Mod 5 Exam 4 Flashcards
Insertion mutation
Adds one or more extra nucleotides into DNA seq - alters the reading frame
Autosomal dominant
Non-sex linked disorder mediated by the dominant allele
Autosomal recessive
Non-sex linked disorder mediated by recessive allele
X-linked recessive
Sex linked disorder caused by recessive allele on the X chromosome. You need both recessive alleles in females, only need one in males
Marfan’s syndrome - type and cause
Autosomal dominant. Missense mutation of Fibrillin-1. FBN1 is an essential glycoprotein in ECM and in prod/ maint. of elastic fibers (abundant in eye, ligaments and aorta). Mutant FBN1 can’t sequester TGF-B which is important for growth factors.
Sickle Cell Anemia - Type and cause
Autosomal recessive. Missense mutation in B-Globin on hemoglobin. Cuases RBC to become rigid, and sickle shaped. Cause ischemia, vessel occlusion. They deplete fast - anemia.
Sickle Cell Anemia - S/ S
Low RBC count, extreme fatigue, Crises (chest, abdomen and joint pain from ischemia), edema, risk of stroke and acute chest syndrome.
Sickle Cell Anemia - protective factor?
People who are heterozygous (Aa) have both normal and sickle shaped RBC (Co-dominance). They are protected from malaria, but aa and AA are not.
Spinal muscle atrophy - type and cause
Autosomal recessive, SMN1 gene. Affects the anterior horn/ motor neurons.
Spinal muscle atrophy - S/ S
Progressive muscle wasting and mobility impairment; starting from proximal muscles of arms and legs.
Rett Syndrome - S/ S
Delayed growth, loss of movement and coordination, loss of communication abilities, hand tapping, unusual eye movements, agitation, cognitive disability, seizures, scoliosis, pain
Protanopia
Dichromacy, lack red cones - can’t see red
Deuteranopia
Lack green cones - can’t see green
Protanomaly
Mutated form of red pigment in cones
Deuteranomaly
Mutated form of the green pigment in cones. Most common type of colour blindness.
