Genetic based disease patho 1

Question 1

types of mutation that lead to no change in protein structure- fuction

Answer 1

silent- no change in amino acid sequence

Question 2

type of mutations that lead to a change in protein structure- function

Answer 2

-missense- sibstitution of amino acid
-non-frameshift mutation- add or delete amino acid

Question 3

type of mutation leading to no protein product

Answer 3

-nonsense
-frameshift
immature stop codon

Question 4

klinefetter syndrome

Answer 4

-chromosomal disorder on sex- linked: XXY
-typical male genitalia at brith- during puberty, improper testicular growth and spermatogenesis
clinical issues: infertility, cog impairment, ^ risk of diabetes, bone disease and repro cancer, decrease muscle mass, long arms

Question 5

turner syndrome

Answer 5

-chromosomal disorder- sex linked: XO
-phenotypically female at birth, affects estrogen and growth hormone
clinical issues: lymphodema, amenorrhea, lack of breasts, short stature, narrow hips, broad chest, webbed neck, cardiovascular issues

Question 6

down syndrome

Answer 6

-chromosomal disorder- trisomy 21
-intellectual disability, multi organ system
-cognitive delay, distinct facial feature, heart and intestinal complications, ^ risk for cancer and alzeimer’s

Question 7

Tay Sach’s disease

Answer 7

-enzyme deficiency; HEXA, w/o HEXA, gangliosides accumulate and are toxic to nervous system
-autosomal recessive
-motor incordination, cog impairment, red spot in retina, nerve degen, death by 3

Question 8

Gaucher disease

Answer 8

enzyme deficiency, GCASE accumulates and is toxic to nervous system
-autosomal recessive
-lysosomal storage disease
-hepatomegaly, splenomegaly, weakness, bruising, yellow deposits in sclera

Question 9

G6PD deficiency

Answer 9

enzyme deficiency, G6PD catalyze reaction to produce NADPH, RBC’s under go hemolysis
-X-linked recessive
clinical issues: jaundice, from bilirubin build up

Question 10

sickle cell anemia

Answer 10

-transport protein, HBB, alters folding of hemoglobin— shape of RBC alters O2 transport, can cause hemolysis
-autosomal recessive
clinical issue: anemia, occuladed capillaries– severe pain, stroke, heart attack, jaundice, splenomegaly

Question 11

fragile X syndrome

Answer 11

trinucleotide repeat, nonframeshift, FMR1
-X-linked dominant
-RNA binding protein involved in sythesis, affecting multi-organ system
clinical issues: autistic like behaviors, hypermobile joints, elongated face, scoliosis, repro

Question 12

Hungtington’s disease

Answer 12

trinucleotide repeat, HTT; toxic build up of HTT w polyglutamine— neurodegeneration
-autosomal dominant
clinical issues: chorea, difficulty swallowing and speech, depression, dementia, akinesia