Medical Interventions - 2.1

Genetic testing

the use of molecular methods to determine the presence of risk of genetic illness

Mitochondrial

Mutations in the nonchromosomal DNA of the mitochondria (can only be passed down by the mother)

• Leber hereditary optic neuropathy

Carrier screening

Determines if an individual is a carrier of a recessive disease 

• often used when theres a family history or a predisposition 

• Tests for: sickle cell, Tay-sachs

Preimplantation Genetic Diagnosis (PGD)

Used following invito fertilization to diagnose before the embryo implants

• a single cell is taken an examined

• can choose which embryo to implant

(insert pic from notebook)

Fetal screening/prenatal diagnosis

Diagnosis of a developing fetus

• omniocentesis

• chronic villi sampling (CVS)

• regular ultrasounds

Newborn screening

Most widespread/for conditions with early diagnosis and treatment 

What is the target sequence combined with in PCR?

• DNA nucleotides

• TAQ polymerase (heat resistant)

• DNA primers

Denaturation

Strands separate (94°C)

Annealing

Primers attach to target sequence (64°C)

Extension

TAQ polymerase adds new bases (72°C)

What gene were we testing for in the lab?

• Bitter tasting gene

• TAS2R38 gene

• PCT taste receptor gene

Chelex

Chemical compound that bind to metals

What did chelex bind to in the lab and what did this do?

Mg2+ cofactors

prevents DNases from degrading our sample

Non taster vs taster gel elctrophoresis

Nontasters have one band

Tasters have 2-3 bands