Principle of genetics, chromosomal aberrations and clinical genetics
Chromosome aberrations include changes in chromosome number (gains and losses) and changes in structure (deletions, inversions, and exchanges). Chromosomes can be viewed by standard light microscopy and many of these aberration types can be observed. Read the article to know more.
Dr. Nivedita26 Nov, 2024
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Principle of Genetics, Chromosomal Aberrations and Clinical Genetics: Humans die but their genes survive in the offspring.
Genetics is a branch of biology that studies genes, genetic variation, and heredity in organisms. In genetic science, scientists try to find out how traits are passed from parents to offspring and how genetic information is expressed. There are many aspects of genetics; some important ones include Mendelian laws of inheritance, molecular genetics, population genetics, genetic mutations, and more.Mendelian Laws of Inheritance
Gregor Mendel formed the foundation of the laws governing heredity in the 19th century; sadly, his work gained recognition only after his death. Mendel’s meticulous breeding experiments with pea plants led to the formulation of three key principles: 1.Law of Segregation: Each individual carries two alleles for each trait, which segregate during gamete formation, ensuring that each gamete receives only one allele. 2.Law of Independent Assortment: Alleles for different traits segregate independently of each other during gamete formation, leading to genetic variation. 3.Law of Dominance: In heterozygous individuals, one allele may mask the expression of another. The dominant allele is expressed, while the recessive allele is not. These principles laid the groundwork for understanding how traits are inherited and predicted the outcomes of genetic crosses.Genetic Mutations: Engines of Diversity
Mutations, changes in the DNA sequence, are the raw material of evolution. They can occur due to errors in DNA replication or external factors like radiation.Chromosomal Aberrations: Abnormalities in Chromosomes
Changes in the structure and number of chromosomes can lead to genetic variation and disorders. These alterations can occur during cell divisions, affecting progenitor cells and leading to detrimental impacts on human health.Types of Chromosomal Aberrations
Chromosomal aberrations can be broadly categorized into two types: numerical and structural.Numerical Aberrations
1.Aneuploidy: This occurs when there is an abnormal number of chromosomes. The most famous example is Trisomy 21 or Down syndrome. 2.Polyploidy: This condition involves having more than two complete sets of chromosomes.Structural Aberrations
Structural changes in chromosomes can occur due to errors during meiosis or exposure to mutagens. These include deletions (such as Cri du Chat caused by a deletion on chromosome 5), duplications, inversions, and translocations.Clinical Genetics
This area of medicine deals with the diagnosis, management, and counseling of individuals with genetic disorders. A key example is determining the likelihood that offspring will inherit a genetic disease. Clinical genetics plays a crucial role in personalized medicine, where genetic information guides the prevention, diagnosis, and treatment of diseases.Key Areas Include
1.Genetic Counseling 2.Diagnostic Genetic Testing 3.Prenatal and Preconception Screening 4.Newborn Screening 5.Cancer GeneticsPrinciple of Genetics FAQs
What are single gene disorders?
Single gene disorders, also known as monogenic disorders, are diseases caused by mutations in a single gene. Examples include cystic fibrosis, sickle cell anemia.
What is Turner syndrome?
Turner syndrome is a chromosomal disorder that affects females, where one of the X chromosomes is missing or partially missing. It can cause a variety of medical and developmental issues, including short stature, delayed puberty, infertility, heart defects, and certain learning disabilities.
Which cancers are associated with chromosomal aberrations?
Several cancers are associated with chromosomal aberrations. For example Chronic myeloid leukemia (CML),result of translocation between chromosomes 9 and 22.Burkitt’s lymphoma is associated with a translocation between chromosomes 8 and 14.Retinoblastoma involves deletions in chromosome 13.
What is karyotyping?
Karyotyping is a laboratory technique that produces an image of an individual’s chromosomes. This image, called a karyotype, allows scientists and doctors to examine the size, shape, and number of chromosomes.
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