Chromosomes, Mutations, and Other

Terminology

7/12/2019 1
 Genetic component is found in every human trait
and diseases. Some are inherited or influenced by
behavioural factors such as exercise. The body’s
defence to environmental factors such as toxins
may be modified by genetic components.
Understanding the underlying concepts of human
genetics and role of genes, behaviour and
environment important for appropriately
collecting and applying genomic intermission and
technologies during clinical care to improve
disease diagnosis and treatment as well.
 Genetic diseases ma be categorize into three
major groups: single-gene, chromosomal,
multifactorial.
 Many, if not, most diseases are caused or
influenced by genetics. Genes through
 the proteins they encode, determine how
effectively toxins are detoxified and how
vigorously infections are targeted.
 Change in the DNA sequence of single genes
also known as mutations, causes thousands
of diseases. A gene can mutate in any ways
resulting an altered protein product that is
unable to perform its normal functions. Most
common gene mutation involves a change or
“misspelling”in a single base in the DNA
 Other mutation includes the loss (deletion) or gin
(duplication or insertion of a single multiple
base(s)
 The altered product may still retain some normal
functions but at reduced capacity. The protein
may be totally disabled by the mutation or gain
an entirely new but damaging function. The
outcome depends not only how it alters a protein
function but also how vital that particular protein
is to its survival. Other mutations called
Polymorphism are natural variation In DNA
sequence that have no adverse effects and are
simply differences among individuals.
In addition to mutations in single-genes genetic
disease can be caused by large mutations in
chromosome .
Chromosomal abnormalities may result from either
the total number of chromosomes differing
from the usual amount
of the physical structure of a chromosome
different from the usual stucture. The most
common type of chromosomal abnormality is
known as Aneuploidy . An abnormal number of
chromosomes due to an extra or missing
chromosomes.
 A usual karyotype (complete chrosomes
)contains 46 Chromosomes including XX
(female) or an XY (male) sex chromosome
pair. Strucural chromosomal abnormalities
include deletions, duplications,insertions or
translocation of chromsomal segment.
 Multifactoral disease caused by a complex
combination of genetics behavioral and
environmental factors in Spina bifida,
Diabetes and Heart diseases.
 Although multifactorial diseases can recur in
families. Some mutations such as cancer can
be aquired thru individuals lifetime. All genes
work in the context of environment and
behavior. Alterations of behavior or the
environment such as diet, exercise or
exposure to toxic agents or medications can
influence genetic traits