Genetics Genetics is the study of genes, genetic variation, and heredity in living organisms.

It is generally considered a field of biology, but it

intersects frequently with many of the life sciences and is strongly linked with the study of information systems.

Branches of Genetics CytogeneticsThe heredity units or genes are formed of DNA. These are integral part of chromosomes. The chromosomes are contained in the
nucleus. The nuclei of germ cells are the only bridge between successive generations. The study of genes in the cell is called
Cytogenetics.

Biochemical Genetics
The chemistry of chromosomes, genes and nucleic acids and the chemistry of various processes related to them are studied with the
help biochemistry. The branches of science which is considered with the biochemical study of genetic material are named as
'Biochemical Genetics.'

Physiological GeneticsGenetics helps in explaining some very important physiological characteristics like blood groups, Rh factor, alkaptoneuria, sex
differentiation and sex determination. Some physiological abnormalities like sickle cell anemia etc can be explained with the aid of
genetic knowledge.

Clinical GeneticsGenetics has also helping in finding out the root cause of certain diseases like hemophilia, diabetes etc. All these diseases are caused
on account of defective genotype. Moreover serology and blood transfusion are two most important fields, where genetics has
directly assisted physiology and helped in saving life.

Radiation Genetics
The study of effects of radiations on genes and the changes in their expression is being studied widely in the field of Radiation
Genetics

GeneGene is a locus (or region) of DNA that encodes a functional RNA or protein product, and is the molecular unit of heredity.
GenomeA genome is an organisms complete set of DNA, including all of its genes. Each genome contains all of the information needed to
build and maintain that organism. In humans, a copy of the entire genomemore than 3 billion DNA base pairsis contained in all
cells that have a nucleus.

ChromosomeIn the nucleus of each cell, the DNA molecule is packaged into thread-like structures called chromosomes. Each chromosome is
made up of DNA tightly coiled many times around proteins called histones that support its structure.
Chromosomes are not visible in the cells nucleus,not even under a microscope,when the cell is not dividing. Each chromosome has a
constriction point called the centromere, which divides the chromosome into two sections, or arms. The short arm of the
chromosome is labeled the p arm. The long arm of the chromosome is labeled the q arm. The location of the centromere on each
chromosome gives the chromosome its characteristic shape, and can be used to help describe the location of specific genes.

The Cell Cycle-

G1 - first gap
S - DNA synthesis (replication)
G2 - second gap
M - mitosis
Mitosis - nuclear/chemical events resulting in two daughter nuclei which have identical genetic material to each other and to the
mother cell
Cytokinesis - division of the cytoplasm. This usually occurs with mitosis, but in some organisms this is not so

MitosisMitosis is how somatic or non-reproductive cells divide. Somatic cells make up most of your body's tissues and organs, including
skin, muscles, lungs, gut, and hair cells. Reproductive cells (like eggs) are not somatic cells.
In mitosis, the important thing to remember is that the daughter cells each have the same chromosomes and DNA as the parent cell.
The daughter cells from mitosis are called diploid cells. Diploid cells have two complete sets of chromosomes. Since the daughter
cells have exact copies of their parent cell's DNA, no genetic diversity is created through mitosis in normal healthy cells.
Phases1.
2.
3.
4.
Meiosis-

Prophase
Metaphase
Anaphase
Telpohase

Meiosis is the other main way cells divide. Meiosis is cell division that creates sex cells, like female egg cells or male sperm cells.
What is important to remember about meiosis? In meiosis, each new cell contains a unique set of genetic information. After meiosis,
the sperm and egg cells can join to create a new organism.
Meiosis is why we have genetic diversity in all sexually reproducing organisms. During meiosis, a small portion of each chromosome
breaks off and reattaches to another chromosome. This process is called "crossing over" or "genetic recombination." Genetic
recombination is the reason full siblings made from egg and sperm cells from the same two parents can look very different from one
another.
MutationA mutation is a permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or
other genetic elements.
Tyes of mutation Inherited
Acquired
Genetic disordersA Genetic disorder is a disease caused by a different form of gene called a variation ,or alteration of gene called a mutation.

CausesMutations
Aneuploidy
Deletions
Duplications
Inversion
Translocation
Common genetic disorders-

Cystic Fibrosis

Huntingtons Disease
Down Syndrome
Jackson-Weiss Syndrome
Neurofibromatosi
Sickle Cell Disease
Thalassemias
Ectrodactyly
Fragile X
Turner syndrome
Hemophilia

Celiac Disease
Becker Muscular Dystrophy
Noonan Syndrome

Diagnosis of genetic disorder-

Non-Invasive Test
Ultrsound
Fetal echocardiography
Fetal radiology

Invasive Test
Aminocentesis
Fetal blood sampling

Fetal tissue sampling

Chorionic villus sampling
MSAFP
fetoscopy

Genetics Nurse
A genetics nurse is a licensed professional nurse with special education and training in genetics. Genetics nurses help people at risk for or affected
by diseases with a genetic component achieve and maintain health. Many common diseases are now known to have a genetic component including
cancer, heart disease, diabetes, and Alzheimers.
Genetics nurses perform risk assessment, analyze the genetic contribution to disease risk, and discuss the impact of risk on health care management
for individuals and families. They also provide genetics education, provide nursing care to patients and families and conduct research in genetics.

Nurses In Genetics Work With Patients And Their Families In Many Settings

specialty clinics where gene-based diagnoses and therapies are offered

prenatal and reproductive technology centers
cancer centers
primary health care settings
pediatric clinics
industrial health
school health
research centers
biotech and insurance industries

Who Could Benefit From Genetics Nursing?

Individuals and families with known hereditary conditions or diseases thought to have a hereditary component
Examples: Alzheimer's disease, cancer, cystic fibrosis, diabetes, Down syndrome, hemophilia, Huntingtons disease, Parkinsons
disease, Sickle Cell disease
Anyone who is considering genetic testing
Individuals and couples who are concerned with issues related to pregnancy, such as birth defects, transmission of genetic
conditions, or effect of pregnancy on existing genetic risk
Couples who have had multiple miscarriages
Couples who are related, such as first cousins
Healthcare providers who seek genetics consultations for their patients

Role of a Nurse in Genetic Counseling

Recognize or suspect genetic disorders by their physical characteristics and clinical manifestations

Create a genetic pedigree (diagram of the family history), including the cause of death and any genetically linked ailment

Explain those aspects of diagnosis, prognosis and treatment that affect the patient and his family. Relate information that the
parents affected or at risk individuals and caregivers need to know to plan for the care of the patient and his family

Clear-up misconceptions and allay feelings of guilt

Assist with the diagnostic process by exploring medical and family history information, by using physical assessment skills,
by obtaining blood sample. or by assisting with other means of sample collection as indicated

Enhance and reinforce self-image and self-worth of parents, child or the individual at risk for the presenting with a genetic
Condition

Encourage interaction with family and friends, offer referrals and phone numbers of support group

Refer and prepare a family for genetic counseling:

Inform that the prenatal testing does not mean termination of pregnancy, e.g. it may confirm that the fetus is not affected,
thus eliminating worry throughout pregnancy, although the determination of an abnormality is also a possibility

Encourage the parents and patients to allow adequate time to deliberate on a course of action. For example, they should not
rush into a test without full knowledge of what the result can and cannot tell, nor should they rush to make future
reproductive decisions, such as tubal ligation because, in a few years, they may want more children

Remain nonjudgmental

Check with the government policy for information and resources regarding neonate testing required, state regulations on
genetic testing and research

Recognize that there are many ethical, legal, psychosocial and professional issues associated with obtaining, using and sorts
ing genetic information

Be aware of associated professional responsibilities, including informed consent, documentation in medical records, medi\
cal releases and individual privacy of information.