BASIC CONCEPTS

IN GENETICS AND
COMMON GENETIC
DISORDERS
BY-
HIMANI DANIEL
MSC NURSING
MILESTONES IN GENETICS
YEAR SCIENTISTS MILESTONE
1733-1806 KARL FRIEDRICH CROSS POLLINATION
AND JOSEPH IN PLANTS AND
GOTTLIEB OBTAINED HYBRID
OFFSPRINGS
1859 CHARLES DARWIN PUBLISHES “THE
ORIGIN OF SPECIES”
1865 GREGOR MENDEL EXPERIMENTS ON
PLANT
HYBRIDIZATION

1903 - CHROMOSOMES
DISCOVERED AS
HEREDITARY UNITS
1905 WILLIAM BATESON COINS THE TERM
GENETICS
CONTD……..
YEAR SCIENTISTS MILESTONES
1910 THOMAS HUNT SHOWED THAT
MORGAN GENES RESIDE ON
CHROMOSOMES
1918 RONALD FISHER EXPLAINED
CORRELATION
BETWEEN RELATIVES
1927 - GENE MUTATIONS
DISCOVERED
1941 EDWARD TATUM SHOWED THAT
AND GEORGE GENES CODE FOR
BEADLE PROTEINS
1953 JAMES WATSON AND DISCOVERED
F.H.CRICK DOUBLE HELIX
STRUCTURE OF DNA
CONTD……
YEAR SCIENTISTS MILESTONES
1961 - GENETIC CODE
ARRANGED IN
TRIPLETS
1977 - DNA SEQUENCED
1997 FIRST GENOME
SEQUENCED

2001 HUMAN GENOME DRAFT OF HUMAN

PROJECT GENOME RELEASED

2003 HUMAN GENOME 99% OF HUMAN

PROJECT GENOME SEQUENCED
TO A 99.99%
ACCURACY
GENES
 A unit of heredity in a living organism
 Resides on some stretches of DNA and RNA
that codes for a type of protein or a RNA
chain that has a function in the organism
 Each cell in the human body contains about
25000- 35000 genes which carry
information that determine an individuals
traits
 Genes are there for different biological
traits such as eye colour, blood type,
increased risk for specific diseases
MODERN WORKING DEFINITION
 A locatable region of genomic sequence
corresponding to a unit of inheritance
which is associated with regulatory
regions, transcribed regions and other
functional sequenced regions
 A set of instructions that decide what an
organism is like, how it survives and how it
behaves in its environment
STRUCTURE OF GENES
 A (ADENINE)
 C (CYTOSINE)
 G (GUANINE)
 T (THYMINE)
 Different combinations of the letters ACGT
give people different characteristics
PARTS OF A GENE
 A protein coding gene consists of-
 Promoter
 Coding sequence
 Regulator
 Terminator
PROMOTER
 Is a base pair sequence that
specifies where transcription
begins
 The sequences are TATA BOX, CG
BOX, CAAT BOX, which provide
binding sites for transcription
factors
CODING SEQUENCE
 Is a base pair sequence that includes
coding information for the polypeptide
chain specified by the gene
 Coding regions are known as axons
which are expressed with intervening
sequences known as introns which are
not expressed
 HGP has revealed that there are about
1300-1500 genes on a chromosome and
are of different sizes
TERMINATOR
 Is a sequence that specifies
the end of the mRNA
transcript
OTHER FEATURES
 Gene also has regulator, enhancer,
silencer regions
 The first and the last axon contain
untranslated regions known as 5’UTR
and 3’UTR
 5’UTR marks the start of transcription
and contains an initiator codon
indicating the start of translation
 3’UTR contains a terminator codon
which marks the end of translation
JUMPING GENES
 Discovered by Barbara Mcclintock
 Also known as transposons or
transposable genetic elements
 Are regions of DNA which can jump
to and fro within single
chromosome or an adjacent one
 Helpful in transport of the desired
genes into the host cell
PSEUDO GENES
 Are sequences that show a
striking similarity with
functional genes but are not
transcribed as their regulatory
regions have been altered by
mutations
TRANSCRIPTION
TRANSLATION
 In this the mRNA produced by
transcription is decoded by ribosomes to
produce a specific amino acid chain or
polypeptide that will later fold into an
active protein
 It takes place in 4 phases-
 ACTIVATION
 INITIATION
 ELONGATION
 TERMINATION
TRANSCRIPTION AND
TRANSLATION
DNA
 DNA
 Long polymer made of repeating units called as
nucleotides
 Has two helical chains each coiled around the
same axis with a radius of 10 Angstroms
 Each chain has a backbone made of alternating
phosphate and sugar residues
 Attached with the backbone are base ACGT
 Together they form the complete nucleotide
SENSE AND ANTISENSE
 A DNA sequence is called sense
if its sequence is the same as
that of messenger RNA
 The sequence on the opposite
strand is called antisense
 Both sequences are present on
each strand
SUPERCOILING
 The twisting of DNA like a rope
is called supercoiling
 Positive supercoiling
 Negative supercoiling
RELAXED DNA
NEGATIVE SUPERCOILING
MITOCHONDRIAL DNA
DNA REPLICATION
DNA REPLICATION
CHROMOSOMES
 Theodar boveri claimed chromosomes to
be vectors of heredity
 Made up of DNA tightly coiled many times
around proteins called histones
 Are tightly packed into a condensed
structure called chromatin
 Structure varies through the cell cycle
STRUCTURE OF CHROMOSOMES
KARYOTYPE
 An organised profile of a persons
chromosomes
 Chromosomes are arranged and
numbered by size from largest to
smallest
 Helps to identify chromosomal
alterations thus detecting genetic
diseases
 Karyology is the study of whole set of
chromosomes
NORMAL HUMAN MALE
KARYOTYPE
DOWNS SYNDROME KARYOTYPE
COMMON GENETIC DISORDERS
 SINGLE GENE DISORDERS
 AUTOSOMAL DOMINANT
 AUTOSOMAL RECCESSIVE
 X LINKED DOMINANT
 X LINKED RECCESSIVE
 Y LINKED
 MITOCHONDRIAL
AUTOSOMAL DOMINANT
AUTOSOMAL RECESSIVE
X LINKED DOMINANT
X -LINKED RECESSIVE
Y LINKED
MITOCHONDRIAL
 DOWNS SYNDROME
 Global incidence is 1 in 7000 live births
 In India 2.2 per 1000 live births
 Karyotype is 47xx or xy +21
 Trisomy 21 where there are 47 chromosomes
instead of 46
 Translocation of chromosome 21 with 14 or 13
or 15
MANAGEMENT
 Symptomatic care
 Supportive care
 Physiotherapy
 Speech therapy
 Special education
 Occupational training
 Counselling
EDWARD SYNDROME
• First described by John Edward in
1960
• Also known as trisomy 18
• Caused by nondisjunction
• Incidence is 1 in 3000 live births
• Three copies of chromosome 18
• Karyotype is 47xx or xy + 18
CLINICAL FEATURES
 Mental retardation
 Low set ears
 Micrognathia
 Overlapping flexed fingers
 Congenital heart defects
 Rocker bottom feet
 microcephaly
HAEMOPHILIA
 Reccessive sex linked x chromosome
disorder
 Males exhibit disease, females are carriers
 Haemophilia A and B types
 Impairment in bodys ability to control
blood clotting
HEMOPHILIA INHERITANCE
MANAGEMENT
 No cure present
 Regular infusion of deficient
clotting factors
 Exercises
 Avoiding injury and trauma
 Preconception counseling
SICKLE CELL DISEASE
 Autosomal reccessive blood disorder
 RBC assume an abnormal rigid sickle
shape
 Mutation occurs in hemoglobin gene
 Hb A is replaced with Hb S
SICKLE CELL INHERITANCE
CLINICAL FEATURES
 Abdominal pain
 Bone pain
 Breathlessness
 Fatigue
 Pallor
 Jaundice
 Frequent urination
 Chest pain
MANAGEMENT
 Folic acid
 Analgesics
 Fluids
 Antibiotics
 Blood transfusion
 Oxygen
 Bmt
TURNERS SYNDROME
 Also known as gonadal dysgenesis
 Occurs 1 in 5000 females
 Occurs due to genetic mosaicism or
nondysjunction or partial monosomy
CLINICAL FEATURES
 Short stature
 Broad chest
 Low hairline
 Low reproductivity or sterility
 Underdeveloped gonadal structures
 Amennorhoea
 Webbed neck
 Heart defects
 Horse shoe shaped kidney
 Visual and hearing impairments
 ADHD
 Learning disabilities
TREATMENT
 Growth hormone
 Estrogen replacement
 Support groups
CYSTIC FIBROSIS
 Also known as mucoviscidosis
 Mutation in the gene cystic fibrosis
transmembrane conductane
regulator
 Loss of amino acid phenylalanine
 More common among caucasians
 Scarring and cyst formation in
pancreas
CYSTIC FIBROSIS INHERITANCE
CLINICAL FEATURES
 Poor growth and poor weight gain
 Accumulation of thick, sticky mucus
 Frequent chest infections
 Cough and dyspnea
 Hemoptysis pancreatitis
 Bronchiectasis
 Coagulation disorders
 Infertility in males
 TREATMENT
 Oxygen
 Antibiotics
 Chest physiotherapy
 Mechanical ventilation
 Pancreative enzymes
 Vitamins
 Exercises
 fluids
KLINEFELTER SYNDROME
 Males have an extra chromosome and
known as XXY MALES OR 47 XXY MALES
 Occurs 1 in 5000 males
CLINICAL FEATURES
 Abnormal body proportions
 Gynecomastia
 Infertility
 Sexual problems
 Tall height
 Germ cell tumours
TREATMENT
 Testosterone therapy
 Support groups
THALASSEMIA
 Also known as cooleys anemia
 Inherited abnormality of
hemoglobin production
 Occurs due to mutation or
deletion
 Alpha thalassemia type
 Beta thalassemia type
THALASSEMIA INHERITANCE
CLINICAL FEATURES
 Still birth
 Anemia
 Bone deformities
 Fatigue
 Growth failure
 Jaundice
 Dyspnea
MANAGEMENT
 Blood transfusion
 Neocyte transfusion
 Chelation thrapy
 Spleenectomy
 Vitamins
 BMT
GENE MAPPING
 Refers to mapping of genes to specific
locations on chromosomes
 Techniques include linkage and association
 Uses ---

 Medicine
 Agriculture
 Biotechnology
 Forensics
GENE THERAPY
 Is the insertion, alteration, or removal of
genes within an individuals cells and
tissues to treat disease
 Done in following ways-

 Insertion
 Swapping
 Repaired
 Altering regulation
TYPES OF GENE THERAPY
 GERM LINE THERAPY
 SOMATIC GENE THERAPY
 PHARMACOLOGICAL GENE
THERAPY
VECTORS FOR GENE THERAPY
 VIRUSES
 DIRECT INJECTION
 PHYSICAL METHODS
 CHEMICAL METHODS
 HYBRID METHODS
PROBLEMS OF GENE
THERAPY
 SHORT LIVED NATURE
 IMMUNE RESPONSES
 VIRAL VECTORS
 MULTIGENE DISORDERS
 TUMORS
ROLE OF NURSE
 Assess patient, family, health and
related history
 Collect relevant genetic testing records
 Provide information
 Psychological support
 Assist genetic specialist in
implementation of therapy
 Maintain records
 Follow up care
THANK YOU