Genetic Disorders Flashcards
What’s the most common cause of chromosomal disorders?
Failure of the homologous chromosomes to separate in meiosis 1.
What is nondisjunction?
Failure of the homologous chromosomes to separate in meiosis 1.
What’s a common form of nondisjunction?
Down Syndrome
What is turner syndrome?
It’s where you only inherit 1 x chromosome.
What is Klinefelter’s Syndrome?
Man has extra x chromosome
What can alter an individual’s phenotype?
A simple change in the amino acid’s sequence can change the protein’s function on how to express a phenotype. This creates the wrong function and organizes the wrong amino acids.
What are 3 diseases caused by changes in individual genes?
Huntington’s Disease, Cystic Fibrosis, Sickle Cell Disease
What is Sickle Cell Disease?
The hemoglobin, the oxygen carrying protein on blood cells, doesn’t work. This causes the red blood cell to distort its shape and it doesn’t work.
What is the gene mutation for Sickle Cell Disease?
It is on chromosome 11 where thymine is used instead of adenine. Instead of GAG, it does GTG which messes up the protein.
What is Cystic Fibrosis?
It’s a protein mutation that stops negative chloride ions from across the membrane. This causes thick heavy mucus to clog our lungs and breathing passageways.
What’s the genetic mutation in Cystic Fibrosis?
It’s the deletion of 3 basses from a gene that creates a protein called CFCR
What’s Huntington’s Disease?
It’s a mental deterioration and uncontrollable movements that starts in middle age.
What’s the genetic Mutation?
One of the brain cells DNA starts forming a protein with the same codons over and over again.
What’s the value of the Cystic Fibrosis allele?
If you were a heterozygous carrier, you wouldn’t get Cystic Fibrosis but you would be a carrier, and it creates a resistance against Typhoid Fever.
What’s the value of Sickle Cell allele?
Being a carrier of the sickle cell allele gives you resistance to maleria.
