o - need w/c, 25 y/o - DEATH

- Hunter's Syndrome
Increased MUCOPOLYSACCHARIDE secretion by kidney.
= Retardation. Dysplasia. Blindness. Enlarged spleen and liver.
Tx: ELAPRASE - Enzyme replacement therapy

- Agammaglobulinemia
Mutation that PREVENTS MATURATION and DEV of B CELLS
= IMMUNE DEFICIENCY = Freq. INFECTIONS

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                     Autosomal Recessive Disorders

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                     Autosomal Recessive Disorders

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* 1 gene = carrier
2 genes = affected

- Sickle Cell Disease
CHRONIC HEMOLYTIC ANEMIA.
sickle cell shaped RBC , too FRAGILE and DIES TOO EARLY
= circulatory defect (INFARCTION), low RBC count (ANEMIA)
ENLARGED spleen, heart. Renal failure. LE severe pain
ACUTE CHEST SYNDROME (mimics pneumonia)
prominent in the BLACK POPULATION. 8-13% Carriers. 0.3% affected

- Beta Thalassemia Major / Cooley's Anemia
HEMOLYTIC ANEMIA
= Jaundice, Enlarged SPLEEN and fragile BONES, Fatigue, HEART failure
Tx: Remove SPLEEN to decrease IRON LEVELS
promoinent in ASIAN decent

- Cystic FIbrosis
Abnormal EXOCRINE GLANDS, makes EXCESSIVE and THICK SECRETION
= dec. func. of LUNGS and DIGESTIVE system

- Phenylketonuria / PKU
Inability to metabolize PHENYLALANINE
= accumulates in brain = MENTAL RETARDATION and BRAIN DAMG
ALL NEW BORNS ARE TESTED FOR THIS DISORDER

- Wilson's Disease
Inability to metabolize COPPER due to def. in copper carrying PROTEIN
= DEPOSITS in BRAIN, LIVER, KIDNEY. Impaired muscle tone. ataxia.                   GREEN RING IN CORNEA.

- Albanism
No pigment in skin, hair or eyes

- Gaucher Disease Type 1
Abnormal LIPID metabolism. NOT FATAL
= accumulation of GLUCCOCEREBROSIDE in tissues
= enlarged SPLEEN, LIVER. abnormal skin color. cysts in bone.

- Tay Sachs Disease
Abnormal LIPID metabolism. FATAL
= accumulation of SPHINGOLIPIDS in brain
= dev. delays. Retardation. Blindness. Paralysis.

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                     Notes on Gene Disorders

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                     Notes on Gene Disorders

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---------------------- Autosomal Dominant Disorder -------------------------
*only need 1 Gene
*Lack of Penetrance - Individual HAS GENE but it is NOT EXPRESSED
*Pleiotrophy - ONE genetic mutation = MULTIPLE symptoms

- Familial Hypercholesterolemia (C.19 Defect)
Cholesterol level = 1 inherited gene: 250 (children) to 300 (adults)
= 2 inherited gene: 600
Shows CHOLESTEROL DEPOSITS in skin and eyelids

- Marfan's Syndrome (C.15 Defective)
Defective Fibrillin = LOOSE CONNECTIVE TISSUE
Individuals have LONG and SLENDER arms
Lax Joints, affects Circulatory, Musculoskeletal and Eyes

- Adult Polycystic Kidney Disease (C.16 Defect)
NEPHRONS are replaced by CYSTS = RENAL FAILURE

- Huntington's Disease
Individuals experience CHOREIFORM MOVEMENT and MENTAL DETORIATION
jerky movements

- Neurofibromatosis
NEUROMAS and CAFE AU LAIT SPOTS that grow on NERVES
Spots compress spinal cords, nerve and nerve roots. Fx, Pain, Disfigurement

- Osteogenesis Imperfecta
Disorder of Collagen Synthesis. BRITTLE BONES
4 Types:
- I mild. fx. bruise. triangle face. blue sclarae.
- II most severe. fx in utero. decreased life expectancy.
- III mod severe. scoliosis. progressive. osteoporosis. w/c @ teens.
- IV variable. bowed bones. osteoporosis. normal life span.
INTERVENTION NEEDED:
fx prevention. braces. bisphosphonates (promoting bone regrowth)
AROM is preferred. no weights @ joint line

- Von Willebrand's Disease
BLEEDING from mucosal membranes. HEMOPHILIA
Slow to Clot. MUST AVOID NSAID, ASPIRIN

- Achondroplastic Dwarfism
Short limbs. Short fingers, trident hand. Enlarged head, Big forehead.
Lordosis, back pain, obesity, apnea, hearing loss.

- Familial Periodic Paralysis
PERIODIC attacks of temporary paralysis.
due to dysfunctional SODIUM and CALCIUM channels in nerve cells.

- Charcot Marie Tooth Disease
Peroneal muscular ATROPHY.
Paralysis of evertors, High arch.

- Myotonic Muscular Dystrophy
SLOW RELAXATION after contraction.
Weakness, deformities, cardiorespiratory complications

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on Lecture 1

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Start studying AHS 152 Genetics. Learn vocabulary, terms, and more with flashcards, games, and other study tools.

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---------------- The Biology of Inheritance ----------------

Inheritance - Traits transmitted from PARENTS TO OFFSPRING
Chromosomes - BASIC UNIT of genetics
- Contained in NUCLEI
- Double Strand
- 46 in each Cell, 23 PAIRS
*22 Pairs - Autosomes (other cells)
*1 pair - Gamate (Sex Hormone; SPERM or OVA)
XY - Male, XX - Female
*First Chromosome is from Mother, ALWAYS X
*Second Chromosome is from Father, EITHER X or Y
= DETERMINES SEX OF BABY

Gene - structure that CARRY TRAITS from parent to child. STRUCTURES and REGULATES DEVELOPMENT of bodies Cell and Tissue
- LOCUS - PLACE where gene is IN THE chromosome
-pattern of nucleic acid

GAMATE - SEX CELL            AUTOSOMAL - OTHER CELLS
SPERM OR OVA                 HAS 26 PAIRS OF CHROMOSOMES
HAS 23 CHROMOSOME            HAS 46 CHROMOSOMES
HAPLOID #                   DIPLOID #

Homologues - Alleles
- corresponding GENE on chromosome pair
- one from mother, the other from father
*HOMOzygous - trait is IDENTICAL alleles
*HETEROzygous - trait if DISSIMILAR alleles

Genotype - GENETIC MAKEUP
Phenotype - PHYSICAL TRAITS

Dominant Gene - STRONG GENE          Recessive Gene - WEAK GENE
- need ONLY 1 gene to                - needs 2 genes to
be inherited                           be inherited
- ex. Achondroplastic                - only 1 = CARRIER
Dwarfism, Osteogenesis            - ex. Sickle Cell
Imperfecta                           Anemia, Cystic Fibrosis

Co Dominance - both alleles are expressed
Multifactorial Inheritance - Disease has MORE THAN ONE CAUSE

X-Linked Trait - Disease inherited on the X chromosome.
- Girls - given by BOTH parents
- Boys - given only by MOTHER
- ex. Duchenne's Muscular Dystrophy

*MALES WILL ALWAYS BE AFFECTED BECAUSE THEY ONLY HAVE ONE
X THEREFORE IT IS IMPOSSIBLE FOR ANOTHER X TO OVERCOME
THE AFFECTED X

Punnet Square - diagramming inherited traits
Pedigree - Family Tree, shows inheritance of Disease
Karyotype - laid out pairs of chromosomes

Mutation - CHANGE in DNA sequence, SPONTANEOUSLY or BY MUTAGEN
Mendelian Inheritance - Disease that is TRACED TO A SINGLE GENE

Meiotic Nondisjunction - chromosome FAILS TO SPLIT properly

*when MN occurs, the chromosome has 2 outcome (A, B), A has an               EXTRA chromosome and B will LACK a chromosome.

- when A joins its pair, it will result in:
TRISOMY - having a THIRD chromosome
- ex. Trisomy in Chromosome 21 results in DOWN SYNDROME
- when B joins its pair, it will result in:
DELETION - MISSING a genetic material
- results in abortions, still birth or MULTIPLE DEFICIT

Chromosomal Crossing Over and Recombination
- occurs during egg and sperm cell formation
- swapping of genetic material between alleles = GENETIC VARIABILITY

*Translocation - relocation of gene from one chromosome to
the other chromosome.

- balanced - ALL PRESENT only MISPLACED, most likely NORMAL
- unbalanced - MISSING or EXCESSIVE, will have DEFICITS
- Centric - when 2 chrom. get STUCK TOGETHER
- Reciprocal - when 2 chrom. SWAPS genetic material.

Analysis of Cancer Cells
- cancer may have different genetic makeup
- Leukemia has RECIPROCAL TRANSLOCATION between chrom. 9 and 22
"Philadelphia Chromosome"

Human Genome Project
- 1990. To identify all genes in body. Millions of genes were           identified.

--- PT'S ROLE IN GENETIC ---
-Family and Medical History
-Pt. assessment, prognosis and intervention
-counseling, communication, referrals, educating

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Feb 13 - Exam 1 (th)
Feb 15-21 - Mid Winter Break
March 10 - Exam 2 (t)
March 26 - Exam 3 (th)