HUMAN

KARYOTYPING
 TABLE OF CONTENTS

01 02 03
KARYOTYPE KARYOTYPING CHROMOSOMES

04 05 06
PROCEDURE APPLICATIONS AMNIOCENTESIS
 01
KARYOTYPE
WHAT IS A
KARYOTYPE?
A karyotype is an image of
the set of the full set of
chromosomes of an individual that
displays the normal number, size
and shape.
 02
KARYOTYPING
KARYOTYPING

a laboratory procedure of
examining set of chromosomes
which determines if any of the
chromosomes are missing or
damaged
 03
CHROMOSOMES
HOW TO COUNT CHROMOSOMES?
 The basic number of chromosomes in the
somatic cells of an individual or a species
is called the somatic number and is
designated 2n. In the germ-line (the sex
cells) the chromosome number is n (humans:
n = 23). Thus, in humans 2n = 46.

 So, in normal diploid organisms, autosomal

chromosomes are present in two copies.
There may, or may not, be sex
chromosomes. Polyploid cells have multiple
copies of chromosomes and haploid cells
have single copies.
HAPLOIDS DIPLOIDS
 04
PROCEDURE
 05
APPLICATIONS
APPLICATIONS OF KARYOTYPING

GENDER REVEAL FOR DETECTION OF GENETIC

CONCEIVED INFANTS DEFECTS AND DISEASES
 06
AMNIOCENTESIS
 AMNIOCENTESIS

Amniocentesis is a medical procedure used primarily in prenatal diagnosis of

chromosomal abnormalities and fetal infections, as well as for sex
determination.

 In this procedure, a small amount of amniotic fluid, which contains fetal

tissues, is sampled from the amniotic sac surrounding a developing fetus.

Typically done on a blood sample (any cell in the body can be used.

The cell must be undergoing Mitosis- preferably in metaphase- so that the

chromosomes are replicated, condensed, and visible under microscope.
 AMNIOCENTESIS
&
CHORIONIC VILLUM SAMPLING
 AMNIOCENTESIS
&
CHORIONIC VILLUM SAMPLING
CHORIONIC VILLUM
AMNIOCENTESIS I
SAMPLING

•Able to examine baby’s chromosomes

•Diagnostic(provides yes or no answer)
BENEFITS
•Can be used to test for other genetic
conditions
•Invasive procedure
LIMITATIONS •Risk for miscarriage

TIMING 10-13 weeks 15-22 weeks

MISCARRIAGE RISK 1/100-1/200 1/200- 1/500

GENETIC
ENGINEERING
 WHAT IS
GENETIC
ENGINEERING ?
 It is the direct manipulation of an
organism’s genes using biotechnology.
 New DNA is obtained by either
isolating and copying the genetic
material of interest by using
recombinant DNA methods or by
artificially synthesizing the DNA.
 WHAT IS
RECOMBINANT
DNA?
 When DNA from two different species
are joined together.
 This process uses restriction enzymes to
cleave one organisms DNA into
fragments and other enzymes to splice
the DNA fragment into a plasmid
 PROCEDURE
 A plasmid (ring of DNA) is isolated from a
bacterium
 An enzyme cuts the DNA at specific sites
 A gene for protein, taken from another cell, is
cut with the same enzyme.
 The gene is inserted into the plasmid, where it
fits exactly. This is Recombinant DNA.
 The recombinant plasmid is inserted back into
the bacterium.
 When the bacterium divides and replicates, it
copies itself and the recombinant DNA.
 The new gene directs the bacterium to make
products such as interferon.
 APPLICATIONS

GENE THERAPY AND DNA FINGERPRINTING

MEDICAL APPLICATIONS
VACCINES

CREATION OF GENETICALLY BACTERIA THAT CAN CLEAN

MODIFIED CROPS OIL SPILLS.