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Genetics is the study of heredity and variation in living organisms, focusing on how traits are passed from parents to offspring through genes. It encompasses the molecular structure and function of genes, gene behavior in the context of a cell or organism, and patterns of inheritance across generations.
Concept
Gene mutation refers to a permanent alteration in the DNA sequence that makes up a gene, which can lead to changes in the function or regulation of that gene. These mutations can be caused by errors during DNA replication, exposure to certain environmental factors, or can be inherited, and they play a crucial role in evolution, genetic diversity, and various genetic disorders.
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Inheritance patterns describe how genetic traits or disorders are passed from parents to offspring through alleles. These patterns help predict the likelihood of an individual inheriting a particular trait based on the genetic makeup of their parents.
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DNA, or deoxyribonucleic acid, is the hereditary material in almost all living organisms, encoding the genetic instructions used in their development, functioning, growth, and reproduction. It is composed of two strands that coil around each other to form a double helix, carrying the genetic information in sequences of four types of nucleotides: adenine, thymine, cytosine, and guanine.
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Chromosomes are thread-like structures located within the nucleus of animal and plant cells, made of protein and a single molecule of deoxyribonucleic acid (DNA). They play a crucial role in cell division, ensuring that DNA is accurately copied and distributed in the vast majority of cell divisions.
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A genotype is the genetic makeup of an organism, representing the specific alleles present at a particular set of genes. It is a crucial determinant of an organism's phenotype, which is the observable expression of the genetic information in conjunction with environmental influences.
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A phenotype is the set of observable characteristics or traits of an organism, resulting from the interaction of its genotype with the environment. It encompasses physical appearance, development, biochemical properties, and behavior, and is a critical concept in understanding how genetic and environmental factors influence an organism's traits.
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Autosomal dominant is a pattern of inheritance where only one copy of a mutant gene from an affected parent is sufficient to cause a trait or disorder in the offspring. This means that each child of an affected parent has a 50% chance of inheriting the mutant gene and exhibiting the associated trait or disorder.
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An autosomal recessive condition is a genetic disorder that manifests only when an individual inherits two copies of a mutant gene, one from each parent, located on one of the 22 pairs of autosomes. Carriers, who have only one copy of the mutant gene, typically do not show symptoms but can pass the gene to their offspring.
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X-linked inheritance refers to the transmission of genes located on the X chromosome, which can result in different patterns of inheritance and expression in males and females due to the presence of one X chromosome in males and two in females. This type of inheritance often leads to conditions that predominantly affect males, as they have only one X chromosome, making them more susceptible to recessive disorders carried on this chromosome.
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Genetic counseling is a process that involves evaluating family history and genetic information to assess the risk of inherited conditions, providing individuals and families with guidance and support in understanding and making informed decisions about their genetic health. It plays a critical role in personalized medicine, helping to identify potential genetic disorders and offering options for management, prevention, and family planning.
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Carrier screening is a genetic test used to determine if an individual is a carrier of a specific genetic disorder, which can be passed on to their offspring. It is crucial for identifying potential risks in future pregnancies, especially for couples with a family history of genetic conditions or those belonging to high-risk ethnic groups.
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Methemoglobinemia is when your blood can't carry oxygen very well because something called methemoglobin is too high. This can make you feel tired or have trouble breathing, and doctors can help fix it with medicine or special treatments.
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Xeroderma Pigmentosum (XP) is a rare, inherited condition that affects the skin's ability to repair damage caused by ultraviolet (UV) light, significantly increasing the risk of skin cancers from a young age. Individuals with XP must rigorously protect their skin from sun exposure to prevent severe burns, skin damage, and potential malignancies.
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