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De Novo Mutation
A de novo mutation is any mutation/alteration in the genome of any organism (humans, animals, plant, microbes, etc.) that wasn't present or transmitted by their parents. This type of mutation (like any other) occurs spontaneously during the process of DNA replication during cell division in a fetus whose close, biological relatives don't have the mutation. Often, these kind of mutations have very little to no effect on the affected organism, but in rare cases they have a notable and/or serious effect on overall health, physical appearance, etc. Rate The average number of spontaneous mutations (not present in the parents) an infant has in its genome is approximately 43.86 DNMs. A study done in September of 2019 by the University of Utah Health revealed that certain families have a higher spontaneous mutation rate than average, meaning that their newborns had more spontaneous mutations (not present in their parents) than the average newborn, this tendency was found to be hereditar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DNA Replication
In molecular biology, DNA replication is the biological process of producing two identical replicas of DNA from one original DNA molecule. DNA replication occurs in all living organisms acting as the most essential part for biological inheritance. This is essential for cell division during growth and repair of damaged tissues, while it also ensures that each of the new cells receives its own copy of the DNA. The cell possesses the distinctive property of division, which makes replication of DNA essential. DNA is made up of a double helix of two complementary strands. The double helix describes the appearance of a double-stranded DNA which is thus composed of two linear strands that run opposite to each other and twist together to form. During replication, these strands are separated. Each strand of the original DNA molecule then serves as a template for the production of its counterpart, a process referred to as semiconservative replication. As a result of semi-conservative rep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cell Division
Cell division is the process by which a parent cell (biology), cell divides into two daughter cells. Cell division usually occurs as part of a larger cell cycle in which the cell grows and replicates its chromosome(s) before dividing. In eukaryotes, there are two distinct types of cell division: a vegetative division (mitosis), producing daughter cells genetically identical to the parent cell, and a cell division that produces Haploidisation, haploid gametes for sexual reproduction (meiosis), reducing the number of chromosomes from two of each type in the diploid parent cell to one of each type in the daughter cells. In cell biology, mitosis (Help:IPA/English, /maɪˈtoʊsɪs/) is a part of the cell cycle, in which, replicated chromosomes are separated into two new Cell nucleus, nuclei. Cell division gives rise to genetically identical cells in which the total number of chromosomes is maintained. In general, mitosis (division of the nucleus) is preceded by the S stage of interph ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Family
Family (from la, familia) is a Social group, group of people related either by consanguinity (by recognized birth) or Affinity (law), affinity (by marriage or other relationship). The purpose of the family is to maintain the well-being of its members and of society. Ideally, families offer predictability, structure, and safety as members mature and learn to participate in the community. Historically, most human societies use family as the primary locus of Attachment theory, attachment, nurturance, and socialization. Anthropologists classify most family organizations as Matrifocal family, matrifocal (a mother and her children), patrifocal (a father and his children), wikt:conjugal, conjugal (a wife, her husband, and children, also called the nuclear family), avuncular (a man, his sister, and her children), or Extended family, extended (in addition to parents and children, may include grandparents, aunts, uncles, or cousins). The field of genealogy aims to trace family lineages ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of Utah Health
A university () is an institution of higher (or tertiary) education and research which awards academic degrees in several academic disciplines. ''University'' is derived from the Latin phrase ''universitas magistrorum et scholarium'', which roughly means "community of teachers and scholars". Universities typically offer both undergraduate and postgraduate programs. The first universities in Europe were established by Catholic Church monks. The University of Bologna (), Italy, which was founded in 1088, is the first university in the sense of: *being a high degree-awarding institute. *using the word ''universitas'' (which was coined at its foundation). *having independence from the ecclesiastic schools and issuing secular as well as non-secular degrees (with teaching conducted by both clergy and non-clergy): grammar, rhetoric, logic, theology, canon law, notarial law.Hunt Janin: "The university in medieval life, 1179–1499", McFarland, 2008, , p. 55f.de Ridder-Symoens, Hilde''A ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cri-du-chat Syndrome
Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Its name is a French term ("cat-cry" or " call of the cat") referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio. Signs and symptoms The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a meowing kitten, due to problems with the larynx and nervous system. About one third of children lose the cry by age of 2 years. Other symptoms of cri du chat syndrome may include: * feeding problems because of difficulty in swallowing and sucking; * mutism; * low birth weight and poor growth; * severe cognitive, speech and motor disabilities; * behavioural problems such as hyperactivity, aggression, outbursts and repetitive movements; * unusual facial fe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
1p36 Deletion Syndrome
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion. The condition is caused by a genetic deletion (loss of a segment of DNA) on the outermost band on the short arm (p) of chromosome 1. It is one of the most common deletion syndromes. It is estimated that the syndrome occurs in one in every 5,000 to 10,000 births. Signs and symptoms There are a number of signs and symptoms characteristic of monosomy 1p36, but no one individual will display all of the possible features. In general, children will exhibit failure to thrive and global delays. Developmental and behavioral Most young children with 1p36 deletion syndrome have delayed development of speech and motor skills. Speech is severely affected, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cancer Syndromes
A cancer syndrome, or family cancer syndrome, is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancers and may also cause the early onset of these cancers. Cancer syndromes often show not only a high lifetime risk of developing cancer, but also the development of multiple independent primary tumors. Many of these syndromes are caused by mutations in tumor suppressor genes, genes that are involved in protecting the cell from turning cancerous. Other genes that may be affected are DNA repair genes, oncogenes and genes involved in the production of blood vessels ( angiogenesis). Common examples of inherited cancer syndromes are hereditary breast-ovarian cancer syndrome and hereditary non-polyposis colon cancer (Lynch syndrome). Background Hereditary cancer syndromes underlie 5 to 10% of all cancers and there are over 50 identifiable hereditary forms of cancer. Scientific understanding of cancer ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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