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Genetics-definition
Branch of biological sciences which deals with the transmission of characteristics from parent to offspring.
The term genetics was coined by BATESON in 1906. It has been derived from the greek word gene (to become)
Components
Heredity-: study of factors responsible for the resemblance between parents and their offsprings Variation-: concerned with the forces or influences due to which no two organisms are exactly alike.
Chromosomes
In the nucleus of each cell, the DNA molecule is packaged into thread-like structures called chromosomes
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.
Gene
Genes are the basic unit of heredity that determine the unique physical, chemical and mental characteristics and traits of all individuals
DNA
Deoxyribonucleic acid or DNA, is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms
The information in DNA is stored as a code made up of four chemical bases: adenine (A), guanine (G), cytosine (C), and thymine (T). DNA bases pair up with each other, A with T and C with G, to form units called base pairs. Each base is also attached to a sugar molecule and a phosphate molecule.
Together, a base, sugar, and phosphate are called a nucleotide. Nucleotides are arranged in two long strands that form a spiral called a double helix.
Importance
Knowledge of genetics is helpful in understanding the causation of diseases Help us to understand how normal variations between individuals are brought about
Helpful in preventing genetic disorders through genetic counseling and antenatal diagnosis. Helps to solve legal problems.
The analysis of human DNA in any of its forms or related products (chromosomes, RNA, proteins)
Genetic Testing (also called DNA-based tests) is used to test for genetic disorders which involves direct examination of the DNA molecule itself.
More definitions
Genotype vs. Phenotype
The genetic make-up, as distinguished from the physical appearance
Mutation
A genetic change, usually one that is associated with a disease
Karyotype
A visual presentation of chromosomes
2. Acquired
Tests for changes that affect only certain cells or cell types in the body, and that occurred later in life
Biochemical Test
Analyzes the quantity of a downstream product of a gene (e.g. not looking directly at the gene, or the chromosome). Example: Newborn Screening
Can test siblings of affected child to see if they are carriers for the disease (1 in 70 in the general population are carriers)
Errors in metabolism
PKU : blood and urine tests Congenital hypothyroidism : Neonatal Screening for T4 (thyroxine), TSH or both
Galactosemia
Screeing of urine or serum for galactose
Cystic fibrosis
Testing for high sweat chloride level
Approaches
Category 1: disorders requiring immediate treatment/prevention/surveillance Phenylketonuria-: dietary management Multiple endocrine neoplasms -:life preserving thyroidectomies
Category II
Testing assymptomatic carrier to define reproductive risks-for future Sex linked disorders- hemophilia, muscular dystrophy Autosomal recessive disorders-cystic fibrosis, sickle cell diseases
Category III
Testing healthy young person with predisposition to develop disease Familial breast cancer Hereditary non polyposis colon cancer-: avoid environmental dietary factors
Category IV
Testing healthy young person who will develop disease Polycystic kidney diseases Parkinsons disease
Ethical concerns
Confidentiality should be maintained
Nursing aspects
Assist with testing procedures Support the client and family Appropriate education and clarification Support for the family who chooses therapeutic abortion, before, during & after procedure
Should be able to explain the complete genetic information to the family in a simple way Must take a thorough family history, informations about exposure and life style Information about the affected and unaffected conditions
Summary
Constitutional genetic tests impact patients with inherited disorders and their families, by providing information about diagnosis, prognosis, treatment, and informing reproductive decisions Genetic tests for acquired diseases impact patients with diseases like cancer, provide information about diagnosis and prognosis, and inform treatment decisions Genetics and genetic testing impacts many phases of our lives, and will do so even more in the future