INTRODUCTION: WHAT IS A GENE LECTURE 1

Question 1

What is a Gene: 11

Answer 1

1. ➢ A specific DNA sequence on a specific chromosome.
2. ➢ A unit of hereditary information that occupies a fixed position (locus) on
   a chromosome.
3. ➢ Genes are composed of deoxyribonucleic acid (DNA)
   
   4. Exception: some viruses have genes consisting of ribonucleic acid (RNA).
4. ➢ Many genes within the cells of organisms are inactive much or even all of the time.
   
   6. Gene expression can be regulated: switched on or off or modulated.
5. Genes can encode for proteins or functional RNA molecules (ribosomal RNA,
   tRNA, non-coding, regulatory RNAs
6. Genes are inherited during cell division and reproduction
7. Mutations in genes cause genetic variation: diseases, new phenotypes - evolution

Question 2

What is Genetics

Answer 2

➢ Genetics
- the study of heredity
- the study of the function and the molecular composition of a gene

Question 3

STUDY A PEDIGREE

Answer 3

SQUARE - MALE

CIRCLE - FEMALE

COLOURED - AFFECTED

NOT COLOURED - NOT AFFECTED

Question 4

What is a Genome: 4

Answer 4

1. ➢ The sum - the complete haploid complement of a cell - of all genetic material in an individual (genes and chromosomes)
2. ➢ A genome provides all the information about an organism and directs all vital processes
3. ➢ Includes coding regions (=genes) and non-coding regions
4. ➢ Human genome: nuclear and mitochondrial genome

Question 5

What is Genomics:

Answer 5

1. ➢ Subdiscipline of Genetics
2. ➢ the study of an organism’s complete
   set of genetic information.
3. ➢ Study of all the genes in an organism
   and their interactions
   4. ▪ On DNA, RNA and proteome
      level
   5. ▪ Cellular, tissue or organism level

Question 6

Genomics USES…3

Answer 6

▪ Mapping

▪ Sequencing

▪ Functional analysis

Question 7

DIAGRAMS

Answer 7

FROM SLIDES 21- 22