chromosomal inheritance Flashcards
what are the recessive diseases
sickle cell anemia
cystic fibrosis
tay sachs
colorblindness and hemophilia
duchenne musculary dystrophy
what are the dominant diseases
Huntington’s disease
Achondroplasia
Sickle cell anemia
it’s caused by a defective allele for beta globin, which is one of the two polypeptides for hemoglobin
It makes hemoglobin less so soluble, causing it to stick together when the blood oxygen level decreases
As a result, hemoglobin tends to clump into long fibers that push against the membranes of red blood cells which distort their shape
cystic fibrosis
It’s a result of the deletion of three bases in the gene for a protein called cystic fibrosis trans membrane conduction regulator CFTR
The loss of these bases removes a single amino acid from CFTR which causes it to fold in properly
if you have one normal gene and one defective CFTR gene
two normal CFTR genes results in a healthy person
One normal gene, and one defective gene results in a carrier with no symptoms
Two defective CFTR genes results in cystic fibrosis
Huntington’s disease
It’s caused by a mutation in the HTT gene
The allele for a protein found in the brain cell contains a long string of basis in which the called Don CAG, which quotes for the amino acid repeats itself over and over again
The reason for that is still unclear
The more the codon appears the earlier the disease appears
Achondroplasia
It’s caused by mutation in the FGFR3 gene, which helps in regulating bone growth
which leads to dwarfism
tay sachs disease
it disorder in which the brain cell cannot produce an enzyme to metabolize lipids
Leads to an accumulation of lipids on nerve cells lead to the destruction of nerves
Symptoms are losing the ability to turn over crawl or sit in babies. They usually die at the age of five.
Carriers with one produced less of the enzyme than unaffected people
Color blindness, and hemophilia
Inability to form blood clots
duchenne musculary dystrophy
It’s caused by mutation in the DMD gene of the X chromosome
It affects the production of a protein called dystrophin, which is important for muscle strength stability
down syndrome
Caused by an aneuploidy- abnormal number of a chromosome
aneuploidies occur due to non-disjunction were a pair of homologous chromosomes. Do not move apart properly.
Kleinfelter syndrome
It’s caused by genetic anomaly in the sex chromosome it’s also known as as 47XXY where a male has an extra X chromosome
Down syndrome is caused by what?
Trisomy 21
What are the length recessive diseases?
Color blindness, and hemophilia
duchenne musculary dystrophy
what is caused by a genetic anomaly in the sex chromosome
klinefelter syndrome
