The genetics, principles of heredity explain how traits are inherited from one generation to the next through genes. These principles explain patterns of inheritance, such as eye colour, height, and even genetic disorders. This topic is from the Class 12 chapter Principles of Inheritance and Variation in the subject of biology. It is important for examinations like NEET and AIIMS BSc Nursing, where a good understanding of genetic principles can help answer questions on heredity, variation, and function of genes.
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Heredity is defined as the passing of genetic traits from parents to their offspring through genes. It means that characteristics, such as eye colour, texture of hair, and even some kind of disease, can be passed on from generation to generation. Genes are kept in a very small thread-like structure within each cell, called a chromosome. Thousands of genes are carried by the chromosome, referring to segments of DNA responsible for specific characteristics. In the process of reproduction, genetic material from both parents combines to create a unique genetic makeup in their offspring. This process helps in maintaining continuity in a species while also permitting individual differences and variations.
Genetics is the study of heredity and how traits are different among living things. It relates to understanding genes and how genes work when transmitted, expressed, and regulated. The basic units of heredity are genes, which in turn control specific characteristics through the synthesis of proteins and other molecules. There are branches of genetics, molecular genetics, population genetics, and evolutionary genetics. It has a huge impact on medicine, agriculture, and biotechnology, making it easier to understand human health, biodiversity, and genetic variety.
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Variation refers to the differences in traits among individuals in a group or population. Such differences can be in physical features, body shape, colour, or even internal traits like how the body works. Such visible or genetic differences are often described using the term polymorphism. Variation is important for evolution and gives rise to adaptation in species to change in their environment.
There are two primary types of variation:
Gregor Mendel, considered the father of modern genetics, established three basic principles of heredity from his experiments on pea plants, as follows:
Law of Segregation: Two alleles of a gene segregate during meiosis from each other for gamete formation such that each gamete carries only one allele of each gene.
Law of Independent Assortment: Genes for different traits segregate independently of one another in forming gametes and their inheritance is independent.
Law of Dominance: Some alleles are dominant and mask the expression of recessive alleles in heterozygous individuals. Dominance relationships determine the phenotypic outcomes of genetic crosses.
Genetic disorders are diseases resulting from abnormalities in an individual's genetic material. Broadly, there are three types of disorders based on the pattern of inheritance of a particular disorder:
Autosomal Recessive Disorders: Disorders occurring due to the inheritance of two recessive alleles for a gene. Examples include cystic fibrosis, sickle cell disease, and phenylketonuria.
Autosomal Dominant Disorders: It results from the inheritance of a single allele copy for a gene. Examples include Huntington's disease, Marfan syndrome, and neurofibromatosis.
X-linked Recessive Disorders: A result of a mutation in genes found in the X-chromosome, much of their effect falls upon males, who have only one X chromosome. Examples are haemophilia, Duchenne muscular dystrophy, and colour blindness.
Examples of Genetic Disorders: Genetic disorders manifest themselves in multiple ways and, therefore, impact many of the systems and organs within the body. Some of these disorders are:
Cystic fibrosis affects the respiratory and gastrointestinal systems.
Huntington's disease consists of involuntary movements and cognitive decline.
Chromosomal conditions like Down syndrome, result in mental retardation along with developmental delays.
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The process in which genes from parents are passed to their children. Some of the principles of heredity are propagated under Mendel's Laws of Segregation, Independent Assortment, and Dominance, whereby the genetic information in the making is handed down and expressed in individuals.
It was in the 19th century when Gregor Mendel established the foundation of modern genetics using his experiments on pea plants. He introduced basic rules of heredity, such as the laws of segregation and independent assortment, which provided a basis for understanding how the transfer of traits takes place.
A dominant allele is one of the forms of a gene that can mask the phenotypic effect of recessive genes or alleles when such an organism is heterozygous. It is the one reflected in the phenotype when present. The recessive allele can only appear phenotypically with a pair because it is masked by the dominant allele in heterozygotes.
Examples of genetic disorders are cystic fibrosis, a recessive disorder that damages the lungs and digestive system; Huntington's disease, a dominant, progressive neurological disorder characterized by the degeneration of the brain; and Down syndrome, a chromosomal condition that results in delays in development and intellectual ability.
Genetic counselling is the evaluation of an individual's, or family's, risk of inheriting conditions based on family history and genetic testing. Genetic counsellors provide information on genetic disorders, testing options, interpretation of results, and support informed decisions on health care and family planning.
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