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Genetics

Definitions
• Inheritance – the transmission of genetic information in the form of genes from one generation to
the next
• Gene – a length of the genetic material DNA that codes for the manufacture of a particular
protein. It can be copied and passed on to future generations e.g. amylase enzyme, collagen of
skin.
• Chromosome – a molecule (strand) of DN associated !ith proteins consisting of about "###
genes inherited as a unit e.g. the $ and % chromosomes.
• Allele – one or more alternative forms of a gene occupying the same position on a chromosome
e.g. I

, I
&
, i of human blood groups.
• Genotype – the genetic makeup of an organism, the alleles for a particular gene that the organism
has e.g. I

i.
• Phenotype – the characteristics (physical features or chemical makeup) of an organism e.g.
blood group, cat coat colour. 'he en(ironment may affect the phenotype e.g. human skin colour,
height
• Homozygous – ha(ing t!o identical alleles of a gene e.g. I
&
I
&
. 'he organism !ill be pure
breeding as it can only pass on one form of an allele
• Heterozygous – ha(ing t!o different alleles of a gene e.g. I

i. 'he organism !ill be not be pure
breeding as it can pass on one of t!o forms of an allele
• Dominant allele – the allele that is al!ays expressed in the phenotype if it is present e.g. I

I
)

genotype gi(es a blood group phenotype of group as I

*i
• ecessive allele + the allele that is only expressed in the phenotype in the absence of the dominant
allele e.g. ii

gi(ing ) blood group, ) is recessi(e so I

i !ould be blood group.
• Diploid nucleus !"n# – a nucleus containing a pair of each chromosome. ll human body cells
are produced by mitosis and are diploid !ith $% chromosomes (,- inherited from the father, ,-
from the mother)
• Haploid nucleus !n# – a nucleus containing one of each pair of chromosomes. .ach human
gamete produced by meiosis contains ,- chromosomes to produce a zygote !ith /0 chromosomes
at fertilisation.
• &utation – a spontaneous change in a gene or a chromosome. It can be inherited by the
offspring e.g. 1aemophilia, colour blindness (gene) and Do!ns2s syndrome (extra chromosome).
3utation is a dri(ing force of (ariation and e(olution but mutations are usually disad(antageous.
Ionising radiation and mutagenic chemicals can cause mutations.
' 'ic(le)cell anaemia is a mutation of the haemoglobin gene. 'he phenotype has a defect in
haemoglobin !hich causes red blood cells to flatten. 'hey can therefore carry less oxygen and the
person is lethargic, often thin and unfit. 'hese cells cannot be infected by the malarial parasite and
therefore the sufferer is immune to a common, often fatal, disease.
'olving Genetics Problems
". 4ead carefully.
,. 5nderstand the nature of the problem.
-. 4emember that parents and offspring ha(e t!o alleles (genes, possibly different) for each trait
(characteristic) and gametes ha(e one selected at random.
.xample6
!ire+haired male %orkshire terrier is mated !ith a smooth haired female. ll the puppies ha(e !ire hair.
7hen the pups are interbred amongst themsel(es, the litters produced total -, !ire+haired and "- smooth puppies.
.xplain the pattern of inheritance.
7hat !ould be the predicted result of crossing one of the 8
"
generation males !ith a smooth+haired female9
1o! could you determine the genotype of a !ire+haired female of the 8
"
generation9
%our thoughts are in italics6
!ire+haired male %orkshire terrier is mated !ith a smooth haired female (P generation). ll the puppies ha(e
!ire hair (wire is dominant, W>w where W is the allele fore wire-hair and w for smooth. The parents are both
homozygous, WW and ww).
7hen the pups (F

!eneration) are interbred amongst themsel(es, the litters produced total -, !ire+haired and "-
smooth puppies (puppies are heterozygous Ww, inherited W from male and w from female).
.xplain the pattern of inheritance.
7hat !ould be the predicted result of crossing one of the 8
"
generation males !ith a smooth+haired female9
(smooth hair is re"essi#e homozygous)
1o! could you determine the genotype of a !ire+haired female of the 8
"
generation9
:olution6
;arental cross
; generation phenotype !ire x smooth
; generation genotype 77 x !!
; generation gametes 7,7 x !,!
;unnet :<uare to sho! the possible outcome of the cross
8em=3ale gametes 7 7
! 7! 7!
! 7! 7!
8
"
generation genotype "##> 7! heterozygous
8
"
generation phenotype "##> !ire+haired
Interbreeding the 8
"
generation
8
"
generation phenotype 7ire x 7ire
8
"
generation genotype 7! x 7!
8
"
generation gametes 7!, x 7,!
;unnet :<uare to sho! the possible outcome of the cross
8em=3ale gametes 7 !
7 77 7!
! 7! 7!
8
,
generation genotype ,?> 77, ?#> 7!, ,?>!!
8
,
generation phenotype @?> !ire+haired, ,?> smooth.
'his corresponds closely to the actual ratio of -, !ire+hair to "- smooth. 'he ;unnet :<uare is a predicted outcome
of the crossA the actual offspring ratio is achie(ed by chance meeting of gametes.
female of the 8
,
generation could be homozygous or heterozygous. If she is bred !ith a smooth haired dog in a
backcross, the resulting offspring !ill elucidate her genotype.
Dra! a ;unnet :<uare for this cross and explain !hy using the recessi(e homozygous allo!s elucidation of
genotype.
No! do the follo!ing problems6
". pure breeding &lack Babrador is mated !ith a !hite Babrador. 'he offspring are all black. ;redict the
outcome of interbreeding the 8
"
generation.
,. If you !ere the pet+carer of a black male Babrador, ho! !ould you determine !hether it !as homozygous
or heterozygous9
-. Interdigital hair is dominant o(er hairless digits. :ho! ho! t!o parents !ith interdigital hair could ha(e a
first child !ith hairless digits. 7hat is the probability that their second child !ill ha(e interdigital hair9
/. ;ollen from a red flo!ered ;ea ;lant !as used to fertilise a !hite flo!ered plant, 'he seeds !ere so!n and
it !as found that ",@ of the resulting plants !ere !hite flo!ered and "-/ !ere red flo!ered. Deduce the
;arental genotypes and explain the result of the cross.
' Codominance
8or some characteristics, one allele does not dominate another and both are expressed in the phenotype. n
example is roan coat colour in cattle !hich is formed !hen pure+breeding !hite is crossed !ith pure breeding
bro!n coat. 'he roan calf is heterozygous and has both !hite and bro!n hair.
5se 4 for 4ed coat and 4C for 7hite
4 D 4C (codominant).
Eomplete6
;arental cross
; generation phenotype
; generation genotype
; generation gametes
;unnet :<uare to sho! the possible outcome of the cross
8em=3ale gametes
8
"
generation genotype "##>
8
"
generation phenotype "##>
;roblem6
In the :napdragon, pink flo!er colour is due to codominance bet!een red and !hite flo!er colour. ;redict the
result of a cross bet!een t!o pink flo!ered plants. If a total of "-- seeds are produced, ho! many !ould you
predict !ould ha(e !hite flo!ers !hen germinated9
' &ultiple Alleles
8or some characteristics, there are more than t!o alleles in the genome. ny indi(idual possesses t!o genes but
there are a larger number of genotypes.
n example is 1uman &lood Froups.
'here are three alleles* I
A
* I
+
* i, I
A
- I
+
. i.
n indi(idual can possess any t/o alleles !hich determine his phenotype, the +lood group* A* +* A+ or 0,
Fenotype ;henotype (&lood Froup) Note
I

I

I

i I

* i
I

I
&
& I

D I
&
I
&
I
&
&
I
&
i & I
&
* i
ii )
'hree babies !ere born at the same time in the same !ard at a hospital and there !as some confusion as to the
parentage so each parent and child !as tested to determine their blood group.
'he result !as6
;arent &aby
Name 3ale &lood Froup 8emale &lood Froup Eode Name &lood Froup
4eek & &
4it & & E )
Gech ) ) F
Dra! ;unnet :<uares for each ;arental crossA can you determine the parentage of each of the babies9
8or !hich baby can !e not be sure of the genotype9
Ean &lood Froup alone determine parentage9
1he inheritance of gender,
Gender (male or female) is determined by chromosomal inheritance. 'he ,-
rd
pair of chromosomes $ and % is
called the heterosomes because they (ary in appearance and genetic content.
2emales contain t/o 3 chromosomes, males ha(e one 3 and one 4, the % chromosome determines maleness but
does not contain any alleles that match any genes on the $ chromosome.
Dra! a ;unnet :<uare to sho! !hy there is an e<ual chance of a male or female baby from reproduction in a
human.
'ex)Inherited 1raits,
Eertain traits, examples are Haemophilia and ed)Green colour blindness, are inherited on the 3 chromosome,
there is no e<ui(alent allele on the % chromosome so the ;henotype of the indi(idual !ill be affected by the
gender. &oth 1aemophilia and 4ed+Freen colour blindness are recessi(e mutations that are due to a mutant gene
!hich pre(ents the manufacture of a protein needed for red=green colour (ision or the clotting of blood.
5se the follo!ing notation6
$ – normal $ chromosome
% – Normal % chromosome
$C + affected $ chromosome
7ork out the Fenotypes and ;henotypes to complete the table belo!6
Fender Hision Fenotype Notes
$%
4ed+Freen colour blind
Normal
Normal Earrier
$C$C
ns!er the follo!ing <uestions using ;unnet :<uaresA
". If a red+green colour blind male has one daughter !ith a normal sighted female !hose family has no
history of colour blindness, !hat is the probability that their fourth grandchild !ill be a colour blind male if
her partner is a normal male9
,. 'sarina lexandra !as a carrier of 1aemophilia. 7hat is the probability that her haemophilic son ;rince
lexander had the affliction9 1ad he sur(i(ed, could he ha(e passed the affliction on to his sons9