Inheritance 1

Genetic terminology Mendelian inheritance

Term Definition Gregor Mendel studied inheritance in pea plants. He chose easy to distinguish characteristics which
Gene The physical unit of heredity importantly:
Locus The site on a chromosome occupied by a gene • were controlled by single genes
Allele Different forms of the same gene • on different chromosomes.
Dominant A gene always expressed when present
Recessive A gene only expressed in a homozygous pair Monohybrid crosses - Single gene inheritance.
Codominant Both alleles contribute to the phenotype 1. Identify the characteristic and designate a letter 2. Give the genotype and phenotype of the
Phenotype The characteristics of an organism to represent the dominant and recessive allele. parents.
Genotype The alleles contained in an organism Tall plants – T Phenotype: Tall plant x Dwarf plant
Homozygous Alleles are the same e.g. HH or hh
Heterozygous Alleles are different e.g. Hh Dwarf plant - t Genotype: TT x tt
F1 First generation in a genetic cross
3. Identify the gametes produced by both parents: 4. Place the gametes in a Punnet
F2 The second generation
square and show all 4 possible
Autosomes Pairs 1-22 of the chromosomes Phenotype: Tall plant x Dwarf plant
crosses at fertilisation. Label
Sex chromosomes Pair 23 that determines sex (male/female in the human.) Genotype: TT x tt each new genotype with the
phenotype.
Gametes:
Codominance - Both alleles are expressed in the phenotype.
T T t t
Eg 1- Blood typing Eg 2 – Colouring in cows
IAIA A antigen on blood cells Some cows are Red (RR) F2 T t F1 t t
IBIB B antigen on blood cells T TT Tt T Tt Tt
Some white (WW)
IAIB Both A and B antigens on blood cells Tall Tall Tall Tall
Offspring can be roan (RW) t Tt Tt T Tt Tt
Tall Dwarf Tall Tall
R R
W RW RW The F2 shows the mendelian phenotype ratio All the offspring in the F1 are tall.
Roan Roan 3:1.
W RW RW
Roan Roan Mendel’s 1st law: the law of segregation - The characteristics of an organism are determined
by factors (genes) which occur in pairs. Only one member of a pair of factors (genes) can be
Incomplete dominance - A blend of both alleles can be seen in the represented in a single gamete.
phenotype.
e.g. Red, white and pink carnations. F2 R W
A cross between red and white R RR RW
Red Pink
Carnation produces an all pink F1.
In the F2 -a cross of 2 pink parents W RW WW
Pink White
there is a phenotypic ratio of:
1 red:2pink:1white.
Inheritance 2

Dihybrid inheritance- 2 gene inheritance Recognising linkage

Independent Mendel experimented with seeds he knew to have dominant yellow/round The mendelian 9:3:3:1 ratio is therefore expected in any
assortment characteristics and recessive wrinkled/green traits. experiment where genes are not linked.

The independent assortment Parental phenotypes Round/yellow Wrinkled/green Linkage, meaning genes occurring on the same chromosome and
of chromosomes in meiosis Parental genotypes RRYY rryy therefore being inherited together, can be detected if the expected
explains why unlinked gametes RY ry ratio is not found in the offspring.
genes (found on different F1 generation RrYy Small numbers of recombinant phenotypes can still occur due to
chromosomes) can combine F1 Phenotype Round/yellow ‘crossing over’ in meiosis.
to form all 4 kinds of gametes
F2 parental genotype RrYy RrYy
shown opposite. Chi squared
F2 gametes RY Ry rY ry
A statistical test used to determine if the numbers and phenotypes
Female gametes
of offspring produced in a genetic cross is close enough to the
RY Ry rY ry expected Mendelian ratio that any difference is due to chance and
RRYY RRYy RrYY RrYy not for any other reason.
RY
Round yellow Round yellow Round yellow Round yellow
Male gametes

1. Null hypothesis
RRYy RRyy RrYy Rryy
Ry A statement e.g. There is no difference between the observed
Round yellow Round green Round yellow Round green
RrYY RrYy rrYY rrYy and expected results of a genetic cross. If the test shows that
rY the deviation from expected ratios is by chance the hypothesis is
Round yellow Round yellow Wrinkled yellow Wrinkled yellow
RrYy Rryy rrYy rryy accepted, if not it is rejected.
ry
Round yellow Round green Wrinkled yellow Wrinkled green 2. Calculate expected numbers

Dihybrid cross phenotypic ratio: Calculate of all the offspring produced how many would you expect
e.g. if 3744 off spring are produced:
9 round yellow: 3 Round green:3 wrinkled yellow: 1 wrinkled green
3744/16 = 234 so
Test crosses 9: (9 x 234 =2106) 3: (3x234= 702) 3: (3x234= 702) 1: 234
Ratios Monohybrid - To determine 3. Chi2
If you take each characteristic if an organism showing a
50%
Σ
dominant phenotype is a (observed value - expected value)2
individually in the dihybrid cross χ2 =
homozygote or heterozygote. Dominant expected value
above, the monohybrid phenotypic R r
ratio still stands. Cross organism with a known phenotype 4. Calculate the degrees of freedom
r Rr Rr
pure breed (homozygote) rr.
Yellow: green seeds = 12: 4 = 3:1 r Rr Rr The number of outcomes -1 e.g. in a 9:3:3:1 there are 4 possible
Dihybrid - cross each 100%
outcomes so the degrees of freedom used would be 3. Use this to
Round: wrinkled seeds =12:4 = 3:1 genotype with homozygote Dominant find the X2 critical value at 5%.
for both characteristics rryy. If phenotype R R
the parent was heterozygous 5. Accept or reject the null hypothesis
r Rr Rr
for 1 characteristic, offspring
r Rr Rr If the calculated value for χ2 < the critical value for χ2 then null
would be produced in a 1:1.
Mendel’s second law of segregation. hypothesis is accepted.
If the parent is heterozygous
The law of independent assortment. for both a 1:1:1:1 ratio would If the calculated value for χ2 > the critical value for χ2 then null
be seen. hypothesis is rejected.
Inheritance 3

Sex linkage - Genes that are sex linked can be found on the sex Mutation Epigenetics
chromosomes.
A mutation is a spontaneous, random change in a gene. Every nucleus in cells of an
Remember females have XX sex chromosomes and males have organism contains a full set
XY. Mutation rates are increased in organisms with short life cycles or
of genes, but in specialised
frequent cell division.
In males, the Y chromosome is smaller than the X chromosome. cells only some genes are
There are genes on the X chromosome that do not have the Occurs mostly during crossing over in prophase 1 and non- expressed, others are switched
homologous locus on the Y chromosome. disjunction in anaphase I and II. off.

Sex linked genes are written as superscript on the chromosome e.g. Advantageous mutations Disadvantageous mutations Epigenetics is the study of
XhY. changes in gene expression without any
Mutations affect protein Some genes called proto- changes to the DNA sequence.
Haemophilia - a disease caused by a recessive allele for Factor 8 synthesis and so change the oncogenes can mutate to
that does not code for the normal blood clotting factor. phenotype of the organism. This become oncogenes, which are Epigenetic changes result from • Diet •
leads to variation in species involved, causing uncontrolled Drugs • Development
In this case the father has the normal gene, but the mother carries that causes evolution by natural cell division to form a cancer. • Aging.
the abnormal recessive allele. selection.
Male children born in this cross have a 50% chance of having the Gene point mutation. E.g. Sickle cell anaemia DNA methylation
disease.
• One mutated base in the DNA code for haemoglobin. DNA bases become methylated which
Gametes XH Y reduces the transcription of the gene and
XH XHXH xH Y • So incorrect amino acid added into a polypeptide chain. so affects protein synthesis.
Xh xHXh XhY • Red blood cell forms a sickle shape and is less efficient at
carrying oxygen. Histone modif ication
A lack of corresponding gene on the Y chromosome means this
disease can be inherited by males with only 1 recessive allele. For a Chromosomal mutations E.g. Down’s syndrome Modification of histones means they
female to inherit this disease, both parents need to be carrying the Failure of chromosome 21 to separate from its homologous pair can coil more tightly, preventing gene
recessive allele. during anaphase I in meiosis forms gametes with 2 copies and at expression, or they can coil loosely
fertilisation the zygote then has 3 copies of chromosome 21. allowing transcription and protein
Duchenne muscular dystrophy synthesis.
Normally an extra chromosome would be fatal to an organism
A progressive muscle disease caused by a sex-linked recessive
but chromosome 21 is small, only a few hundred genes, so the
allele that does not code correctly for the protein dystrophin. Epigenetic changes can cause • Cancer •
organism can survive.
Autoimmune disease • mental disorders •
Diabetes.
A normal female could
have the genotype
XNXN or XNXn

A male with DMD must

be XnY

A normal male must be

XNY