MEDRADSC 1B03 - Genetic Engineering, Gene Therapy and Down Syndrome

gene manipulation

removal of defective genes which are replaced with normal ones to reduce the risk of genetic defects in newborns

genetic therapy

the introduction of genes into multicellular plants and animals

in which type of genetic mutation is genetic therapy most effective?

single-gene mutations

methods of gene therapy

1. transferred genes replace defective genes

2. selective inhibition of harmful genes

concerns associated with genetic therapy

- what are the effects on human health associated with consuming genetically modified organisms?

- what are the parameters for access to information about genetic findings and exploration?

genetic engineering

the manipulation of nucleic acids and recombination of genes into hybrid molecules that can be inserted into unicellular organisms

human genome project

the project has mapped out 20,000 to 25,000 genes that code for proteins in the human body

human genome project - current studies

in the process of completing DNA sequencing and identifying the roles of each gene

down syndrome

a condition caused by a genetic mutation on chromosome 21 known as trisomy 21

possible causes of down syndrome

95% of trisomy 21 is caused by an error in cell division during meiosis

unknowns of down syndrome

- Is damage to an oocyte a result of degeneration due to age?

- Are there environmental factors that influence this mutation?

common prenatal testing methods for down syndrome

triple screen and maternal blood tests

triple screen

screening for aplha-fetoprotein (AFP), human chorionic gonadotrophin (hCG) and unconjugated estriol

fetal nuchal translucency

an intravaginal ultrasound of the neck area of the fetus in the first trimester

additional prenatal testing for down syndrome

amniocentesis, chorionic villus sampling and percutaneous umbilical blood sampling (PUBS)