This document discusses genes that have more than two alleles (poly-allelic genes). It provides examples of poly-allelic genes, including the ABO blood type gene, which has three alleles that produce the A, B, and O antigens. The document explains that poly-allelic genes can generate more genotypes than di-allelic genes. It also discusses X-linked inheritance and provides Drosophila eye color as an example, noting that X-linked traits are observed disproportionately in males.
Chromosomal Basis of Inheritance
Be familiar with patterns of inheritance for autosomal and sex linked genes
Understand the concept of “Linked Genes”
Understand how traits affected by incomplete dominance and codominance differ from autosomal dominant and autosomal recessive traits
Understand how nondisjunction of chromosomes can lead to disorders.
Linked genes: are those that reside on the same chromosome and tend to be inherited together
Humans have 23 pairs of chromosomes
Autosomal genes reside on the autosomal chromosomes (pairs 1-22)
Sex-linked genes are found on the sex chromosomes
(pair 23, usually on the X)
Autosomal genes are usually represented by a pair of alleles
The phenotype of the gene reflects the dominant or recessive relationship of the alleles.
Most autosomal genetic diseases are autosomal recessive meaning the individual need to be homozygous recessive to exhibit the condition
(example: cystic fibrosis) Production of abnormmaly thick mucus. Leading to the blockage of panreatic duct, intestines and respiratory infection.
Huntington’s disease is an autosomal dominant disorder meaning that is a single Huntingtons allele is inherited, the individual will have the disease.
Some alleles do not show a dominance hierarchy
Incomplete dominance: the phenotype of a heterozygous genotype is intermediate in appearance
Codominance: each allele in the genotype for a particular gene will be expressed in the phenotype
Males and females differ in their sex chromosome combination
(females XX; males XY)
Because the X contains genes and the Y “does not”, inheritance patterns of sex-linked genes vary between the sexes
recessive traits more prevalent in males
Genetic disorders can also occur due to errors in the number of inherited chromosomes
This condition arises through a problem that occurs during meiosis
Although female mammals, including humans, inherit two X chromosomes, one X chromosome in each cell becomes almost completely inactivated during embryonic development.
Barr body
Nondisjunction:
Leads to aneuploidy:
Aneuploidy: is the condition of having less than or more than the normal diploid number of chromosomes, and is the most frequently observed type of cytogenetic abnormality.
Mendelian inheritance has its physical basis in the behavior of chromosomes during sexual life cycles.
Morgan traced a gene to a specific chromosome.
Sex-linked genes have unique patterns of inheritance.
Alterations of chromosome numbers or structure cause some genetic disorders.
Linked genes tend to be inherited together because they are located on the same chromosome.
Independent assortment of chromosomes and crossing over produce genetic variation (recombinants)
Geneticists can use recombination data to map a chromosomes genetic loci.
Chromosomal basis for sex is dependent upon the organism.
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
Chromosomal Basis of Inheritance
Be familiar with patterns of inheritance for autosomal and sex linked genes
Understand the concept of “Linked Genes”
Understand how traits affected by incomplete dominance and codominance differ from autosomal dominant and autosomal recessive traits
Understand how nondisjunction of chromosomes can lead to disorders.
Linked genes: are those that reside on the same chromosome and tend to be inherited together
Humans have 23 pairs of chromosomes
Autosomal genes reside on the autosomal chromosomes (pairs 1-22)
Sex-linked genes are found on the sex chromosomes
(pair 23, usually on the X)
Autosomal genes are usually represented by a pair of alleles
The phenotype of the gene reflects the dominant or recessive relationship of the alleles.
Most autosomal genetic diseases are autosomal recessive meaning the individual need to be homozygous recessive to exhibit the condition
(example: cystic fibrosis) Production of abnormmaly thick mucus. Leading to the blockage of panreatic duct, intestines and respiratory infection.
Huntington’s disease is an autosomal dominant disorder meaning that is a single Huntingtons allele is inherited, the individual will have the disease.
Some alleles do not show a dominance hierarchy
Incomplete dominance: the phenotype of a heterozygous genotype is intermediate in appearance
Codominance: each allele in the genotype for a particular gene will be expressed in the phenotype
Males and females differ in their sex chromosome combination
(females XX; males XY)
Because the X contains genes and the Y “does not”, inheritance patterns of sex-linked genes vary between the sexes
recessive traits more prevalent in males
Genetic disorders can also occur due to errors in the number of inherited chromosomes
This condition arises through a problem that occurs during meiosis
Although female mammals, including humans, inherit two X chromosomes, one X chromosome in each cell becomes almost completely inactivated during embryonic development.
Barr body
Nondisjunction:
Leads to aneuploidy:
Aneuploidy: is the condition of having less than or more than the normal diploid number of chromosomes, and is the most frequently observed type of cytogenetic abnormality.
Mendelian inheritance has its physical basis in the behavior of chromosomes during sexual life cycles.
Morgan traced a gene to a specific chromosome.
Sex-linked genes have unique patterns of inheritance.
Alterations of chromosome numbers or structure cause some genetic disorders.
Linked genes tend to be inherited together because they are located on the same chromosome.
Independent assortment of chromosomes and crossing over produce genetic variation (recombinants)
Geneticists can use recombination data to map a chromosomes genetic loci.
Chromosomal basis for sex is dependent upon the organism.
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
Sex-determination and Sex-linked Inheritance.pptxSeemaGaikwad15
The sexually reproducing organisms are classified into two types such as monoecious (hermaphrodite) and dioecious. In monoecious organisms, both male and female gametes (sex cells) are produced by a single individual. The organisms in which both male and female gametes are produced by different individuals are called dioecious. Living organisms, with a very few exceptions, are differentiated into male and female individuals. The sexes of the individuals are genetically determined.
The biological system that determines the development of sexual characteristics in an organism is called sex determination.
There are two different systems of sex determination- Chromosomal sex determination and Non-genetic sex determination.
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3. Genes and their alleles
•About 30% of the genes in
humans are di-allelic
They exist in two forms,
(they have two alleles)
4. Genes and their alleles
•About 70% are mono-
allelic, they only exist in
one form and they show no
variation
•A few are poly-allelic
having more than two
forms.
6. Combinations
•Genes with 4 alleles can
generate 10 genotypes
(4+3+2+1)
•Genes with 8 alleles can
generate 36 genotypes.
7. Genes and the immune
system
•Poly-allelic genes
associated with tissue
types
•Genes so varied they
provide us with our genetic
finger print
8. Genes and the immune
system
•Important for our immune
system
•self and non-self.
9. The ABO blood system
•Controlled by a tri-allelic
gene
•6 genotypes
10. The ABO blood system
•The alleles for antigens
on the surface of the red
blood cells
•Two of the alleles are
codominant to one
another and both are
dominant over the third
11. The ABO blood system
•Allele IA produces antigen
A
•Allele IB produces antigen
B
•Allele i produces no
antigen.
12. The ABO blood system
Genotypes Phenotypes
IA IA A
IA IB AB
IAi A
13. The ABO blood system
Genotypes Phenotypes
IB IB B
IBi B
ii O
33. Homologous chromo-
somes have the same
genes arranged in the
same order. So for all of
the genes on the auto-
somes, both males and
females have two copies.
34. A female’s two X
chromosomes also have
the same genes arranged
in the same order. So
females have two copies
of every gene, including
the genes on sex
chromosomes.
35. The X &Y chromosomes,
however, have different
genes. So, for the genes
on the sex chromosomes,
males have just one copy.
36. The Y chromosome has
few genes, but the X
chromosome has more
than 1,000. Well-known
examples in people include
genes that control color
blindness and male pattern
baldness. (sex-linked)
46. X-Linked Traits
Insects also follow an XY
sex-determination pattern
and like humans,
Drosophila males have an
XY chromosome pair and
females are XX.
47. Eye color in Drosophila
was one of the first X-
linked traits to be
identified, and Thomas
Hunt Morgan mapped this
trait to the X chromosome
in 1910.
48. In fruit flies, the wild-type
eye color is red (XW) and is
dominant to white eye
color (Xw).
49.
50. Because this eye-color
gene is located on the X
chromosome only,
reciprocal crosses do not
produce the same offspring
ratios.
51. Males are said to be
hemizygous, because they
have only one allele for
any X-linked characteristic.
53. Drosophila males lack a
second allele copy on the Y
chromosome; their
genotype can only be XWY
or XwY. In contrast, females
have two allele copies of
this gene and can be
XWXW, XWXw, or XwXw.
56. Sex-linkage studies
provided the fundamentals
for understanding X-linked
recessive disorders in
humans, which include
red-green color blindness
and Types A and B
hemophilia.
57. Because human males
need to inherit only one
recessive mutant X allele
to be affected, X-linked
disorders are
disproportionately
observed in males.
60. Recessive Carriers
When they inherit one
recessive X-linked mutant
allele and one dominant
X-linked wild-type allele,
they are carriers of the
trait and are typically
unaffected.
61. Carrier females can
manifest mild forms of the
trait due to the inactivation
of the dominant allele
located on one of the X
chromosomes.
62. However, female carriers
can contribute the trait to
their sons, resulting in the
son exhibiting the trait, or
they can contribute the
recessive allele to their
daughters.
63.
64.
65.
66. Y linkage, also known
as sex linkage, or
Holandric Inheritance,
describes traits that are
produced by genes
located on the Y
chromosome.
67. 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
68. is absent from
daughters of trait
carriers; instead the
daughters that
are phenotypically
normal and do not have
affected offspring.