Genetic Disorders Flashcards Preview

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Flashcards in Genetic Disorders Deck (15)
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1
Q

What’s the most common cause of chromosomal disorders?

A

Failure of the homologous chromosomes to separate in meiosis 1.

2
Q

What is nondisjunction?

A

Failure of the homologous chromosomes to separate in meiosis 1.

3
Q

What’s a common form of nondisjunction?

A

Down Syndrome

4
Q

What is turner syndrome?

A

It’s where you only inherit 1 x chromosome.

5
Q

What is Klinefelter’s Syndrome?

A

Man has extra x chromosome

6
Q

What can alter an individual’s phenotype?

A

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.

7
Q

What are 3 diseases caused by changes in individual genes?

A

Huntington’s Disease, Cystic Fibrosis, Sickle Cell Disease

8
Q

What is Sickle Cell Disease?

A

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.

9
Q

What is the gene mutation for Sickle Cell Disease?

A

It is on chromosome 11 where thymine is used instead of adenine. Instead of GAG, it does GTG which messes up the protein.

10
Q

What is Cystic Fibrosis?

A

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.

11
Q

What’s the genetic mutation in Cystic Fibrosis?

A

It’s the deletion of 3 basses from a gene that creates a protein called CFCR

12
Q

What’s Huntington’s Disease?

A

It’s a mental deterioration and uncontrollable movements that starts in middle age.

13
Q

What’s the genetic Mutation?

A

One of the brain cells DNA starts forming a protein with the same codons over and over again.

14
Q

What’s the value of the Cystic Fibrosis allele?

A

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.

15
Q

What’s the value of Sickle Cell allele?

A

Being a carrier of the sickle cell allele gives you resistance to maleria.