Genetic Testing

mutation

a variation in the sequence of nucleotides which can alter the structure of a protein

Point Mutation (Substitution)

A mutation that exchanges one base for another (T for A, C for G)

What are the three affects of Point mutation?

Nonsense, Missense, Silent

Nonsense

ends in a stop

Missense

changes one amino acid

Silent

doesn’t change the amino acid

Frameshift

Changes all subsequent amino acids

Insertion

the addition of a nucleotide

Deletion

the deletion of a nucleotide

Which is worse point or frameshift?

Frameshift

How do mutations affect your phenotype?

they alter the 3D shape of proteins (folding pattern depends on side group)

What causes mutations?

1. Spontaneous mistakes during replication! ERRORS!

2. Mutagens: chem or physical agents

Are Mutations Harmful or Beneficial?

Depends on protein involved

• physical traits may give species an advantage

• chem traits may cause disease

Myostatin gene

Inhibits muscle growth

Genetic Testing

• looks at the genetic makeup of an induvial to determine what type of allele or gene markers they carry.

• some tests are definitive while others indicate the RISK someone has for a possible trait.

Why do Genetic Testing?

• family history of one specific disease - carrier identification or late-onset disorders

• newborn symptoms of genetic disorder

• they are concerned about passing on a genetic problem to their children prenatal

How is Genetic Testing done?

• blood tests

• saliva

• karyotype - chromosomes

What are some concerns of Genetic Testing?

How is info used? by who? are tests definitive? if you have the gene, are you going to develop the trait?