Gene Linkage and Genetic

Mapping
Jan Kevin Fernandez
Danriel Dospueblos
Meryl Marie Chua
Trishia Aminah Dillera
Harim Quadrillero

Definition:
Genetic mapping: determining the relative
position of genes along a chromosome
Gene linkage: the tendency of genes located
in the same chromosome to be associated
or inherited together during meiosis.

Genetic mapping is important in human

genetics

Thomas Hunt Morgan

Found out that the
two alleles (white
eyes mutation &
miniature wings
mutation) present in
the X chromosome of
female fly tend
remain together in
inheritance

 Recombination: the exchange of

parts between DNA molecules or
chromosome. The term used for
crossing over"
The use of slash or virgule (/)
denotes which alleles are present in
the parental chromosomes
AA BB x aa bb
AB/ab

 Coupling or cis configuration

Repulsion or trans configuration

 Frequency of recombination: the

proportion of gametes carrying a
combination of alleles that are not
present in the parental chromosomes
Genes with recombination frequency
smaller than 50% are linked.
It is same in either coupling or repulsion;
also either in homologous or in
heterozygous

Recombination results from crossingover between linked

alleles

By: Dospueblos

 Recombination
a chromosome that result from crossing over and
that carriers a combination of alleles differing from
that of either chromosome participating in the
crossover

Genetic map
A diagram of the order of genes in a chromosome in
which the distance between adjacent genes is
proportional to the rate of recombination between
them
Also called linkage map or Chromosome map

Alfred H. Sturtevant
A student of Morgan, who discovered the concept of
genetic map in 1913.

 The Early geneticist

understood that recombination between genes
takes place by an exchange of segments
between homologous chromosomes in process
now called crossing over

 Map unit
Unit of distance in a genetic map
One map unit is equal to 1 percent
recombination
For example:
Two genes that recombine with a frequency of 3.1
percent are said to be located 3.1 map unit

Also called a centimorgan abbreviated

cM in honor of T. H. Morgan.
a distance of 3.1 map units therefore
equals 3.1 cM and indicates 3.1percent
recombination between genes.

 As the frequency of
recombination- in this case 0.0031
As the percent recombination or
3.1 percent
As the distance in map units- in this
example, 3.1 map units
As the distance in centimorgans or
3.1 centimorgans (3.1 cM)

Physically, one map unit corresponds to a length of

the chromosome in which, on the average, one
crossover is formed in every 50 cells

In situations in which there are genetic markers along the chromosome, such
as the A, a and B, b pairs of alleles in Fig. 4.6 recombination between the
marker genes takes place only when a crossover between genes.

Fig. 4 Illustrates a case in which a crossover takes place

between the gene A and the centromere takes place between the genes A and B.

The result is that there is a physical

exchange between the marker
genes, but the double crossover
remains undetected because the
markers themselves are not
recombined.

 The map distance between two

genes equals one-half of the average
number of crossovers that take place
in the region per meiotic cell; it is a
measure of crossing over.
The recombination frequency
between two genes indicates how
much recombination is actually
observed in a particular experiment;
it is a measure of recombination.

Physical Distance is often- but not

always- correlated with map distance
The greater the physical separation
between genes along a chromosome, the
greater the map distance between them.
Physical distance and genetic map
distance are usually correlated, because
the greater distance between genetic
markers affords a greater chance for
crossover to take place.; crossing over is a
physical exchange between the chromatids
of paired homologous chromosomes.

One crossover can undo the effects

of another
When two genes are located far
apart along a chromosome, more
than one crossover can be formed
between them.
The probability of multiple crossover
increases with the distance between
genes.

 no matter how far apart two

genes may be, the maximum
frequency of recombination
between any two genes is 50
percent

Recombination is initiated
by a double-stranded
break in DNA.
By: Chua

Recombination

 It is a complex process that involves

alignment of two homologous DNA strands,
precise breakage of each strand, equal
exchange of DNA segments between the
two strands, and sealing of the resultant
recombined DNA molecules through the
action of enzymes called ligases.
It occurs when two molecules of DNA
exchange pieces of their genetic material
with each other.

 Chiasma - point where two homologous

non-sister chromatids exchange genetic
material during crossover
Double strand breaks (DBS) when
this happens, a homologous
chromosome can serve as the template
for synthesis of whatever portion of the
genetic material has been lost as a result
of the break

 In homologous recombination, two double

helices align and are nicked. Then RecA
catalyzes the invasion of each double helix
by one strand of the other. This forms a
crossed structure called a Holliday
junction, and was named after Robin
Holliday.
The breakage and rejoining is an enzymatic
function carried out by an enzyme called
Holliday junction-resolving enzyme.