Está en la página 1de 35

CHROMOSOMAL BASIS OF

INHERITANCE

ENGR. YVONNE LIGAYA F. MUSICO

LEARNING OBJECTIVES
Distinguish among sex limited, sex influenced, and sex linked
traits.
Explain the chromosomal basis for genetic linkage and
demonstrate how the chromosomal locations of linked genes can
be mapped.
Identify the specific patterns of inheritance that are
characteristic of sex-linked traits.
Know some human diseases or disorders caused by
chromosomal alteration.

ENGR. YVONNE LIGAYA F. MUSICO

TOPICS

Chromosome Theory of Heredity


Gene Dosage and Compensation
Chromosome Mutation
Changes in Chromosome Number
Changes in Chromosome Structure
Chromosomal Alterations in Human
Disease/Disorders
ENGR. YVONNE LIGAYA F. MUSICO

CHROMOSOMES

Threadlike structures within


nucleus.
A very long DNA molecule and
associated proteins, that carry
portions of the hereditary
information of an organism.

ENGR. YVONNE LIGAYA F. MUSICO

Thomas H. Morgan
Defined the relationships between
chromosomes and heredity.
Morgan's first papers dealt with
the demonstration of sex linkage
of the gene for white eyes in the
fly, the male fly being
heterogametic.

ENGR. YVONNE LIGAYA F. MUSICO

The Chromosomes Theory of


Heredity
It says that genes are located on chromosomes.
It is the idea that genes, the units of heredity, are
physical in nature and are found in the chromosomes.
The theory arose at the turn of the twentieth century,
and became one of the cornerstones of the modern
understanding of genetics.

ENGR. YVONNE LIGAYA F. MUSICO

Chromosome Mapping
Lists the sequences of genetic loci along a particular
chromosome .
Mapping is the construction of a series of
chromosome descriptions that depict the position and
spacing of unique, identifiable biochemical
landmarks, including some genes, that occur on the
DNA of chromosomes.

ENGR. YVONNE LIGAYA F. MUSICO

Human Chromosomes
Sex Chromosomes X and Y
chromosomes
Autosomes 22 pairs of
chromosomes except the sex
chromosomes.

ENGR. YVONNE LIGAYA F. MUSICO

Normal Karyotypes

MALE NORMAL KARYOTYPE

FEMALE NORMAL KARYOTYPE

ENGR. YVONNE LIGAYA F. MUSICO

Sex-Limited Inheritance
Inheritance in which a trait or phenotype is expressed in one sex
only
Example:
A man may inherit his beard type from his mother rather
than from his father. Both sexes transmit the genes although
only one sex normally expresses the trait.

ENGR. YVONNE LIGAYA F. MUSICO

10

Sex-Influenced Inheritance
Inheritance that is autosomal but has a different intensity of
expression in the two sexes
Example:
In humans, baldness occurs in males with a single copy or
the allele. A woman will lose her hair only if she is
homozygous for the alleles.

ENGR. YVONNE LIGAYA F. MUSICO

11

Sex-Linked Inheritance
Inheritance that may result from a mutant gene located on
either the X- or Y-chromosome.
Example:
Color Blindness mild disorder
Hemophilia Any of several hereditary bloodcoagulation disorders, manifested almost exclusively in
males, in which the blood fails to clot normally because
of a deficiency oran abnormality of one of the clotting
factors.
ENGR. YVONNE LIGAYA F. MUSICO

12

Gene Dosage Compensation


In mammals, only one X chromosome if fully active
in most diploid cells.
In females, one of the two X chromosomes is
inactivated during embrayonic development.

ENGR. YVONNE LIGAYA F. MUSICO

13

Gene Dosage Compensation


The inactive X chromosome contracts into a dense object,
called a BARR BODY, which lies along the inside of the
nuclear envelope in cells of females.
Most of the genes of the X chromosomes that forms the BARR
BODY are not expressed, although small regions of that
chromosomes remain active.

ENGR. YVONNE LIGAYA F. MUSICO

14

Chromosomes Mutations
Major changes in the chromosomes of a cell may
occur as a result of errors during meiosis, mitosis or
because of Mutagens.
Chromosomes Mutations changes in genetic
material that involve entire chromosomes or pieces of
them.

ENGR. YVONNE LIGAYA F. MUSICO

15

Chromosomes Mutations
Changes in chromosome structure (chromosomal mutations)
are of great importance.
Chromosomal mutations are used as tools in genetic
experiments.
In addition, many human diseases including many types of
cancer are caused by chromosomal rearrangements.

ENGR. YVONNE LIGAYA F. MUSICO

16

CHANGES IN CHROMOSOME
NUMBER

ENGR. YVONNE LIGAYA F. MUSICO

17

Nondisjunction
An accident of meiosis or mitosis in which both
members of a pair of homologous chromosomes or
both sister chromatids fail to separate properly .

ENGR. YVONNE LIGAYA F. MUSICO

18

NONDISJUNCTION

ENGR. YVONNE LIGAYA F. MUSICO

19

Aneuploidy
A chromosomal aberration in which certain chromosomes are
present in extra copies or deficient in number
a. trisomy- cell has an extra chromosome (2N + 1)
b. monosomy- cell is missing a chromosome (2N-1)

ENGR. YVONNE LIGAYA F. MUSICO

20

Polyploidy
When an organism has more than two complete chromosome sets
a. Triploids three complete sets
b. Tetraploids four sets

ENGR. YVONNE LIGAYA F. MUSICO

21

CHANGES IN CHROMOSOME
STRUCTURE

ENGR. YVONNE LIGAYA F. MUSICO

22

Changes in Chromosomes Structure


DELETION - The simple loss of a chromosomal segment

DUPLICATION -The presence of two copies of a chromosomal


region

ENGR. YVONNE LIGAYA F. MUSICO

23

Changes in Chromosomes Structure


INVERSION -A segment of a chromosome can rotate 180 degrees and rejoin the chromosome, resulting in a chromosomal mutation

TRANSLOCATION - two nonhomologous chromosomes can


exchange parts to produce a chromosomal mutation

ENGR. YVONNE LIGAYA F. MUSICO

24

Mechanisms of Change

breakage of a chromosome can lead to a variety of


rearrangements affecting the gene

fragments without centromeres are usually lost when the cell


divides. the chromosome from which the fragment
originated will then be missing certain genes, an alteration
called deletion

in some cases, the fragment may join a homologous


chromosome, producing a duplication

ENGR. YVONNE LIGAYA F. MUSICO

25

Mechanisms of Change

it may reattach to the original chromosome, but in reverse


(called inversion)

it may join a non-homologous chromosome (called


translocation)

a homozygous deletion (or a single X in a male) is usually


lethal

position effect- a gene's expression can be influenced by its


location among neighboring genes

ENGR. YVONNE LIGAYA F. MUSICO

26

CHROMOSOMAL
ALTERTAIONS IN HUMAN
DISEASE/DISORDERS

ENGR. YVONNE LIGAYA F. MUSICO

27

DOWN Syndrome

is the most common serious


birth defect in the US (1:700)
is the result of aneuploidyextra chromosome 21
therefore, each body cell has a
total of 47 chromosomes
the chances of having a DS
child increase with age
(usually due to age of eggs)

ENGR. YVONNE LIGAYA F. MUSICO

28

Patau Syndrome

caused by trisomy for


chromosome 13
characterized by serious
eye, brain, and circulatory
defects, as well as harelip
and cleft palate
occurs one in every 5000
live births

ENGR. YVONNE LIGAYA F. MUSICO

29

Edward Syndrome

trisomy of chromosome 18
affects almost every organ
system in the body
one in 10000
most victims survive in less
than a year

ENGR. YVONNE LIGAYA F. MUSICO

30

Klinefelter Syndrome

an extra X chromosome in a
male (XXY)
one in every 2000 births
have abnormally small testes
and is sterile
can lead to breast
enlargement and other
feminine body contours.
the affected individual is
usually of normal
intelligence.

ENGR. YVONNE LIGAYA F. MUSICO

31

Turner Syndrome

monosomy- female is XO
is the only known viable human
monosomy
individuals with this syndrome
are phenotypically female but
their sex organs do not mature at
adolescence, and secondary
sexual characteristics fail to
develop.
they are sterile and short but
usually have no mental
deficiency.
Source:

ENGR. YVONNE LIGAYA F. MUSICO

http://www.turner-syndrome-us.org/resource/faq.html

32

Metafemales
females with three X
chromosomes
they have limited fertility and
may be mentally retarded.

ENGR. YVONNE LIGAYA F. MUSICO

33

Cri Du Chat (Cry of the Cat)


Syndrome
A human disorder caused by
specific deletion in chromosome 5.
An individual with this syndrome is
mentally retarded and has a small
head with unusual facial features
and a cry that sounds like the
mewing of a distressed cat.
Death usually occurs in infancy or
early childhood.
ENGR. YVONNE LIGAYA F. MUSICO

34

THANKS FOR LISTENING.

ENGR. YVONNE LIGAYA F. MUSICO

35