VISHESH YADAV

Group 4
 TOPIC

Linkage inheritance .
Genetics of Sex .
Sex-linked inheritance.
 GENETIC LINKAGE
• Genetic linkage is the tendency of DNA sequences that are
close together on a chromosome to be inherited together
during the meiosis phase of sexual reproduction. Two 
genetic markers that are physically near to each other are
unlikely to be separated onto different chromatids during 
chromosomal crossover, and are therefore said to be
more linked than markers that are far apart. In other
words, the nearer two genes are on a chromosome, the
lower the chance of recombination between them, and
the more likely they are to be inherited together. Markers
on different chromosomes are perfectly unlinked.
• Genetic linkage is the most prominent exception to Gregor
Mendel's Law of Independent Assortment. The first experiment
to demonstrate linkage was carried out in 1905. At the time, the
reason why certain traits tend to be inherited together was
unknown. Later work revealed that genes are physical
structures related by physical distance.
• The typical unit of genetic linkage is the centimorgan (cM). A
distance of 1 cM between two markers means that the markers
are separated to different chromosomes on average once per
100 meiotic product, thus once per 50 meioses.
• Gregor Mendel's Law of Independent Assortment states that
every trait is inherited independently of every other trait. But
shortly after Mendel's work was rediscovered, exceptions to
this rule were found. In 1905, the Britishgeneticists William
Bateson, Edith Rebecce Saundersand Reginald Punnettcross-
bred pea plants in experiments similar to Mendel's
• They were interested in trait inheritance in the sweet pea and were
studying two genes—the gene for flower colour (P, purple, and p,
red) and the gene affecting the shape of pollen grains (L, long,
and l, round). They crossed the pure lines PPLL and ppll and then
self-crossed the resulting PpLl lines.
• Their experiment revealed linkage between the P and L alleles and
the p and l alleles. The frequency of P occurring together
with L and p occurring together with l is greater than that of the
recombinant Pl and pL. The recombination frequency is more difficult to
compute in an F2 cross than a backcross,[3] but the lack of fit between
observed and expected numbers of progeny in the above table indicate it
is less than 50%. This indicated that two factors interacted in some way to
create this difference by masking the appearance of the other two
phenotypes. This led to the conclusion that some traits are related to each
other because of their near proximity to each other on a chromosome.
 Linkage map
• A linkage map (also known as a genetic map) is a table for a species or
experimental population that shows the position of its known genes or 
genetic markers relative to each other in terms of recombination frequency,
rather than a specific physical distance along each chromosome. Linkage maps
were first developed by Alfred Sturtevant, a student of Thomas Hunt Morgan.
• A linkage map is a map based on the frequencies of recombination between
markers during crossover of homologous chromosomes. 
 Genetic Mechanism of Sex Determination in
Human
• In humans, sex determination is the process that determines the biological sex of
an offspring and, as a result, the sexual characteristics that they will develop.
Humans typically develop as either male or female, depending on the
combination of sex chromosomes that they inherit from their parents. The human
sex chromosomes, called X and Y, are structures in human cells made up of tightly
bound deoxyribonucleic acid, or DNA, and proteins. Those are molecules that
contain the instructions for the development and functioning of all life forms,
including the development of physical traits and body parts that correspond with
each biological sex. Humans who inherit two X chromosomes typically develop as
females, while humans with one X and one Y chromosome typically develop as
males. Sex determination is the beginning of the development of many
characteristics that influence how a human looks and functions as well as the
societal expectations that other humans have for each other.
• The process of sex determination begins after fertilization, a process where male
and female germ cells fuse to form a zygote, or a single-celled, fertilized egg.
Germ cells are those that carry genetic information from parents to offspring
during fertilization
• Male germ cells are sperm cells and female germ cells are egg cells.
When the egg and sperm cells fuse, the zygote divides into multiple
cells and later forms an embryo. The embryo includes a combination of
part of each parent’s genetic information, including one sex
chromosome from each parent. The combination of sex chromosomes
that an embryo inherits from germ cells determines what biological sex
it will later develop as.
 Genetic Mechanism of Sex Determination
in Animal
• Biological mechanisms leading to the development of males and females are
extremely varied. In the XX/XY system, the male has an unequal pair of
chromosomes, while in the ZZ/ZW system, the unequal pair is in the female. Sex can
also be determined by the temperature of incubation. Recent research has focused
on the identification of sex-determining genes, culminating in the demonstration
that the Sry gene on the Y chromosome of mice can induce male development in
genetically female XX mouse embryos. Nevertheless, the occurrence of phenotypes
in apparent contrast to the genotype suggests that the genetic male/female switch
is not simple, and there may be common features linking different sex-determining
mechanisms. There is increasing evidence that such a link may be provided by the
induction of growth differences, and that the primary sex difference may result from
the distinction between fast versus slow growth.
 the other hand, for Dipterans and Drosophila melanogaster, sex is determined by the
ratio of X chromosomes to autosomes and the sex switching gene, sxl. Another model
organism whose sex depends on the X:A ratio, Caenorhabditis elegans, has furthermore
to provide for the brief period of spermatogenesis in hermaphrodites (XX) without the
benefit of the "male" genes of the sex determination pathway.
• Homogametic sex - Organisms or individuals producing one kind of
gametes. an organism or individual producing all the gametes of
same type. Eg; XX

• Heterogametic sex - they produce two kinds of gametes, one

having an X chromosome and another having a Y chromosome.
Eg; XY

• Hemizygosity -  an individual who has only one member of a

chromosome pair or chromosome segment rather than the usual
two. Hemizygosity is often used to describe X-linked genes in
males who have only one X chromosome.
 Inheritance of Sex linked traits
• Sex-linked diseases are passed down through families through
one of the X or Y chromosomes. X and Y are sex chromosomes.
• Dominant inheritance occurs when an abnormal gene from one
parent causes disease, even though the matching gene from the
other parent is normal. The abnormal gene dominates.
• But in recessive inheritance, both matching genes must be
abnormal to cause disease. If only one gene in the pair is
abnormal, the disease does not occur or it is mild. Someone who
has one abnormal gene (but no symptoms) is called a carrier.
Carriers can pass abnormal genes to their children.
• The term "sex-linked recessive" most often refers to X-linked
recessive.
• X-linked recessive diseases most often occur in
males. Males have only one X chromosome. A
single recessive gene on that X chromosome will
cause the disease.
• The Y chromosome is the other half of the XY gene
pair in the male. However, the Y chromosome
doesn't contain most of the genes of the X
chromosome. Because of that, it doesn't protect
the male. Diseases such as hemophilia and
Duchenne muscular dystrophy occur from a
recessive gene on the X chromosome
 X-Linked Traits

• X-linked inheritance means that the gene causing the trait or

the disorder is located on the X chromosome. Females have
two X chromosomes; males have one X and one Y. Genes on
the X chromosome can be recessive or dominant. Their
expression in females and males is not the same. Genes on
the Y chromosome do not exactly pair up with the genes on
the X chromosome. X-linked recessive genes are expressed in
females only if there are two copies of the gene (one on
each X chromosome). However, for males, there needs to be
only one copy of an X-linked recessive gene in order for the
trait or disorder to be expressed.
• There is a 50 percent chance that
daughters carry the gene and can pass it to the
next generation. There is a 50 percent chance
that a daughter will not carry the gene and,
therefore, cannot pass it on. There is a 50
percent chance that sons do not have the gene
and will be healthy. However, there is a 50
percent chance that a son will have inherited
the gene and will express the trait or disorder
• To determine the inheritance of red-green
colorblindness (or any other X-linked trait),
the genotypes of the parents must be considered.For
example, if a mother is a carrier for colorblindness
(X+Xc), and a father has normal vision X +Y, then their sons
have a 50% chance of colorblindness because they
inherit their X chromosome from their mother and their
Y chromosome from their father. Their daughters will
have a 50% chance of being a carrier (X +Xc) and a 50%
chance of being completely normal (X+X+) (see figure). A
Punnett square can be used to determine any possible
genotypic combinations in the parents.
• The first is that affected fathers cannot pass X-linked recessive
traits to their sons because fathers give Y chromosomes to their
sons. This means that males affected by an X-linked recessive
disorder inherited the responsible X chromosome from their
mothers.
• Second, X-linked recessive traits are more commonly expressed
in males than females.[2] This is due to the fact that males
possess only a single X chromosome, and therefore require only
one mutated X in order to be affected. Women possess two X
chromosomes, and thus must receive two of the mutated
recessive X chromosomes (one from each parent). A popular
example showing this pattern of inheritance is that of the
descendants of Queen Victoria and the blood disease hemophilia
.
 Y linked traits
•  Y linkage, also known as holandric inheritance  describes traits
that are produced by genes located on the Y chromosome. It is a
form of sex linkage.
• Y linkage can be difficult to detect. This is partly because the Y
chromosome is small and contains fewer genes than the 
autosomal chromosomes or the X chromosome. It is estimated to
contain about 200 genes. Earlier, the human Y chromosome was
thought to have little importance;.[2] Although the Y-chromosome
is sex-determining in humans and some other species, not all
genes that play a role in sex determination are Y-linked. The Y-
chromosome, generally does not undergo genetic recombination
 and only small regions called pseudoautosomal regions exhibit
recombination. The majority of the Y-chromosome genes that do
not recombine are located in the "non-recombining region.
• For a trait to be considered Y linkage, it must
exhibit these characteristics:
• occurs only in males
• appears in all sons of males who exhibit that
trait
• is absent from daughters of trait carriers;
instead the daughters that are phenotypically
 normal and do not have affected offspring.
•  Y linkage is similar to, but different from X
linkage; although, both are forms of sex linkage
. X linkage can be genetically linked and sex-
linked, while Y linkage can only be genetically
linked. This is because males' cells have only
one copy of the Y-chromosome. X-
chromosomes have two copies, one from each
parent permitting recombination. The 
X chromosome contains more genes and is
substantially larger.
THANK YOU