Cis AB
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Cis AB
Cis AB is a type of rare mutation in the ABO gene. It happens when the transferase allele contains a mix of amino acids from either A or B alleles, producing a bifunctional enzyme that can produce both types of antigens, usually with one weaker than the other. This results in a serum test result much like the standard, separate (trans) AB phenotype, although the weaker antigen can occasionally fail to be detected. It complicates the basic inheritance pattern (as the allele comes from one parent only) and blood-transfusion compatibility matching for ABO blood typing. Different DNA mutations of either type A or Type B alleles change amino acids in enzyme transferase A or B, homologous enzymes differing in only four of 354 amino acids (R176G, G235S, L266M, and G268A). A single change in ABO gene DNA could switch type B to type A and then, a new hybrid enzyme can produce both weak B and A2 (in serum test, A2B, and A2B3). The most common mutation is an A105 allele variation in exon 7 ...
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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 ...
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Alanine
Alanine (symbol Ala or A), or α-alanine, is an α-amino acid that is used in the biosynthesis of proteins. It contains an amine group and a carboxylic acid group, both attached to the central carbon atom which also carries a methyl group side chain. Consequently, its IUPAC systematic name is 2-aminopropanoic acid, and it is classified as a nonpolar, aliphatic α-amino acid. Under biological conditions, it exists in its zwitterionic form with its amine group protonated (as −NH3+) and its carboxyl group deprotonated (as −CO2−). It is non-essential to humans as it can be synthesised metabolically and does not need to be present in the diet. It is encoded by all codons starting with GC (GCU, GCC, GCA, and GCG). The L-isomer of alanine (left-handed) is the one that is incorporated into proteins. L-alanine is second only to leucine in rate of occurrence, accounting for 7.8% of the primary structure in a sample of 1,150 proteins. The right-handed form, D-alanine, occurs in p ...
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Blood
Blood is a body fluid in the circulatory system of humans and other vertebrates that delivers necessary substances such as nutrients and oxygen to the cells, and transports metabolic waste products away from those same cells. Blood in the circulatory system is also known as ''peripheral blood'', and the blood cells it carries, ''peripheral blood cells''. Blood is composed of blood cells suspended in blood plasma. Plasma, which constitutes 55% of blood fluid, is mostly water (92% by volume), and contains proteins, glucose, mineral ions, hormones, carbon dioxide (plasma being the main medium for excretory product transportation), and blood cells themselves. Albumin is the main protein in plasma, and it functions to regulate the colloidal osmotic pressure of blood. The blood cells are mainly red blood cells (also called RBCs or erythrocytes), white blood cells (also called WBCs or leukocytes) and platelets (also called thrombocytes). The most abundant cells in vertebrate blo ...
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Sen-itiroh Hakomori
was a Japanese-American biochemist. Hakomori was born in Sendai on 13 February 1929, and graduated from Tohoku University Medical College in 1951. He elected for further study in biochemistry under Hajime Masamune. As a Fulbright Scholar, Hakomori also worked with Roger W. Jeanloz. In 1959, Hakomori began teaching at the Tohoku College of Pharmaceutical Science. Hakomori returned to the United States in 1964, again working under Jeanloz. In 1966, Hakomori joined the faculty of Brandeis University. He left Massachusetts two years later for a position at the University of Washington. Upon moving to Washington, Hakomori concurrently began work for the Fred Hutchinson Cancer Research Center and later the Pacific Northwest Research Institute. The Society for Glycobiology gave Hakomori its Karl Meyer Award in 1995. He was elected member of the Finnish Society of Sciences and Letters in 1987 and of the National Academy of Sciences in 2000. Hakomori shared the Society for Glycobiology' ...
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Bombay Phenotype
Mumbai (, ; also known as Bombay — the official name until 1995) is the capital city of the Indian state of Maharashtra and the ''de facto'' financial centre of India. According to the United Nations, as of 2018, Mumbai is the second-most populous city in India after Delhi and the eighth-most populous city in the world with a population of roughly 20 million (2 crore). As per the Indian government population census of 2011, Mumbai was the most populous city in India with an estimated city proper population of 12.5 million (1.25 crore) living under the Brihanmumbai Municipal Corporation. Mumbai is the centre of the Mumbai Metropolitan Region, the sixth most populous metropolitan area in the world with a population of over 23 million (2.3 crore). Mumbai lies on the Konkan coast on the west coast of India and has a deep natural harbour. In 2008, Mumbai was named an alpha world city. It has the highest number of millionaires and billionaires among all cities in ...
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Genotype
The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a specific gene depends on the number of copies of each chromosome found in that species, also referred to as ploidy. In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for any given gene. If both alleles are the same, the genotype is referred to as homozygous. If the alleles are different, the genotype is referred to as heterozygous. Genotype contributes to phenotype, the observable traits and characteristics in an individual or organism. The degree to which genotype affects phenotype depends on the trait. For example, the petal color in a pea plant is exclusively determined by genotype. The petals can be purple or white depending on the alleles present in the pea plant. Howev ...
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Hh Antigen System
hh, or the Bombay blood group, is a rare blood type. This blood phenotype was first discovered in Bombay by Dr. Y. M. Bhende in 1952. It is mostly found in the Indian sub-continent (India, Bangladesh Bangladesh (}, ), officially the People's Republic of Bangladesh, is a country in South Asia. It is the eighth-most populous country in the world, with a population exceeding 165 million people in an area of . Bangladesh is among the mos ..., Pakistan) and parts of Iran. Problems with blood transfusion The first person found to have the Bombay phenotype had a blood type that reacted to other blood types in a way never seen before. The serum contained antibody, antibodies that attacked all red blood cells of normal ABO phenotypes. The red blood cells appeared to lack all of the ABO blood group antigens and to have an additional antigen that was previously unknown. Individuals with the rare Bombay phenotype (hh) do not express H antigen (also called substance H), the antig ...
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American Red Cross
The American Red Cross (ARC), also known as the American National Red Cross, is a non-profit humanitarian organization that provides emergency assistance, disaster relief, and disaster preparedness education in the United States. It is the designated US affiliate of the International Federation of Red Cross and Red Crescent Societies and the United States movement to the International Red Cross and Red Crescent Movement. The organization offers services and development programs. History and organization Founders Clara Barton established the American Red Cross in Dansville, New York on May 21, 1881, and was the organization's first president. She organized a meeting on May 12 of that year at the house of Senator Omar D. Conger ( R, MI). Fifteen people were present at the meeting, including Barton, Conger and Representative William Lawrence ( R, OH) (who became the first vice president). The first local chapter was established in 1881 at the English Evangelical ...
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BGMUT
The BGMUT (Blood Group antigen gene MUTation) Database documents allelic variations in the genes encoding for human blood group systems. It was set up in 1999 through an initiative of the Human Genome Variation Society ( HGVS). Since 2006, it has been a part of the dbRBC (database Red Blood Cells) resource of NCBI at the NIH. In addition to being a repository of the genetic variations of the blood group antigen-encoding genes, the database also provides information on the blood group systems, the genes that encode them, the serological phenotypes associated with the alleles of the genes, etc. Information on genetic variations in some non-human orthologous genes is also provided. References External links * {{cite web , url = https://www.ncbi.nlm.nih.gov/gv/rbc/ , title = Blood Group Antigen Gene Mutation Database (BGMUT) , vauthors=Blumenfeld OO, Patnaik SK , date = , work = dbRBC , publisher = NCBI at the NIH The National Institutes of Health, commonly referred to as ...
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Glycine
Glycine (symbol Gly or G; ) is an amino acid that has a single hydrogen atom as its side chain. It is the simplest stable amino acid (carbamic acid is unstable), with the chemical formula NH2‐ CH2‐ COOH. Glycine is one of the proteinogenic amino acids. It is encoded by all the codons starting with GG (GGU, GGC, GGA, GGG). Glycine is integral to the formation of alpha-helices in secondary protein structure due to its compact form. For the same reason, it is the most abundant amino acid in collagen triple-helices. Glycine is also an inhibitory neurotransmitter – interference with its release within the spinal cord (such as during a ''Clostridium tetani'' infection) can cause spastic paralysis due to uninhibited muscle contraction. It is the only achiral proteinogenic amino acid. It can fit into hydrophilic or hydrophobic environments, due to its minimal side chain of only one hydrogen atom. History and etymology Glycine was discovered in 1820 by the French chemist He ...
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ABO Gene
Histo-blood group ABO system transferase is an enzyme with glycosyltransferase activity, which is encoded by the ''ABO'' gene in humans. It is ubiquitously expressed in many tissues and cell types. ABO determines the ABO blood group of an individual by modifying the oligosaccharides on cell surface glycoproteins. Variations in the sequence of the protein between individuals determine the type of modification and the blood group. The ''ABO'' gene also contains one of 27 SNPs associated with increased risk of coronary artery disease. Alleles The ''ABO'' gene resides on chromosome 9 at the band 9q34.2 and contains 7 exons. The ''ABO'' locus encodes three alleles, that is, 3 variants of the same gene. One allele is derived from each parent. The A allele produces α-1,3-N-acetylgalactosamine transferase (A-transferase), which catalyzes the transfer of GalNAc residues from the UDP-GalNAc donor nucleotide to the Gal residues of the acceptor H antigen, converting the H antigen into ...
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Nucleotide
Nucleotides are organic molecules consisting of a nucleoside and a phosphate. They serve as monomeric units of the nucleic acid polymers – deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both of which are essential biomolecules within all life-forms on Earth. Nucleotides are obtained in the diet and are also synthesized from common nutrients by the liver. Nucleotides are composed of three subunit molecules: a nucleobase, a five-carbon sugar (ribose or deoxyribose), and a phosphate group consisting of one to three phosphates. The four nucleobases in DNA are guanine, adenine, cytosine and thymine; in RNA, uracil is used in place of thymine. Nucleotides also play a central role in metabolism at a fundamental, cellular level. They provide chemical energy—in the form of the nucleoside triphosphates, adenosine triphosphate (ATP), guanosine triphosphate (GTP), cytidine triphosphate (CTP) and uridine triphosphate (UTP)—throughout the cell for the many cellular func ...
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