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Intro To Genetics

This document provides an introduction to genetics, including definitions of key terms like gene, genome, DNA and chromosomes. It describes the structure of genes and how genetic information is passed from parents to offspring. It also discusses different types of genetic variations and mutations that can cause genetic disorders.

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sami ullah
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12 views

Intro To Genetics

This document provides an introduction to genetics, including definitions of key terms like gene, genome, DNA and chromosomes. It describes the structure of genes and how genetic information is passed from parents to offspring. It also discusses different types of genetic variations and mutations that can cause genetic disorders.

Uploaded by

sami ullah
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PDF, TXT or read online on Scribd
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Introduction to Genetics

Dr Najia Tabassum
• Gene is the basic unit of heredity passed from parent to child.
• They are made up of sequences of DNA ,arranged, one after
another, at specific locations on chromosomes in the nucleus.
Genome is the total DNA in a cell .
Each genome has 23 pairs of chromosomes

•.
• Genetics is the study of genes and heredity.
• Heredity is the passing of genetic information and traits (such as eye
color, certain disease etc) from parents to offspring.
• Genome has coding (2%) and non-coding regions (98%).
• Coding genes make proteins such as enzymes, structural elements,
and signaling molecules
Exons are the coding regions. The coding region genes translate into
proteins
Introns are the non-coding regions: The non-coding region genes
regulate gene expression required for assembling cells, tissues, and
organisms. They do not translate into proteins
Classes of functional non-coding DNA
• The major classes of functional non–protein-coding DNA sequences
found in the human genome include :
1. Promoter and enhancer regions that bind protein transcription
factors
2. Noncoding regulatory RNAs. Non coding DNA is transcribed into
non-coding RNA such as micro-RNAs and long noncoding RNAs .
They do not translate into protein, but regulate gene expression
3) Mobile genetic elements e.g., transposons.
• Transposons (jumping genes) are DNA segments that are capable of
moving from one place to another in a genome
• Their function is gene regulation and chromatin organization.
Chromatin is a complex of DNA and protein that form the chromosome .
Chromosomes have two areas
1. Heterochromatin is highly condensed, gene-poor, and transcriptionally silent
2. Euchromatin is less condensed, gene-rich, and easily transcribed
4) Special structural regions of DNA
a) Telomeres :chromosome ends
b)Centromeres
• It is the constricted region of a
chromosome, connecting the sister
chromatids, creating a short arm
and a long arm
• It helps the cell divide up its DNA
during division (mitosis and meiosis)
A nucleosome is a section of DNA that is wrapped around a core of proteins called histone.
• Humans are 99% sequence-identical with chimpanzees
• Two humans are typically >99.5% DNA-identical . Hence the
variation, including differential susceptibility to diseases and
environmental exposures, is encoded in <0.5% of our DNA ( 15 million
base pairs).
DNA Variation
• The two most common forms of DNA variation are ;
1. Single-nucleotide polymorphisms (SNPs):SNPs are variants at single
nucleotide positions.
2)Copy number variations (CNVs):Sections of the genome are repeated
and their number varies between individuals.
Terms used in Genetics
• Hereditary disorders are derived from one’s parents, are transmitted
in the gametes through the generation.
• Congenital means present at birth. Can be and cannot be genetic
e.g., congenital syphilis.
• Some genetics diseases present e.g. Huntington disease begins only
after the third or fourth decade of life.
Mutations in protein coding genes
• Mutation refers to permanent changes in the DNA.
• Mutations that affect germ cells are transmitted to the progeny and
may give rise to inherited diseases.
• Mutations in somatic cells are not transmitted to the progeny . They
are important in the causation of cancers and some congenital
malformations
Types of mutations
• Point mutations result from the substitution of a single nucleotide
base by a different base, resulting in the replacement of one amino
acid by another in the protein product eg sickle cell anemia
• Point mutations may change an amino acid codon to a chain
termination codon, or a stop codon. They interrupt translation . They
are also called missense mutation
• Frameshift mutation: insertion or deletion of nucleotide bases in
numbers that are not multiples of three
• A silent mutation is a type of
mutation that does not usually
affect the function of the
protein.
Trinucleotide repeat mutations are characterized by amplification of a sequence
of three nucleotides

Example fragile X syndrome, 200 to 4000 tandem repeats of CGG within FMR1 gene
Structural variations in Protein-Coding Genes
• Structural variations in coding genes are :
1. Amplifications : An increase in the number of copies of a gene in a
genome.
2. Deletions: loss of DNA sequences
3)Translocation : Chromosome breaks and either the whole or a
portion of it reattaches to a different chromosome
“Philadelphia chromosome”—translocation t(9;22) between the BCR
and ABL genes in chronic myeloid leukemia

(
Categories of Genetic Disorders
1. Mendelian disorders :Mutations in single genes. These diseases are
hereditary and familial e.g. storage diseases and inborn errors of
metabolism.
2. Complex disorders : Multiple genes as well as environmental
influences. Also called multifactorial diseases .Examples are
hypertension, diabetes, and allergic and autoimmune diseases
3.Diseases due to Chromosomal abnormalities
a) Structural : Chromosomal breakage followed by loss or
rearrangement of material
b) Numerical : Alteration in the chromosome number e.g. Trisomy 21.
4) Others : Trinucleotide repeats and mutations in mitochondrial
DNA
THANK YOU

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