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Genetic Disorders: Focus 1 part 2
Terms in this set (26)
Single Gene Disorders
Abnormal allele is dominant (A)
Normal allele is recessive (a)
Males and females are equally capable of passing on
Disorders usually occur, adult onset
What does AA mean? Disorder or not?
person has disorder
What does aa mean? Disorder or not?
What does Aa mean? Disorder or not?
What type of Autosomal Disease is Huntington's Disease?
Autosomal Dominant Disease
Symptoms of Huntington's Disease
*jerky random movement
*spasm of limbs neck and body
*changes in mood personality and memory
*area of brain gradually waste away as the disease progresses it includes part of the basal ganglia of the brain
Symptoms of Neuro-fibromatosis
*symptoms usually appear in early childhood
*prescence cafe ale "coffee with milk" spots
*present and birth or first 5 years of life
*lumps and bumps develop under skin and something internally
What type of disease is Marfan's Syndrome?
Autosomal Dominant Disease
Symptoms of Marfan's Syndrome
Too much of the protein fibrillin causing the long bones in arms and legs to grow longer than normal, deformities of chest, long fingers, Heart defects, dilation of aorta, aneurysm of abdominal aorta, Scoliosis is common in these patients
Autosomal Recessive Disease
Abnormal allele is recessive (a)
Normal allele is dominant (A)
Trait will not be expressed unless both alleles are abnormal (exp: aa)
Males and females equally affected
early age of onset
rarely see new gene mutation
What does AA in autosomal recessive disease?
What does Aa mean for autosomal recessive disease
Carrier, has trait
what does aa mean for autosomal recessive disease?
Types of Autosomal Recessive Diseases?
*Sickle-cell anemia: occurs when RBCs start to sickle when oxygen content in blood gets low
* Cystic Fibrosis: Thick secretions that affect the lungs and pancreas.
*Phenylketonuria (PKU): an amino acid we need for proper growth and develoment but if too much of it can cause brain damage. These patients are missing a enzyme that breaks down the Phenyoaline in their urine. They need to eat a Low protein diet so that they don't have the PKU they need broken down
Sex-link almost always associated with the __ chromosome?
Sex link disorder inheritance is predominantly recessive in _______, and dominant in _______
Recessive in Females
(because female has two Xs)
Dominant in Males
(because they only have one X)
Female with disorder
Male with disorder
If dad has the disorder he cannot pass it to his ______?
because he has to pass a y to his son
Types of X-linked disorder
*Duchenne Muscular Dystrophy
(sway back, tippy toes, large calf muscle, belly sticks out)
(bleeding occurs frequently in these individuals)
*3 chromosome number 21
*have epicampal folds
*flat nasal bridge
*tend to keep mouth open and tongue protrusion
*small ears and overfolded helix of ear
*Transverse palmar crease
*Congenital heart defects
*Mentally can be functional or severely retarded
*wide carry angle of arms (will stick out from body)
*low hair lines
*less prominent jaw bones
*Droop to one or both eyes
*problems in mathematical reasoning
*finger nails turn upward
Klinefelter Syndrome XXY
*mildly impaired IQ
*No chest hair
*female type pubic hair
*high pitched voice
THIS SET IS OFTEN IN FOLDERS WITH...
Cellular Biology: Focus 1 part 1
Focus 2 part 1: Altered Cellular & Tissue Biology
Focus 2 part 2: Fluids & Electrolytes/Acid & Bases
Focus 8: Hematologic System
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