Introduction

Human genetics is that branch of science which

deals with the study of hereditary material passing
from one generation to the next.
Derived from gene means to become or to
grow into
It is the science of coming into being

Brief history of genetics
Till the beginning of
seventeenth century the
knowledge of heredity and
reproduction was merely
speculative.
From 1838-1839 the cell
theory was established by
schwann and Schleiden.
Contd.
In 1868, CHARLES DARWIN used
cell theory as the basis to explain the
mechanism of inheritance in theory of
evolution.
AUGUST WEISMANN (1834-1914)
the planner of modern genetics
formulated concept of continuity of
germplasm.


Contd.
Bateson in 1906 was the first to
use the term genetics derived
from greek word gene means
to become.
The term gene was coined by
Johannsen.
Bateson
Father of genetics
Mendel
Gregor Mendel in 1869, did
experiments on garden pea
plant and concluded the
transmission of traits from one
generation to another.
According to Mendel
There are 2 factors responsible for one character, which
are called Genes (units of inheritance)

Contd.
For each gene, there is an alternative form present at
same site of homologous chromosome.
A pair of contrasting genes is called allelic pair or
allelomorph.

Where are genes located?
Each cell has
46 chromosomes
2 meters of DNA
3 billion subunits(the bases:A, T, C, G)
Approximately 25,000 genes

What are Genes????
Genes are the units of inheritance, are located on
the chromosomes of the gametes.
They are passed from parents to progeny through
successive generations after fertilization.
Types of Genes
Dominant
Recessive
Contd.
A gene is a distinct portion
of a cells DNA.
Genes are coded
instructions for making
everything the body needs,
especially proteins.
Human beings have about
25,000 genes.
DNA
DNA (deoxyribonucleic acid) carries
the genetic information in the bodys
cells. DNA is made up of four similar
chemicals (called bases and
abbreviated A, T, C, and G) that are
repeated over and over in pairs.
Structure of DNA

Chromosomes
The term chromosome
was introduced into the
scientific library by
Waldeyer in 1888.
CONTD
Genes are packaged in bundles called chromosomes.
Humans have 23 pairs of chromosomes (for a total of
46).
Of those, 1 pair is the sex chromosomes and the other
22 pairs are autosomal chromosomes (determine the
rest of the bodys makeup).

Contd
Womens chromosomes are described as
46,XX; mens as 46,XY
A mother passes 23 chromosomes to her
child through egg and a father passes 23
chromosomes through sperm
Contd
The chromosomes consist of two very long thin strands
of DNA chains twisted into the shape of a double helix
and are located in the nucleus (the control centre) of
our body cells
The chromosomes are long strands of genes
Human chromosomes
Contd.
Since the chromosomes come in pairs, the genes also
come in pairs
In each of the approximate 25,000 genes there is a piece
of genetic information which guides our growth,
development and health and is in the form of a chemical
code, called the genetic code
Codons & Nucleotides
DNA has 2 polypeptide chains. Each has 4 bases - 2 purines
(adenine,guanine) & 2 pyrimidines (cytosine,thymine/uracil)
A nucleotide consists of one set of sugar + phosphate + one base
Genetic code is read in groups of 3 nucleotides, each representing 1
aminoacid. Each trinucleotide sequence is called codons. (E. g)
UTG CAG CAT



Mendels Laws of
inheritance
LAW OF SEGREGATION
The trait or character is always expressed by a pair of factors or genes
as a unit originally derived one from each parent. Only one member of
this pair of genes is found in the gamete i.e; the two genes always
segregate during meiosis of gametogenesis.
Law of independent assortment and
principle of dominance
Inheritance of one gene of a pair is unaffected by the
inheritance of other gene of same pair. Thus, members of
different alleles assort at random and independent of each
other.
It also states that of the gene pairs only one expresses
itself (dominant) and other does not (recessive).

Structure of chromosomes

Human chromosomes are rod shaped, V shaped or J
shaped or twisted in various spiral or curved shapes
visible only during cell division.

They vary in their length from 4-6 microns and are
shortest during metaphase stage of cell division.

Constituents of chromosomes
Each chromosome is
essentially DNA protein
package.
It consists of:
DNA
RNA
Histone
Acidic proteins
Diagram of chromosomal
structure

Types of chromosomes

Barr Body
It lies near the nucleolus of nuclei in neuron cells only
in females. It is also known as sex chromatid. It
represents one of the two X chromosomes in females.
Genetic terms
PHENOTYPE
An organisms observable characteristics
GENOTYPE
Set of genes an organism inherits
Genes are carried on chromosomes
KARYOTYPE
It is picture showing the arrangement of a full set of chromosomes

References
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