Genetics

Dr. Shahid Zafar

MBBS, MBA, DCP, M.Phil (Pathology), (PhD)
Associate Professor
Department Of Pathology
Liaquat College Of Medicine and Dentistry
Dar-ul-Sehat Hospital

shahidzaff@yahoo.com
03009371286
 GENE
• A portion of a DNA molecule that serves as
the basic unit of heredity. Genes control the
characteristics that an offspring will have by
transmitting information in the sequence of
nucleotides on short sections of DNA.
• http://learn.genetics.utah.edu/content/
basics/dna
 Trait
• A distinguishing quality or characteristic, typically one
belonging to a person.
• A phenotypic trait, or simply trait, is a distinct variant of
a phenotypic characteristic of an organism; it may be
either inherited or determined environmentally, but
typically occurs as a combination of the two.
• For example, eye color is a character of an organism,
while blue, brown and hazel are traits.
 Allele
• The definition of alleles are pairs or series of
genes on a chromosome that determine the
hereditary characteristics. An exampleof
an allele is the gene that determines hair
color.
• Since human cells carry two copies of
each chromosome? they have two versions of
each gene?. These different versions of a gene
are called alleles?.
• Alleles can be either dominant or recessive
• Concept of
Dominant and
Receesive
Allele
 Dominant Allele
• Dominant alleles show their effect even if the
individual only has one copy of the allele (also
known as being heterozygous?).
• For example, the allele for brown eyes is
dominant, therefore you only need one copy
of the 'brown eye' allele to have brown eyes
(although, with two copies you will still have
brown eyes).
 Recessive alleles
• Recessive alleles only show their effect if the
individual has two copies of the allele (also
known as being homozygous?).
• For example, the allele for blue eyes is
recessive, therefore to have blue eyes you
need to have two copies of the 'blue
eye' allele.
 Codominance
• If both alleles are dominant, it is called co
dominance?. The resulting characteristic is due
to both alleles being expressed equally. An
example of this is the blood group AB which is
the result of codominance of the A and B
dominant alleles.
What are dominant and recessive alleles?
What are sex-linked genes?
• Some genes are found on the sex chromosome?,
X.
• These genes are inherited with the X
chromosome (from the mother if it is a boy or
from either mother or father if it is a girl).
• Females have two X chromosomes (XX), while
males have one X chromosome and one Y
chromosome (XY).
• This means females have two alleles for X-linked
genes while males only have one.
• Some genetic diseases, are caused by sex linked
genes, for example haemophilia?.
• The allele for haemophilia is recessive so two
copies are needed for a female to have the
disease
• However, because males only have one X
chromosome, they only need one copy of the
haemophilia allele to have the disease.
• This means haemophilia is much more common
in males than in females.
For example:
• Functioning allele = H
• Haemophilia allele = h
•
• XH XH = healthy female
• XH Xh = carrier? female
• Xh Xh = haemophilia female
• XH Y = healthy male
• Xh Y = haemophilia male
Genetic Diseases
Before we go any further, let’s get some confusing vocab out
of the way:
• Hereditary: Cause is genetic and has the possibility of being
passed down to children
• Familial: Multiple people within a family have the disease
but the cause may be due to shared environmental factors.
For example, everyone in the family may be obese, but it’s
because they all have the same die. Or multiple people in
the family develop lung cancer, but it is because they
all smoke
• Congenital: Caused by something in utero (while pregnant).
This may or may not be inherited
• Sporadic: Occurs by chance
 Genotype and Phenotype
• The genotype is the set of genes in our DNA
which is responsible for a particular trait.
The phenotype is the physical expression, or
characteristics, of that trait. For example, two
organisms that have even the minutest
difference in their genes are said to have
differentgenotypes.