KONSEP DASAR GENETIKA KEDOKTERAN (19 September 2016)

Suratno Lulut Ratnoglik, MD., PhD

Email : sl.ratnoglik@yahoo.com

Referensi:
- Genetics in Medicine, 7 edition. Nussbaum, McInnes & Williard. W.B. Saunders
Co. (2007)
- Human Genetics-Concepts and Application, 9 Edition Lewis (2009)

Introducing Genes
Gen are the instructions to manufacture proteins, which determine inherited
traits.
A genome is a complete set of genetic information.
A cell, the unit of life, contains two genomes of DNA.
Genomics is the study of many genes and their interactions.

Level of Genetics
- Genes encode proeins and the RNA molecules that synthesize proteins.
- RNA carries the gene sequence information so that it can be utilized, while
the DNA is transmitted when the cell divides. Much of the genome does not
encode protein.
- Variants of a gene, called alles, aries by mutation.
- Alleles may differ slightly from one another, but encode the same product.
- A polymorphism is a site or sequence of DNA that varies in one percent or
more of a population.
- Genome-wide association studies compare landmarks across the
genomes among individuals who share a trait.
- Gene expression profiling examines which genes are more or less active in
particular cell types.
- Chromosomes consist of DNA and protein.
- The 22 types of autosomes do not include genes that specify sex.
- The X and Y sex cromosomes bear genes that determine sex.
- Cells differentiate by expressing subsets of genes.
- Stem cells divide to yield other stem cells and cells that differentiate.