WELCOME

Genetics and
teratology
By P. Soniya
M.Sc. N 1st year
SCIENTISTS AND THEIR
CONTRIBUTION
 DR BERNARD AMOS

IMMUNOLOGIST

IMPROVED THE
UNDERSTANDING OF GENETICS

LAID FOUNDATION FOR ORGAN

TRANS PLANTATION
WILLIAM BATESON
ENGLISH BIOLOGIST
COINED THE TERM
GENETICS
• BRITISH DEVELOPMENTAL BIOLOGIST
• HE IS BEST KNOWN FOR HIS
PIONEERING RESEARCH IN NUCLEAR
TRANSPLANTATION AND CLONING.
• IN 1962, JOHN GURDON REMOVED THE
NUCLEUS OF A FERTILIZED EGG CELL
FROM A FROG AND REPLACED IT WITH
THE NUCLEUS OF A CELL TAKEN FROM
A TADPOLE'S INTESTINE. THIS
MODIFIED EGG CELL GREW INTO A NEW
FROG, PROVING THAT THE MATURE
CELL STILL CONTAINED THE GENETIC
INFORMATION NEEDED TO FORM ALL
TYPES OF CELLS.
• HANS SPEMANN
• GERMAN EMBRYOLOGIST
• AWARDED A NOBEL PRIZE IN
PHYSIOLOGY OR MEDICINE IN
1935.
• GREGOR JOHANN MENDEL
• A METEOROLOGIST,
MATHEMATICIAN, BIOLOGIST,
AUGUSTINIAN FRIAR AND ABBOT
OF ST. THOMAS' ABBEY IN BRNO,
MARGRAVIATE OF MORAVIA.
• FATHER OF MODERN GENETICS
OTHERS SCIENTISTS:
FREDERICK GRIFFITH
WATSON AND CRICK
 DEFINITION

GENETICS IS A BRANCH OF BIOLOGY CONCERNED WITH THE STUDY

OF GENES, GENETIC VARIATIONS AND HEREDITARY IN ORGANISMS.
GENETICS IS THE STUDY OF PRINCIPLES AND MECHANISMS OF
HEREDITARY AND VARIATIONS.
VARIATIONS ARE THE DIFFERENCES FOUND IN MORPHOLOGY,
PHYSIOLOGY, CYTOLOGY AND BEHAVIORISTIC TRAITS OF AN
INDIVIDUAL BELONGING TO SAME SPECIES AND APPEARING IN
PROGENY.
HEREDITY: IT IS THE STUDY OF TRANSFER OF CHARACTERS FROM
PARENT TO OFFSPRING FROM ONE GENERATION TO THE NEXT.
 PRE MENDALIAN VIEW

• THIS TYPE OF INHERITANCE DEALS WITH “THEORIES OF BLENDING

INHERITANCE”. WHICH WAS PROPOSED BY KOLRUTER AND NUCLIN.
• IN THIS THERE WILL BLENDING OF THE CHARACTERS AND NOT THE
SEX AND THE COLOUR THE CHILDREN I.E. BLENDING OF CHARACTERS
OF TWO PARENTS.
• IN MOST OF THE CASES THE PROGENY WILL BE RESEMBLING THE
GRAND PARENTS.
 MENDALIAN INHERITANCE:

MENDEL WAS THE FIRST ONE TO REVEAL THE MYSTERY OF HEREDITY

BY HIS INTEREST IN BREEDING OF GARDEN PEAS.
AFTER MENDEL SCIENTIST T H MORGAN PUT FORWARD THE CONCEPT
OF GENES IN HEREDITY DURING 2ND WORLD WAR LATER MANY
SCIENTISTS WITH THEIR EXPERIMENTS LEAD THEIR PATHWAY TO THE
ORIGIN OF MOLECULAR GENETICS.
MENDEL WAS THE 1ST PERSON TO PROPOSE THE TRANSFER OF
CHARACTERS FROM ONE GENERATION TO THE NEXT I.E. INHERITANCE.
Mendel's traits
 MENDEL'S LAWS OF INHERITANCE

1) The Law of Segregation: Each inherited trait is

defined by a gene pair. Parental genes are randomly
separated to the sex cells so that sex cells contain only
one gene of the pair. Offspring therefore inherit one
genetic allele from each parent when sex cells unite in
fertilization.
2) The Law of Independent Assortment: Genes for
different traits are sorted separately from one another so
that the inheritance of one trait is not dependent on the
inheritance of another.
3) The Law of Dominance: An organism with alternate
forms of a gene will express the form that is dominant.
PUNNET SQUARE
HUMAN GENETICS

• HUMAN GENETICS DEALS WITH

THE VARIATIONS BETWEEN
HUMANS. THESE VARIATIONS
ARE, IN PART, REFLECTIONS OF
DIFFERENCES THAT EXIST AT
THE DNA LEVEL.
Normal karyotype
GENETIC DEFECTS AND MODE OF INHERITANCE
Autosomal Dominant pattern
DEFINITION
In autosomal dominant disorders, one altered single copy of a gene is
enough to cause the disease
NUMBER OF AFFECTED ALLELES
Only one allele is needed from the maternal or paternal side
CARRIER STATE
No carrier status
ONSET OF THE DISEASE
Late onset
DOMINANT/ RECESSIVE
Mutated copy of the gene (allele) is in dominant state
CHANCES OFAN AFFECTED CHILD
50% chance of having an affected child
PARENT'S STATUS
One parent is affected
EXAMPLES
Huntington disease, tuberous sclerosis. Myotonic dystrophy. and
neurofibromatosis
Autosomal recessive pattern
DEFINITION
In autosomal recessive disorders, both altered copies of a gene
are needed to cause the disease
NUMBER OF AFFECTED ALLELES
two allele are needed from the maternal or paternal side
CARRIER STATE
Only when one allele is affected
ONSET OF THE DISEASE
early onset
DOMINANT/ RECESSIVE
Mutated copy of the gene (allele) is in recessive state
CHANCES OF AN AFFECTED CHILD
25% chance of having an affected child
PARENT'S STATUS
One parent is unaffected
EXAMPLES
Sickle cell disease and cystic fibrosis.
X linked dominant inheritance pattern
Definition: mode of x linked genetic inheritance
in which a dominant mutant gene causes the
disease
 In females a mutation in one of the two
copies of the gene in each cell is sufficient to
cause the disorder.
 Occurrence is less common
 Mutant gene: a dominant gene on x
chromosome
 More frequently occur in females
 Example diseases: Alpert syndrome, fragile x
syndrome, Rett syndrome.
 
X linked recessive inheritance pattern
Definition: mode of x linked genetic inheritance
in which one or two mutant gene copies cause the
disease
 In females a mutation would have to occur in
both copies of the gene to cause the disorder.
 Occurrence is more common
 Mutant gene: a recessive gene/genes on x
chromosome
 More frequently occur in males
 Example diseases: hemophilia, Duchenne
muscular dystrophy, ichthyosis.
Unusual patterns of inheritance

Types
 Incomplete dominance.
 Co-dominance.
 Genetic linkage.
 Multiple alleles.
 Epistasis.
 Extranuclear inheritance.
 Polygenic traits.
 CODOMINANCE

means that neither allele can mask the

expression of the other allele. An example in
humans would be the ABO blood group, where
alleles A and alleles B are both expressed. So if
an individual inherits allele A from their mother
and allele B from their father, they have blood
type AB.
MULTIPLE ALLELE
 EPISTASIS

• THE INTERACTION OF
GENES THAT ARE NOT
ALLELES, IN PARTICULAR
THE SUPPRESSION OF THE
EFFECT OF ONE SUCH
GENE BY ANOTHER.
 EXTRANUCLEAR INHERITANCE

• EXTRANUCLEAR INHERITANCE OR
CYTOPLASMIC INHERITANCE IS THE
TRANSMISSION OF GENES THAT
OCCUR OUTSIDE THE NUCLEUS. IT IS
FOUND IN MOST EUKARYOTES AND
IS COMMONLY KNOWN TO OCCUR IN
CYTOPLASMIC ORGANELLES SUCH
AS MITOCHONDRIA AND
CHLOROPLASTS OR FROM
CELLULAR PARASITES LIKE VIRUSES
OR BACTERIA.
 BIRTH
DEFECTS
 BIRTH DEFECTS

AN OFTEN-INHERITED MEDICAL CONDITION THAT OCCURS AT OR

BEFORE BIRTH.
ALSO KNOWN AS CONGENITAL ANOMALIES OR ABNORMALITIES
 GENETIC
COUNSELLING
 DEFINITION

• GENETIC COUNSELING IS THE PROCESS OF ADVISING INDIVIDUALS AND

FAMILIES AFFECTED BY OR AT RISK OF GENETIC DISORDERS TO HELP THEM
UNDERSTAND AND ADAPT TO THE MEDICAL, PSYCHOLOGICAL AND FAMILIAL
IMPLICATIONS OF GENETIC CONTRIBUTIONS TO DISEASE; THIS FIELD IS
CONSIDERED NECESSARY FOR THE IMPLEMENTATION OF GENOMIC MEDICINE.
 PURPOSE OF GENETIC COUNSELLING
PROVIDE CONCRETE, ACCURATE INFORMATION ABOUT INHERITED
DISORDER.
REASSURE PEOPLE WHO ARE CONCERNED THAT THEIR CHILD MAY
INHERIT A PARTICULAR DISORDER THAT THE DISORDER WILL NOT
OCCUR.
ALLOW PEOPLE WHO ARE AFFECTED BY INHERITED DISEASE TO
MAKE INFORMED CHOICE ABOUT FUTURE REPRODUCTION.
EDUCATE PEOPLE ABOUT INHERITED DISORDER AND THE PROCESS
OF INHERITANCE.
OFFER SUPPORT BY SKILLED HEALTH CARE PROFESSIONALS TO
PEOPLE WHO ARE AFFECTED BY GENETIC DISORDERS.
 INDICATIONS

ADVANCE MATERNAL AGE

CONSANGUINITY
PREVIOUS CHILD WITH ANOMALIES
REPEATED PREGNANCY LOSS
EXPOSURE TO TERATOGENS
SCREENING ABNORMALITIES
 TYPES

PROSPECTIVE
RETROSPECTIVE
 STEPS

1. HISTORY AND PHYSICAL EXAMINATION

2. PEDIGREE
3. RISK ASSESSMENT
4. DIAGNOSIS
5. COMMUNICATION
6. MANAGEMENT
7. SUPPORTIVE GROUP THERAPY
GENETIC COUNSELLING ASPECTS
 ROLE OF A NURSE IN GENETIC COUNSELLING
 GUIDING WOMEN AND MARRIED COUPLE.
 HELPING PARENTS MAKE DECISION IN REGARD TO NORMAL PRENATAL
DIAGNOSTIC RESULTS
 ASSIST PARENTS WHO HAVE HAD A CHILD WITH A BIRTH DEFECT
 PROVIDE SUPPORT TO HELP THE FAMILY DEAL WITH EMOTIONAL IMPACT OF
BIRTH DEFECTS.
 CO ORDINATE AND COLLABORATE FOR SEVICES