REPRESENTATIVE RECESSIVE AND DOMINAT TRAITS Flashcards
(26 cards)
congenital disorder that lack of pigmentation and hair of a person
ALBINISM
Recessive
A genetic disease in which urine turns black
on exposure to light or alkali and joint cartilage becomes
brittle and easily worn away and affected by a form of
osteoarthritis
Alkaptonuria
Recessive
Described in 1902 by Garrod
- First inborn error of metabolism
A rare autosomal recessive disorder
Alkaptonuria
Recessive
partially or completely unable to distinguish
between some colrs
Color blindness
Recessive
permanent dilation of the capillaries and
small blood vessels, especially in the face and thighs, producing
dark red blotches resulting to rash, poor muscular coordination,
involuntary eye movements, high risk for cancer, sinus and lung
infections.
Ataxia telangiectasia- Recessive
visual loss, developmental delay, seisures
Batten Disease
Recessive
Hereditary disease starting in infancy that
affects various glands and results in secretion of thick mucus
that blocks internal passages, including those of the lungs,
causing respiratory infections. The pancreas is also affected,
resulting in a deficiency of digestive enzymes and impaired
nutrition.
Cystic Fibrosis
Recessive
a form od muscular dystrophy
(degeneration of body tissue) that attacks the muscles of the
upper respiratory and pelvic areas, usually affecting boys and
causing death before maturity.
Duchenne Muscular Dystrophy
Recessive
overgrowth of
heart muscle, causing sudden death in young adults
Familial Hypertrophic Cardiomyopathy
Recessive
A genetic disorder causing the absence of an
enzyme necessary for the breakdown of galactose in milk to
glucose
Galactosemia
Recessive
a genetic disorder in which a fatty substance
accumulates in the body, especially the spleen, liver, lungs, and
bone marrow. The disorder is characterized by bruising,
fatigue, anemia, low blood platelets, and enlargement of the
liver and spleen
Gaucher disease
the body lacks the enzyme to metabolize
phenylalanine. If untreated, it results in developmental
deficiency, seizures, and tumors.
Phenylketonuria-
Recessive
a disorder linked to a recessive gene on the
X- chromosome and accurring almost exclusively in men
and boys, in which the blood clots much more slowly than
normally, resulting in extensive bleeding from even minor
injuries.
Hemophilia
Recessive
a genetic disorder in which there is
excess accumulation of iron in the body leading to damage
of many organs,especialyy the liver and pancreas.
Hemochromatosis
a red blood cell that is crescent-shaped as a result of an inherited mutation in the cell’s haemoglobin.
Sickle-cell anemia
Recessive
a genetic disorder in which cartilage fails
to develop into bone during early stages of development,
resulting in dwarfism.
Achondroplasia
Dominant
marked by accumulation of lipids in
the brain and nerves and resulting in loss of sight and
brain functions.
Tay Sach’s Disease
Recessive
with usually short fingers or toes
Bradydactyly
Dominant
progressive uncontrollable movements
and personality changes, beginning in middle age
Huntington Disease
Dominant
inability to digest lactose, causing cramps after ingestion.
Lactose intolerance
Dominant
a hereditary disorder that affects the
body’s connective tissues, with long limbs, sunken chest, lens
dislocation, spindly fingers, weakened aorta.
Marfan Syndrome
Dominant
an unusually high level of cholesterol in the blood.
Hypercholesteronemia
Dominant
an inherited disorder marked by coffee-
colored patches on the skin and neurofibromass formed along
nerves, causing visual and hearing impairment, other nervous
disorders, and sometimes major complications.
Neurofibromatosis
Dominant
with extra fingers and toes.
Polydactyly
Dominant
