Human Genetics 4th semester

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2. Human Genetics
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3. History
• The knowledge of genetics
is the modern one and
starts from the work of
Mendel.
• Most of the work in
genetics is made in 19th
Century.
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4. What is a cell?
Cells are the basic building blocks of all
living things. The human body is
composed of trillions of cells. They
provide structure for the body, take in
nutrients from food, convert those
nutrients into energy, and carry out
specialized functions. Cells also contain
the body’s hereditary material and can
make copies of themselves.
Cells have many parts, each with a
different function. Some of these parts,
called organelles, are specialized
structures that perform certain tasks
within the cell. Human cells contain the
following major parts, listed in
alphabetical order:
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6. Cell Organelles
• Within the cytoplasm, the major
organelles and cellular structures
include:
(1)nucleolus (2) nucleus (3) ribosome (
4) vesicle (5) rough endoplasmic
reticulum(6) Golgi
apparatus (7) cytoskeleton (8)
smooth endoplasmic
reticulum (9)mitochondria (10) vacuol
e (11) cytosol (12) lysosome (13)
centriole.
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8. Plant Cell vs. Animal Cell
• Plant and animal cells have several differences and similarities. For
example, animal cells do not have a cell wall or chloroplasts but plant
cells do. Animal cells are mostly round and irregular in shape while
plant cells have fixed, rectangular shapes.
• Plant and animal cells are both eukaryotic cells, so they have several
features in common, such as the presence of a cell membrane, and
cell organelles, like the nucleus, mitochondria and endoplasmic
reticulum.
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11. Why
RBC don't have
organelles?
• Because of the lack of nuclei
and organelles, mature red blood cells
do not contain DNA and cannot
synthesize any RNA, and consequently
cannot divide and have limited repair
capabilities. The inability to carry out
protein synthesis means that no virus
can evolve to target mammalian red
blood cells.
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12. Importance of genetics
The agrictuaral ,animal
Husbandry ,poultry
,medicine etc
The science of genetics
has proved worthy in
removing many faulty
concepts of man about
inheritance.
Genetics is also trying
to remove the faulty
gene and introducing
gene of choice in
human and plant .
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13. Human Genetic
Children of The same parents resemble
with each other.
Some characteristics do not
share with each other.
To study various phenomena which are
involved in deciding the patterns of
inheritance.
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14. Human
genetics
• Human genetics is the study of
inheritance as it occurs in human
beings. Human genetics encompasses a
variety of overlapping fields including:
• Cytogenetics,
• Molecular genetics,
• Biochemical genetics,
• Genomics,
• Population genetics
• Developmental genetics,
• Clinical genetics,
• and Genetic counseling.
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16. Cytogenetics
• Cytogenetics is a branch of genetics that is
concerned with how
the chromosomes relate to cell behavior,
particularly to their behavior
during mitosis and meiosis.
• Techniques used include karyotyping,
analysis of G -banded chromosomes, other
cytogenetic banding techniques, as well
as molecular cytogenetics such
as fluorescent in situ hybridization (FISH)
and comparative genomic
hybridization (CGH)
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17. Biochemical genetics
• Biochemical genetics involves
diagnosing and treating metabolic
diseases. These are problems with
how the body makes, breaks down
or uses proteins, fats or
carbohydrates. They are caused by
genes that are not normal and
cannot make the enzymes the body
needs. (Enzymes are found in the
blood, organs, saliva and other
parts of the body. They are
important to all bodily functions.)
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18. Biochemical Genetic Testing.
• Biochemical genetic testing is the
study of enzymes or proteins in the
body that may be unusual in some
way. These proteins or enzymes may
work differently and lead to things
such as birth defects in children.
These types of problems are usually
called "inborn errors of
metabolism."
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19. Biochemical genetics
• Biochemical genetics involves
diagnosing and treating metabolic
diseases. These are problems with
how the body makes, breaks down
or uses proteins, fats or
carbohydrates. They are caused by
genes that are not normal and
cannot make the enzymes the body
needs. (Enzymes are found in the
blood, organs, saliva and other
parts of the body. They are
important to all bodily functions.)
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20. Molecular
genetics
• Molecular genetics is the field of
biology that studies the structure
and function of genes at
a molecular level and thus employs
methods of both molecular biology
and genetics. The study of
chromosomes and gene expression
of an organism can give insight into
heredity, genetic variation, and
mutations.
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21. Genomics
• Genomics is the study of whole
genomes of organisms, and
incorporates elements from
genetics.
• Genomics uses a combination of
recombinant DNA, DNA sequencing
methods, and bioinformatics to
sequence, assemble, and analyze
the structure and function of
genomes
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22. Population genetics
• Population genetics is a subfield
of genetics that deals with genetic
differences within and
between populations, and is a part
of evolutionary biology. Studies in this
branch of biology examine such phenomena
as adaptation, speciation, and population
structure.
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23. Developmental
genetics
• Developmental genetics is the study of how
genes control the growth and development of
an organism throughout its life-cycle.
• The function of genes is to pass on the
information necessary to build proteins - and
bodies - from one generation to the next. A
newly fertilized egg cell has a collection of
genes that contains all information needed to
transform it from a single cell into an embryo
and then an adult. The process that changes a
single cell into a new person (or a new frog, or
a new oak tree) is called development.
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24. Developmental
genetics
• During the course of development, complex
structures develop from simple ones. A single
cell transforms itself into an adult organism.
How does something complicated come from
something simple? And how do genes control
this process?
• Creating an organism from a single cell involves
three important processes:
• Cell division: cells divide to produce more cells.
• Cell differentiation: cells change into different
types of cell to do specific jobs in the body,
from nerve cells to muscle cells.
• Morphogenesis: groups of cells move and
change their shape to produce the structure of
the organism.
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25. Medical genetics :
• Medical genetics is the branch
of medicine that involves the diagnosis and
management of hereditary disorders.
Medical genetics is the application of
genetics to medical care. It overlaps human
genetics, for example, research on the
causes and inheritance of genetic
disorders would be considered within both
human genetics and medical genetics, while
the diagnosis, management, and counseling
of individuals with genetic disorders would
be considered part of medical genetics.
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26. Clinical
Genetics
• Clinical Genetics is the medical
specialty which provides a diagnostic
service and "genetic counselling" for
individuals or families with, or at risk
of, conditions which may have
a genetic basis. Genetic disorders can
affect any body system and any age
group.
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27. Genetic counseling
• Genetic counseling is the process
of advising individuals and families
affected by or at risk of genetic
disorders to help them understand
and adapt to the medical,
psychological and familial
implications of genetic
contributions to disease.
•
• The process integrates:
• Interpretation of family and
medical histories to assess the
chance of disease occurrence or
recurrence
• Education about inheritance,
testing, management, prevention,
resources
• Counseling to promote informed
choices and adaptation to the risk
or condition.
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