Author: Tanya Fillingham

Every living organism inherits a blueprint for life from its parents.

Vocabulary:
Gene– a a heritable factor that consists of a length of DNA and influences a specific characteristic.
Loci— Position of a gene o a particular chromosome.
Allele– Alternative forms of a gene that code for different variations of a specific trait.
Genome– Whole genetic information of an organism.

Human Genome Project:
Entire genome sequenced
- Gene Mapping
- Screening
-Medicine
- Ancestry

Sickle Cell Anemia
-Change of 6th codon of hemoglobin
Normal Sickle Cell
(sense) CTC CAC*
(mRNA) GAG GUG
(a.a.) Glu Val
Structure Globular Fibrous
Shape Normal Clumped
*Base Substitution

(Specific location)

Species # of genes
Bacteria 4,200
Chicken !7,000
Human 21,000
Water flea 31,000
Rice 38,000

Alleles:
CACCAGCAACCC (Transduction protein synthesized, color vision possible)
CACCAGTAACCC (Protein not formed correctly, color vision not possible)

Mutations:
Beneficial: Change the gene sequences (missense) creating new alleles (variations)
Detrimental: (nonsense) shorten gene sequence changing normal functions.
Neutral: Has no effect (silent mutation)

Normal: BEAST
Substitution: FEAST
Insertion: BREAST
Deletion: BEST
Inversion: BEATS

Effects:
Silent: a.a. sequence not altered.
Missense: a.a. change in seq (sickle cell)
Nonsense: Premature stop (cystic fibrousis)
Frameshift: Change in every codon