Basic Genetics

Gregor Mendel

-used pea plants

-examined simple characteristics with a "yes" or "no" answer

 

Gene = unit of inheritance

e.g. flower color

Allele = particular version of a gene

e.g. red or white

 

 Organism Number of Genes
virus 3-300
bacteria 500-4000
plants/animals 5000-50,000 (2 copies)

 

If a red colored flower is the wild type then that plant has a gene that encodes an enzyme to work on a precursor molecule and express the red color. The mutant has a mutant version of this enzyme gene in which no enzyme is made and therefore the flower is white.

 

1. Wild type allele

-as found in nature

-functional

 

2. Mutant allele

-defective version

 

Beadle and Tatum

"one gene - one enzyme" - exceptions do exist but this usually is true

 

Two-step Pathway

gene I       gene II

  ||         ||
  ||         ||
  \/         \/

enzyme I     enzyme II

  ||         ||
  ||         ||
  \/         \/

  A      +    B      =PIGMENT

 

 

If gene I is defective = no pigment

If gene II is defective = no pigment

If both are defective = no pigment

 

phenotype = description of observable characteristics

 

genotype = description of the genes

 

Chromosome = giant molecule of DNA carrying many genes

Haploid = has one copy of each gene

Diploid = has two copies of each gene

 

Homozygous = both alleles are identical

e.g. RR = red (homozygous dominant) R is dominant

rr = white (homozygous recessive) r is recessive

 

Heterozygous = one copy of each allele

The wild type is usually dominant, but this is not always the case

 

The nucleus of a somatic cell is diploid containing chromosome pairs. The cell undergoes meiosis and this "chooses" a single set of chromosomes at random. This haploid cell is a germ cell (egg or sperm).

Genetic Cross

Parents: Red Flowers (homozygous RR) and

White Flowers (homozygous rr)

Following meiosis, the gametes are:

RR --> R

rr --> r

 

F1 or First Filial Generation = Rr

This cross will yield flowers that are heterozygous and red.

 

Rr and Rr Cross of F1 generation

The F2 generation will have a 3:1 red:white phenotypic ratio.

The genotypes will be 1/4 RR, 1/4 Rr, 1/4 rR and 1/4 rr.

 

Checkerboard Cross of Rr and Rr

Parent #1 is horizontal across the top

Parent #2 is vertical down the left side

 

 R

 r

 R

 RR

 Rr

 r

 Rr

 rr

1:2:1 = Genotypic ratio

3:1 = Phenotypic ratio

 

Sex Determination

The 23rd pair of chromosomes in humans are the X and Y

Female = XX

Male = XY

 

Sex-linked defects are only in males because have only one copy of the X chromosome.

 

 X

 X

 X

 XX

 XX

 Y

 XY

 XY

There is a 1:1 ratio of producing a male (XY) or female (XX) child

 

Partial Dominance

RR = two doses of red pigment

Rr = one dose of red pigment

rr = no doses of red pigment

With dominance one copy of active gene is sufficient so Rr = Red

 

Less common situation -

Rr = pink = partial dominance, where one good copy is not enough

 

Codominance

R = makes red pigment

r = makes no pigment

B = makes altered, blue pigment

 

RR and Rr = red

BB and Br = blue

rr = white, no pigment

BR = PURPLE, a mixture of red and blue pigments because R and B are both functional alleles of this gene

 

Linkage

below are 2 pairs of chromosomes (DNA)

 

  A         B         C         r
-----------------------------------------

  a         b         c        R
-----------------------------------------


     D         E
---------------------

     d         e
----------------------

 

A, B, C, and r are linked

D is not linked to A, B, C, r linkage group

D is linked to E

 

gametes = ABCr, abcR

genes on the same molecule of DNA stay together

 

Recombination

The further apart genes are the more frequent the recombination.

 

Recombination diagram

 


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Last updated: 4-Feb-99 / laa