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Alleles at a Single Gene Locus Or

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Alleles at a Single Gene Locus Or What is a system , collection & series ? Blood group System: Criteria: - Alleles at a single gene locus or - Closely linked loci so that crossing over does not occur - Follow Medenlian inheritance(independent inheritance - Most blood group genes are co dominant . Hardy-weinberg principle: G.H. Hardy and W.Weinberg developed a forrmula (p2+q2+2pq-1) where p gene frquency of D q gene frequency of d D and d are allelic form of a gene. However to use this equation certain criteria must be met 1.population should be large. 2.mating should not be there in parent or offspring. 3.there should be no migration ,no mortality in genotype to be studied. Terminology: ISBT assigns a six digit identification number to each authenticated antigen . First three digits represent the Blood group system eg:(004 for RH system) Last three digits represent Antigen specificity eg:(001 for D antigen). Thus For D antigen ISBT number is 004001 Alternatively, the system symbol followed by the antigen number may be used (e.g. KEL003 or, more usually, KEL3 as sinistral zeros may be removed). Phenotypes are represented by the system symbol, followed by a colon, followed by a list of antigens separated by commas. Those antigens shown to be absent are preceded by a minus sign (e.g. KEL:–1,2,–3,4). Genes are designated by the system symbol, followed by an asterisk, followed by the antigen number, all italicised (e.g. KEL*3). Genotypes have the system symbol, followed by an asterisk, followed by alleles or haplotypes separated by a slash, all italicised (e.g. KEL*2,3/2,4). Antigen, phenotype, gene, and genotype designations for collections are constructed in the same way. For the 700 and 901 series, 700 or 901 replaces the system symbol. Criteria of ISBT : For the establishment of new blood group systems : For an antigen to form a new blood group system it must be defined by a human alloantibody, Be an inherited character, The gene encoding it must have been identified and sequenced, and its chromosomal location known. In addition the gene must be different from, and not a closely-linked homologue of, all other genes encoding antigens of existing blood group systems For the inclusion of a new specificity in an established system : All antigens awarded an ISBT number must have been shown to be inherited and at least one of the following four criteria must be met. (1) An antithetical relationship between a new antigen and one already assigned to the system. (2) Demonstration that expression of the antigen is associated with a variation in the nucleotide sequence of the gene controlling the system. (3) Evidence, from a linkage analysis of family data, that the controlling allele is probably a newly recognized form of the pertinent gene, and supporting serological or biochemical information. (4) Demonstration that an antigen is located on a protein or glycoprotein that carries other antigens belonging to the system. It must be remembered, however, that this could result from post-translational modification of a gene product, such as glycosylation, which would not support inclusion within the system. For establishment of a blood group collection A collection must contain two or more antigens that are related serologically, biochemically, or genetically, but which do not fit the criteria required for system status. For inclusion in the 700 series (1) Incidence of <1% (2) Distinction from all other numbered low incidence antigens of the 700 series as well as those of the blood group systems and collections. (3) Demonstration of inheritance through at least 2 generations. For inclusion in the 901 series (1) Incidence of >90% (2) Distinction from all other numbered high incidence specificities. (3) Demonstration that the antigen is lacking from the red cells of at least 2 sibs, i.e. that the negative phenotype is genetically determined. Obsolete Numbers : Once a number has been allocated to a specificity, that number cannot be subsequently used for any other specificity. Consequently, if the number of a specificity becomes inappropriate, then that number becomes obsolete. Various other blood group system BLOOD GROUP SYSTEM ISBT NUMBER Diego blood group system ISBT 010 Cartwright blood group system ISBT 011 XG blood group system ISBT 012 Scianna blood group system ISBT 013 Dombrock blood group system ISBT 014 Colton blood group system ISBT 015 Chido/Rodgers Blood group system ISBT 017 Gerbich Blood group system ISBT 020 Cromer Blood group system ISBT 021 Knop Blood group system ISBT 022 Indian Blood group system ISBT 023 John Milton Hagen Blood group system ISBT 026 Diego Blood group system (ISBT 010) The Diego system consists of 21 antigens: Two pairs of antithetical antigens, Dia and Dib, Wra and Wrb, plus 17 antigens of very low frequency Since Wr antigens are linked with anion exchange like Deigo, the Wr antigens are reclassified wih Deigo system. Dia is a useful anthropological marker for Mongoloid populations. Dia represents Leu854 and Dib Pro854 in the red cell anion exchanger, band 3 or AE1 (CD233). Mutation in AE-1 results in hereditary spherocytosis, congenital acathocytosis. Most examples of anti-Dia and anti-Dib are found in association with pregnancy; both antibodies are often IgG1 + IgG3. A naturally occurring example of anti-Dia has been described but anti-Dib seems always to be immune. Anti-Dia is known to have been responsible for many cases of HDN. Wright Antigens Wra, first described by Holman in 1953 Wra and Wrb are antithetical antigens . Wra, a low incidence antigen occuring in less than 0.01 % & Wrb a high indence antigen present in more than 99.9 % of random population. All Wr(a–) subjects are Wr(b+),with the exception of those subjects who are GPA deficient. Wrb is a site of interaction between band 3 and GPA. Wra represents amino acid lys-658 and Wrb represents Glu-658 housed on the anion transporter AE-1. Antigen Wra is extremely rare,Anti-Wra reported frequently. Two types one is non RBC stimulated IgM and immune stimulated IgG. Non RBC stimulated anti-wra is found in serum of individual who never have been pregnant or receive transfusion. RBC stimulated anti-Wra is an IgG antibody which is reported to cause mild to severe HDN and transfusion reaction. Anti Wrb may be commonly found as a warm autoantibody in pt with auto immune hemolytic anaemia. Cartwright Blood group System Discovered in 1956 with observation of Yta. Two antigens: Yta with high incidence present in 99.8 % of population and Ytb a low incidence antigen present in 8% of random population. Three phenotypes : . Yt(a+b-) . Yt(a+b+) . Yt(a-b+) The Yt antigens are located on anticholinesterase, an enzyme involved in neurotranmission. Yta and Ytb Antigens are inherited as co-dominant alleles on chr-7. Yta antigen is not develoed at birth, cord blood is usually negative but it is strongly immunogenic however Ytb antigen is well developed at birth but poorly immunogenic. Both Yta and Ytb are IgG antibodies mostly of IgG1 and IgG4 subclass. Yt antibodies are reactive in IAT and associated with transfusion reaction. The XG Blood group system (ISBT 012) Discovered in 1962. Only Xga antigen identified with no known antithetical partner. XG phenotype: Either Xg(a+) or Xg(a-) Xga is represented as XG1 in ISBT. Gene that encode Xg allele is located on short arm of X-chromosome, so gender difference in frequency of Xg antigen expression found. Approximately 89% female population express Xga where as only 66% of male population express Xga . Anti-Xga antibodies are predominantly IgG thus reactive in IAT testing but poor immunogen so transfusion reaction or HDN not reported. CD 99 had been added to system as gene that encode CD99,MIC2 gene have been found closely linked to XG gene on short arm of x chromosome. CD99 function as recptor and cell adhesion agent in most human cells. The Sciana Blood Group system Sc system is composed of: Sc1 and Sc2 antithetical alleles Sc3 (high incidence antigen) Randin(Rd) antigen Sc1 & Sc2 Inherited as co-dominant character on chromosome 1. Sc1 is High incidence antigen(100%) while Sc2 is low incidence antigen(<1%) Anti Sc1 & Anti Sc2 are IgG and react in IAT testing.Anti Sc1 has been found to activate compliment while Anti Sc2 not. Sc3 antigen has high incidence . Sc3 expressed on RBCs carrying Sc1 &Sc2 & corresponding anti Sc3 is found in Sc null or Sc;-1- 2 phenotype. Anti Sc3 is IgG and thus react in IAT testing. Rd is well developed in cord cells and Anti-Rd found to be stimulated through pregnancy. Functional aspects Neither Anti Sc1 nor Anti Sc2 has been implicated in transfusion reaction. Anti Sc2 may cause mild HDN. Anti Sc3 has been found to cause mild transfusion reaction but not associated with HDN. Anti Rd is clinically important due to its association with HDN. The Dombrock Blood Group System (ISBT 014) Before1992, Dombrock considered as poly-morphic blood group system with two antigens, Doa(DO1) and Dob (DO2), the products of alleles. later on discovery of rare phenotype Gy(a–) Hy– Jo(a–) were also Do(a–b–) led to Gya becoming DO3 and the phenotypically and bio-chemically related antigens Hy and Joa becoming DO4 and DO5. DO is located on chromosome 12p13.Gene locus is ART4 (DO). Protein product of this gene contains an arginine-glycine-aspartic acid (RGD) motif, commonly involved in cell-to-cell interactions involving integrin binding. A single amino acid substitution within this motif results in Doa versus Dob antigenicity. All antigen of this system resides on a GPI-linked glycoprotein that resides on RBC membrane.
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