GENETICS AND GENETIC COUNSELLING Flashcards
a branch of medical science
which is concerned with
the transmission of
characteristics from parents
to offspring
genetics
It has been derived from
Greek word “gene” which
means to become or to
grow into.
genetics
was a British geneticist. He was
the first person to use the term
“genetics” to describe the study
of heredity and biological inheritance.
william bateson
- austian monk
- father of modern genetics
- experimented with pea plants
gregor mendel
Branch of science which studies
genes and the pattern of
inheritance of particular diseases
genetics
The transmission of familial
elements from one generation to
the next.
inheritance
- Basic unit of genetic information.
- determine the inherited characters;
functional subunit of DNA and contain
instruction for making protein
gene
- storage units of genes
- structure within the cell that deliver the
genetic material as DNA
chromosomes
- is a nucleic acid that contains the genetic
instructions specifying the biological
development of all cellular forms of life
DNA
the collection of genetic information
genome
a diagrammatic
representation of
diseases history in a
family up to 3rd degree
relative.
genetic pedigree
Human cell contain 23 pairs of
chromosomes. ___ pairs
autosomal and ___ pair/s sex
chromosomes
22; 1
Sex chromosomes: ___ for female
and ___ for male.
XX female
XY male
means abnormal
gene which can not perform its
function in proper way
mutant gene
individual who is known to have disease
affected individual
individual who
appear normal but has one copy
of mutant gene.
carrier individual
a process by which patients or relatives, at risk
of an inherited disorder, are advised of the
consequences and nature of the disorder, the
probability of developing or transmitting it and
the options open to them in management and
family planning in order to prevent or avoid it
genetic counseling
- Post-graduates health professionals
with a graduate diploma or Master’s
in genetic counseling. - A team of physician, nurse and social
worker who undergone special
training in genetic counseling - Many engage themselves in research
activities related to the field of
medical genetics & genetic counseling
genetic counselors
A search in apparently
normal population for
individual with
abnormal genes which
increase their risk or
their offspring of being
affected by a disease
genetic screening
types of genetic screening
- carrier identification
- prenatal diagnosis
- newborn screening
- forensic screening / paternity test
