Maternal effects are the influences of a mothers genotype on the phenotype of her offspring. It results from the asymmetric contribution of the female parent to the development of zygotes.
In terms of chromosomal genes, both male and female parents contribute equally to the zygote. The female parent contributes to the zygotes initial cytoplasm and organelles. Sperm rarely contribute anything other than chromosomes. Therefore zygotic development begins within a maternal medium and hence the maternal cytoplasm directly affects zygotic development.
Maternal effects are the influences of a mothers genotype on the phenotype of her offspring. It results from the asymmetric contribution of the female parent to the development of zygotes.
In terms of chromosomal genes, both male and female parents contribute equally to the zygote. The female parent contributes to the zygotes initial cytoplasm and organelles. Sperm rarely contribute anything other than chromosomes. Therefore zygotic development begins within a maternal medium and hence the maternal cytoplasm directly affects zygotic development.
This presentation intends to explore the sex-linked characters along with some fatal diseases of human beings, their cause, consequences and other issues.
Concept of Sex chromosomes and autosomes,
Inheritance of X- linked genes – eye colour in Drosophila,
Inheritance of colour blindness in humans,
Inheritance of Y-linked Genes -Holandric genes in humans,
Sex influenced genes – baldness in humans
Sex-limited genes - feathering in domestic fowl
Hemophilia is a recessive trait. The dominant trait is normal blood d.pdfarihanthtoysandgifts
Hemophilia is a recessive trait. The dominant trait is normal blood dotting A gene that can cause
hemophilia is located on the X chromosome. If a homozygous normal female marries a normal
male, they children might have which of the following phenotypes: Select one: a. normal
females, hemophiliac females, and hemophiliac males. b. normal females, hemophiliac females,
normal males, and hemophiliac males. c. normal females and hemophiliac males d. normal
females and normal mates. e. normal females, normal males or hemophiliac males.
Solution
In X - linked recessive inheritance males are more prone to disease because they carry the
disease trait. If the affected offspring’s mother has brother or father containing the same trait
then the mother pass the trait to her offspring. The affected males produce unaffected daughters
who can produce 50% affected sons. Hemophilia is the example of X - linked recessive trait.
When a homozygous normal female marries to a normal male the offspring produced are normal
females and normal males. Option d is correct..
Consider the following pedigree, which traces the inheritance of a si.pdfdeepaarora22
Consider the following pedigree, which traces the inheritance of a single-gene hereditary
disease. Only individuals that are either affected or normal are shown. In other words, potential
heterozygotes are NOT indicated. Characterize each of the following modes of inheritance as:
impossible, unlikely, or probable. Justify your answers. Autosomal dominant Autosomal
recessive X-linked dominant X-Iinked recessive Y linked
Solution
Single gene herediary diseases are mainly caused by a change of any one gene in a particular
DNA.Its divided into diiferemt categories like dominant ,recessive and X linked.Square indicates
a male and circle female.According to the diagram affected male is crossed with an unaffected
female.The progeny obtained is affected daughters and unaffected sons.
Autosomal dominant: in this case, the father — has a 50 percent chance of having an affected
child with one mutated gene (dominant gene) and a 50 percent chance of having an unaffected
child with two normal genes (recessive genes).But, in our case none of the sons are affected
which means its criss cross inheritance that is from father to daughter.Hence , this case is
unlikely
Autosomal recessive:To have an autosomal recessive disorder, you inherit two mutated genes,
one from each parent. These disorders are usually passed on by two carriers.The cross given in
the question is not between the two carriers.The male parent is affected for sure hence this case is
impossible
X linked dominant:As in autosomal dominant inheritance, only one copy of a disease allele on
the X chromosome is required for an individual to be susceptible to an X-linked dominant
disease.Both males and females can be affected, although males may be more severely affected
because they only carry one copy of genes found on the X chromosome. Some X-linked
dominant disorders are lethal in males.When a female is affected, each pregnancy will have a
one in two (50%) chance for the offspring to inherit the disease allele. When a male is affected,
all his daughters will be affected, but none of his sons will be affected.So, there are probable
chance for this type of inheritance
X linked recessive:For X-linked recessive disorders, an affected father who has a mutation in a
gene on the X chromosome can transmit either the X chromosome with this mutation or a Y
chromosome to his children. If the mother is not affected or a carrier, none of his sons will be
affected since they can only inherit a normal X chromosome from their mother and they inherit a
Y chromosome from their father. Each daughter will have a 50% chance of being an unaffected
carrier and a 50% chance of both X chromosomes being normal.In our cross all daughters are
affected which means this type of inheritance is impossible
Y linked:This type of inheritance is impossible in this case as all female children are getting
affected.If it would have been Y linked then only sons should have been affected as Y
chromosome is present only in males.Hence this.
In Caenorhabditis elegans the two sexual phenotypes that occur are m.pdfankurelectronicsg3
In Caenorhabditis elegans the two sexual phenotypes that occur are males and hermaphrodites.
Males have testes and the hermaphrodites have both testes and ovaries.
They have only one type of sex chromosomes - X and have autosomes.
Sexes are determined by the ratio of sex chromosomes to autosomes. X chromosomes:autosomes
XX/AA = 1 hermaphrodite ; XO/AA =0.5 males
There are two sexes in mammals - males and female. In mammals, Y chromosome is used for
sex determination. Y chromosomes confer maleness as it has a gene responsible for testes
development of gonads. In its absence the gonads develop into ovaries conferring femaleness.
XX female; XY male
In birds, there are two sexes males and females. Here W chromosome confers femaleness.
ZZ - male; ZW - female.
2.
Reciprocal cross - the cross in which the phenotype of parents are reversed from the previous
original cross.
AA (male) x aa (female) - Original cross
aa(male) x AA(female) - Reciprocal cross
Significance of reciprocal cross - to find out the role of parental sex on pattern of inheritence.
Solution
In Caenorhabditis elegans the two sexual phenotypes that occur are males and hermaphrodites.
Males have testes and the hermaphrodites have both testes and ovaries.
They have only one type of sex chromosomes - X and have autosomes.
Sexes are determined by the ratio of sex chromosomes to autosomes. X chromosomes:autosomes
XX/AA = 1 hermaphrodite ; XO/AA =0.5 males
There are two sexes in mammals - males and female. In mammals, Y chromosome is used for
sex determination. Y chromosomes confer maleness as it has a gene responsible for testes
development of gonads. In its absence the gonads develop into ovaries conferring femaleness.
XX female; XY male
In birds, there are two sexes males and females. Here W chromosome confers femaleness.
ZZ - male; ZW - female.
2.
Reciprocal cross - the cross in which the phenotype of parents are reversed from the previous
original cross.
AA (male) x aa (female) - Original cross
aa(male) x AA(female) - Reciprocal cross
Significance of reciprocal cross - to find out the role of parental sex on pattern of inheritence..
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2. INTRODUCTION
Reproduction is the production
of alike offsprings by parents. Sexual
reproduction include fusion of
haploid male and female gametes to
form zygote. The chromosomes in the
gametes transfer parental characters
into offspring, this is called as
inheritance.
3. SEXES IN HUMAN
MALE – Heterogametic and have testes
and produce sperms.
FEMALE – Homogametic and have
ovary and produce ovum.
TRANSGENDER – Generally sterile and
may have testes / ovary as primary sex
organs.
As Transgenders are sterile, only
male and female are considered
for inheritance
4. CHROMOSOMES IN HUMAN
AUTOSOMES – These are 22
homologous pairs of chromosomes
numbered from 1 to 22 and 24 to 45. They
bear genes for somatic or body
characters.
ALLOSOMES / SEX CHROMOSOMES
– These are one pair of chromosomes
numbered 23 and 46. They bear genes for
sex determination and also some somatic
genes. They may be of two types :- X and
Y. Y chromosome is J-shaped.
5. ALLELES OF A GENE
Each gene is located at a fixed position on
a chromosome, called LOCUS / LOCI.
Each gene has two alleles, either both
dominant or both recessive (cis
arrangement) and one dominant and
other recessive (trans arrangement).
The two alleles are located at same locus,
one on each of homologous pair of
chromosomes.
As Y chromosome is curved, so X and Y
have some different types of genes.
6. ALLELES OF A GENE
Out of two alleles
Dominant allele :- This is the allele which
is expressed in both homozygotic and
heterozygotic conditions.
Recessive allele :- This is the allele, which
is expressed only in heterozygous
condition.
Homozygous Condition :- If both the
alleles are dominant or both recessive.
Heterozygous Condition :- If one of the
alleles is dominant or and other is
recessive.
7. INHERITANCE BY ALLOSOMES
Generally, X and Y chromosomes
contains genes for sex determination,
but also contain some somatic / body
genes.
Definition :- The inheritance of somatic
genes located on sex chromosomes by
them is called as sex linked inheritance.
Inheritance :- It is the transfer of
parental characters or genes by
chromosomes into offspring(s).
8. TYPES OF INHERITANCE BY ALLOSOMES
X – linked / Sex linked / Recessive
inheritance :- Genes on X chromosomes
are called as X – linked / Sex linked /
Recessive genes and their inheritance is
called so. e.g. sickle cell anaemia,
haemophilia, red – green colour
blindness etc.
Y – linked / Holandric inheritance :-
Genes on Y chromosome are called as Y
– linked / Holandric genes and their
9. TYPES OF INHERITANCE BY ALLOSOMES
inheritance is called as Y – linked /
Holandric inheritance. e.g. patterned
baldness, hypertrychosis.
Incomplete sex linked inheritance :-
Genes on both X and Y chromosomes
are called as Incomplete sex linked
genes and their inheritance is called as
Incomplete sex linked inheritance.
10. TYPES AND DOMINANT OF ALLOSOMES
Normal X chromosome :- Contain
normal allele of gene under study.
Affected X chromosome :- Contain
affected or mutant allele of gene under
study.
Normal Y chromosome :- Not contain
any allele of gene under study.
ORDER OF DOMINANCE ( Y > X > Xa)
Y is dominant to Normal and Affected X
Normal X is dominant to Affected X
11. CHARACTERS OF SEX LINKED INHERITANCE
This is inheritance of somatic genes by X
chromosomes.
As it is recessive to Y, it is also called as
recessive inheritance. But in case of males
it is expressed as Y lacks the
complementary genes for the said
inheritance.
Normal X is dominant to affected X.
X chromosome is inherited from father to
daughter to grandson, so it is called cris-
cross inheritance.
13. CHARACTERS OF SEX LINKED INHERITANCE
If female contain two affected X
chromosomes, effect is expressed and she
is called as a victim.
If female contains one normal X and one
affected X, effect is not expressed but
hidden or she is normal in phenotype but
has a tendency to inherit the same to her
son so she is called as a carrier.
Male containing affected X, express the
effect as it has only one X and Y lacks
body genes.
14. EXAMPLES OF SEX LINKED INHERITANCE
Red – green colour blindness :- The victim
of this disease is unable to distinguish
between red and green colours at low
resolution.
Haemophilia / Bleeder’s Disease :- In the
victim of this disease, automatic blood
clotting is impossible due to absence of
Antihaemophilic Factor A, necessary for
blood clotting. So any injury, cut or
menstruation cause severe bleeding and
may lead to death.
15. EXAMPLES OF SEX LINKED INHERITANCE
The genes of above two diseases are
located on X chromosome.
Victim :- a diseased individual.
Normal :- a normal individual.
Carrier :- as these are recessive
inheritance, in case of female having one
normal and one affected X chromosomes,
normal X is expressed. So she is normal in
phenotype but probable to inherit the
affected X to offsprings resulting in victim
sons and victim or carrier daughters.
17. CASE STUDIES – COLOUR BLINDNESS
S. N. FATHER MOTHER
1 NORMAL X Y NORMAL X X
2 NORMAL X Y VICTIM XC XC
3 NORMAL X Y CARRIER X XC
4 VICTIM XC Y NORMAL X X
5 VICTIM XC Y VICTIM XC XC
6 VICTIM XC Y CARRIER X XC
18. RESULT OF F1– COLOUR BLINDNESS
S. N. FATHER MOTHER F1 PHENOTYPE
1 NORMAL NORMAL ALL NORMAL
2 NORMAL VICTIM S – VICTIM, D - CARRIER
3 NORMAL CARRIER
S – NORMAL / VICTIM
D – NORMAL / CARRIER
4 VICTIM NORMAL S – NORMAL, D – CARRIER
5 VICTIM VICTIM ALL VICTIM
6 VICTIM CARRIER
S – NORMAL
D – CARRIER / VICTIM
** S = SON, D = DAUGHTER
19. CASE STUDIES – HAEMOPHILIA
S. N. FATHER MOTHER
1 NORMAL X Y NORMAL X X
2 NORMAL X Y CARRIER X Xh
3 VICTIM Xh Y NORMAL X X
4 VICTIM Xh Y CARRIER X Xh
IN HAEMOPHILIA :- VICTIM MOTHER CAN NOT BE
TAKEN AS SHE WILL DIE AT HER FIRST
MENSTRUATION DUE TO SEVERE BLEEDING.
20. RESULT OF F1– HAEMOPHILIA
S. N. FATHER MOTHER F1 PHENOTYPE
1 NORMAL NORMAL ALL NORMAL
2 NORMAL CARRIER
S – NORMAL / VICTIM
D – NORMAL / CARRIER
3 VICTIM NORMAL S – NORMAL, D – CARRIER
4 VICTIM CARRIER
S – NORMAL
D – CARRIER / VICTIM
** S = SON, D = DAUGHTER
BOTH FATHER & MOTHER NORMAL CASES SHOULD
BE AVIDED TO DESCRIBE DISEASE INHERITANCE.
21. VICTIM FATHER CARRIER MOTHER
PARENTS
GAMETES
F 1 GENERATION
1 X XC
2 XC XC
3 X Y 4 XC Y
XC
Y
1 – CARRIER DAUGHTER
2 – VICTIM DAUGHTER
3 – NORMAL SON
4 – VICTIM SON
X
XC
22. CONCLUSION
In above crosses I have described that, the
probable phenotype and genotype of offspring (son /
daughter) may be told. Here percentage should not
be used as we are telling the type of offspring going to
be born during the study.
In above case study with victim father and
carrier mother, one daughter was victim and one was
carrier and one son was normal and other victim. It
does not mean that 50% of daughter will be carrier
and 50% will be victim or 50% of sons normal and
50% son victim rather it means the offspring going to
be born may have any one of the possible genotype
and phenotype depending on its sex.