GENETIC TECHNIQUES

the development and application of scientific methods, procedures, and technologies

that permit direct manipulation of genetic material in order to alter the hereditary
traits of a cell, organism, or population. (http://www.dictionary.com/browse/geneticengineering)

INTRODUCTION
BIOLOGY
-

the science of life or living matter in all its forms and phenomena,especially with refe
rence to origin, growth, reproduction, structure, and behavior.

GENETICS
-

The branch of biology that deals with heredity, especially the mechanisms of heredita
rytransmission and the variation of inherited characteristics among similar or related
organisms.

CHROMOSOMES
-

Seats of hereditary factors

CHROMOSOMAL TECHNIQUES these were developed to study the chromosomal basis of

inheritance and relationship between genetic syndromes and chromosomal aberrations.
It is a test that evaluates the number and structures of a persons chromosomes in order to detect
abnormalities.
Joe Hin Tjio and Albert Levan used a hypotonic solution to break open the cell and release the
chromosomes (1956)
Human chromosome number = 46
Down Syndrome
Down syndrome is a genetic disorder caused when abnormal cell division results in extra
genetic material from chromosome 21. This genetic disorder, which varies in severity, causes
lifelong intellectual disability and developmental delays, and in some people it causes health
problems.
Down syndrome is the most common genetic chromosomal disorder and cause of
learning disabilities in children.
Restriction area, ligase

STAINING TECHNIQUES for Nucleic Acids for the visualization of chromosomes

Nucleic Acids essential component of chromosome
Three Main Staining Techniques:
1. Histochemical Strains they selectively bind to certain cellular parts or components
depending on the chemical nature.
2. Stainsbased on antibodies they are highly selective in binding.
3. fasf

Techniques for Chromosome Analysis:

G-banding is the technique used to produce an individual's
karyotype from GHR, for
chromosome analysis. Giemsa stain is used to produce a series of dark and light band, with each
chromosome displaying a unique banding pattern under light microscope. Each chromosome can
be
further
distinguished
by
the
position
of
its
centromere (metacentric, submetacentric, acrocentric from GHR), dividing it into a shorter arm,
the p (petite) arm and a longer arm, called the q arm. Chromosomes are then arranged with pairs
side by side to detect abnormalities including deletions, duplications, or other structural
rearrangements. This technique is relatively inexpensive and is a good first-line test for
individuals with dysmorphic features, growth problems, learning disabilities or multiple
congenital anomalies. One of the major limitations of this technique is the inability to detect
small deletions or rearrangements.
Chromosome analysis has to be performed on dividing cells. Below is the list of the most
common cells used:
1. Peripheral blood lymphocytes.

Clinical Pearl: Because a karyotype is performed on lymphocytes, blood samples can be

obtained from individuals after a leukocyte-poor blood transfusion without interfering with the
test.
2. Amniotic fluid (see prenatal section for further details)
3. Cultured skin fibroblasts
4. Bone marrow cells
Results for routine chromosome analysis are typically available in 2-3 weeks.
Fluorescent In-situ Hybridization (FISH) is a technique which uses a fluorescently-labeled
probe to detect the presence or absence of a particular chromosome segment or gene. This
technique can detect small deletions, duplications and/or subtle chromosomal rearrangements,
however there has to be a suspicion for which chromosomal region or gene might be involved
prior to testing.
FISH analysis can be performed on the same specimens obtained for chromosome analysis. In
critical clinical situations, it can be performed in 24-48 hours to detect numerical chromosome
abnormalities (chromosome 13, 18, 21, see below) or determine the sex of an individual (X or
Y).