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The concept of genetics is not new to
Atulya gotreeya stree purusha,
Asanchaari Roga kula jaata stree.
Ayurveda describes the anatomical aspect of
Bheeja bhaaga avayava.
Classification of vyadhi.
Definition- Study of gene or Study of
Heredity & its Variations.
Gene – Gennan (Gre) = to produce.
Unit of inheritance carried on
chromosomes & controlling expressions of
a character chemically it is made of DNA.
DNA – Genetic code
Specific sequences of DNA – Genes.
Chroma - Colour ; Soma – Body .
Linear thread of DNA.
Genes arranged in a linear thread
In Humans :
Diploid number is 46 ( 23 pairs)
22 pairs- Autosomes ;
A pair of Sex chromosomes ( XX or XY)
Gamete formation : -
46 ( 23 pairs) 23 (Haploid)
Ovum 23 Sperm 23
Random union determines the Sex.
CONCEPT OF GENE
• Number of chromosome is small &number
of gene is large. It is expected that each
chromosome bears a large number of
genes. The 46 chromosome of humans are
supposed to carry about 40,000 genes.
Genes occupy specific potions on the
• A gene may be found in two or more forms
or functional states, All modifications of
original gene considered to be its alleles
the alleles occupy the same position on the
two homologous chromosome.
• If there are 2 alleles of a gene, one
may behave as the dominant & other
• Genes are able to make exact copies
or replicas themselves. Replication
distributes copies of genes to the
daughter cells during divisions.
Transmits characters from parents to
Definition: A genetic disorder is a
disease caused by abnormalities in
genes or chromosome.
Mutation: “A state of heritable alteration
Etiology: Largely Unknown
Environmental factors, Radiation, Viruses
• Diseases caused by changes in gene
mutation in the nucleotide sequence that
effect the phenotype.
• The mutation may vary. A mutation may
completely halt the production of protein
synthesis or decrease or alter the protein
structure in such way that it is unable to
carryout its function.
• Mutation may occur in all cells of body or in
some cells causing an autosomal gene
disorder or on sex chromosome causing sex
chromosomal gene disorder.
HOW GENETIC DISORDER
• Genetic disease most commonly refers to
disease present in all cells of the body &
present since conception.
• Some genetic disease caused by
chromosomal abnormalities due to errors in
meiosis the process which produces
reproductive cells such as sperm & ova.
• Defective genes may also be inherited intact
from the parents, in this case the genetic
disorder is known as a hereditary disease
TYPES OF GENETIC DISORDER
• Single gene disorder
• Multi factorial disorder
Single gene disorder
Where genetic disorders are the
result of a single mutated gene they
can be passed on to subsequent
Only one mutated copy of the gene is needed for
a person to be affected by an autosomal
dominant disorder. Each affected person usually
has one affected parent. There is a 50% chance
that a child will inherit the mutated gene
Two copies of the gene must be mutated for a
person to be affected by an autosomal recessive
disorder. Two unaffected people who each carry
one copy of the mutated gene have a 25%
chance with each pregnancy of having a child
affected by the disorder.
X-linked dominant disorders are caused by
mutations in genes on the X chromosome. The
sons of a man with an X-linked dominant
disorder will not be affected, and his daughters
will all inherit the condition. A woman with an X-
linked dominant disorder has a 50% chance of
having an affected daughter or son with each
X-linked recessive disorders are
also caused by mutations in genes
on the X chromosome. Males are
more frequently affected than
females, . The sons of a man with
an X-linked recessive disorder will
not be affected, and his daughters
will carry one copy of the mutated
gene. With each pregnancy, a
woman who carries an X-linked
recessive disorder has a 50%
chance of having sons who are
affected and a 50% chance of
having daughters who carry one
copy of the mutated gene.
Y linked Y-linked disorders are caused by
mutations on the Y chromosome.
Only males can get them, and all of
the sons of an affected father are
Knowledge of inheritance pattern is
important in Genetic counseling to give the
risk of recurrence.
50% chance of inheritance
25% chance to be affected
50% chance to be a carrier
• Genetic disorders may also be
complex, multi factorial or polygenic,
this means that they are likely
associated with the effects of multiple
genes in combination with lifestyle and
environmental factors. Multi factorial
disorders include heart disease and
• Klinfelters syndrome:
Affected individual has 47 chromosome
• Downs syndrome:
47 chromosome XXX
• Loss of chromosome
45 chromosome XO
GENETIC DISEASES IN
In classics Genetics diseases are described
in different terms :
• Vagbhata - Sahaja or Kulodbhava.
• Charaka - Kulaja.
• Bhelasamhita - Prakrutiprabhava.
• Yanjavalkya - Sancari.
• Sushruta - Adhibalapravruta.
• iÉ§ÉÉÌSoÉsÉmÉëuÉ×iÉÉ rÉå zÉÑ¢üzÉÉåÍhÉiÉSÉåwÉÉluÉrÉÉ: MÑü¹ÉzÉï: mÉëpÉ×iÉrÉ:
iÉåAÌmÉ ÎuSÌuÉkÉÉ qÉÉiÉ×eÉÉ: ÌmÉiÉ×eÉÉ¶ÉÉ | (xÉÑ xÉÔ 24/6)
• The genetic diseases are known to cause by
defects in either the genetic contents of cause
of sperm & ova & consequently they are sub
classified into maternal & paternal groups. The
some disease like kusta, arsha, are the
examples of such diseases.
• iÉ§É xÉWûeÉÉ: zÉÑ¢üÉiÉïuÉSÉåwÉÉluÉrÉÉ: MÑü¸ÉzÉÉåïqÉåWûÉSrÉ:|
ÌmÉiÉ×eÉÉ qÉÉiÉ×eÉÉ¶ÉÉ |
(A xÉ xÉÔ 22/1)
• Sahaja are due to abnormalities of sukra &
arthava. For examples kusta, arsha,
• Classified two types
• There are certain reproductive
abnormalities in females which are
due to beejadosha.
• ÍqÉjrÉÉcÉÉUåhÉç iÉÉ; x§ÉÏhÉÉÇ mÉëSÒ¸lÉÉiÉïuÉålÉç cÉ |
eÉÉrÉliÉå SåuÉÉŠ oÉÏeÉSÉåwÉÉŠ zÉ×hÉÑ lÉÉ: mÉ×jÉMü ||
(cÉ ÍcÉ 30/8)
• Sex determination- Randomly;
Shukraadhikya or arthavadhikya & Daiva
• Maatruja bhaavas – Dominant in female,
Pitruja bhaavas – Dominant in male.
• Genetic Counseling for prevention-
Atulya gotreeya stree purusha,
Asanchaari Roga kula prasuta etc.
• Dusti in matruja beejabhagavayava
Dusti in gudavali
( C Chi 14)
• We have a rich source of knowledge
regarding Today’s Genetic Disorders.
• Currently available Diagnostic methods to
• These are considered as asaadhya, but still
we can try to prevent them through genetic
• At present there is lot of scope for research
in the field of genetics.