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Development Team Paper No. : 13 Research Methods and Fieldwork Module : 30 Blood Groups: ABO, Rh and MN systems Development Team Principal Investigator Prof. Anup Kumar Kapoor Department of Anthropology, University of Delhi Dr. P. Venkatramana Paper Coordinator Faculty of Anthropology, School of Social Sciences, IGNOU, Delhi Dr. SAA Latheef and Dr. P. Venkatramana Content Writer School of Life Sciences, Hyderabad University, Hyderabad Dr. Rashmi Sinha Content Reviewer Faculty of Anthropology, School of Social Sciences, IGNOU, Delhi 1 Blood Groups: ABO, Rh and MN systems Anthropology Description of Module Subject Name Anthropology Paper Name Research Methods and Field work Module Name/Title Blood Groups: ABO, Rh and MN systems Module Id 30 Glossary: • ABO blood group system was discovered by Karl Landsteiner in 1901 and was awarded Nobel Prize for his seminal contribution in 1930. The AB blood group was described by von Decastelo and Sturli in 1902. • ABO is a histo-blood group expressed in lymphocytes, platelets, tissue cells, endothelial cells, epithelial cells, sensory neurons, mucins secreted by exocrine glands, bone marrow and kidney. • Soluble form of ABO antigens are found in all body fluids except cerebrospinal fluid. • ABO antigen could be detected in 5-6 weeks of fetal life and adult level reach within 2-4 years. • ABO blood groups are divided into four groups i.e A, B, AB and O based on the presence and absence of antigen on RBC. ABO antigens are oligosaccharides expressed on RBC as glycoproteins and glycolipids. • Blood group A has antigen A and antibody anti-B, B blood group has antigen B and antibody anti-A, AB blood has antigens A and B and no antibodies, whereas O blood group has no antigens but contains antibodies anti-A and anti-B. • Antibodies of ABO are called natural antibodies (immunoglobulins produced by B lymphocytes of B1 type without stimulation. • Antibodies are produced in the gut after contact with bacteria and virus carrying A-like and B like antigens. • The natural antibodies belong to the class of IgM,IgG3 and IgA immunoglobulins. 2 Blood Groups: ABO, Rh and MN systems Anthropology • ABO antibodies are detected by three months and reach adult levels by 5-10 years. • Bombay blood group (oh group) named after the city in which it was first discovered by Bhende and co-workers in 1952. Bombay blood group has no antigens but has anti-A, anti-B and anti- H antibodies (IgM an IgG type). • ParaBombay blood group is characterized by weak expression of A,B, H antigens on red cells, weak reaction to antisera to A,B,H, presence of H antigen in serum and secretions. Presence of it detected at 4°C, by adsorption and elution or by anti-H lectin. Presence of it detected at 4°C, by adsorption and elution or by anti-H lectin. • ABO blood group system has six genotypes: A(AA,AO),B(BB,BO), AB and OO(Zhang et al., 2015). Bombay blood group genotype is hh (Das et al., 2011) whereas paraBombay blood group is (H), Se/Se or Se/se, or se/se. • Variations in ABO antigens were observed and were termed as subtypes.Antigen Subtypes in various blood group antigens as follows: A(A1,A2, A3,Ax,Afinn,Aend, Abantu, Am, Aw, Ay), B(B1,B2,B4, B3,BX,Bv,Bel,Bw), and O(O1, OIV ,O2, O3,O4, O5,O6 ., AB(A1B,A2B) and variants of ABO blood group system include cis-AB and B(A). • A and B in A/O and B/O are dominant, A and B in AB are codominant, O in A/O and B/O are autosomal recessive. • ABO gene (alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase) is located on q arm of chromosome 9 at position 34.2. It has seven exons and 6 introns. Exons span over 18kb of genomic DNA. The size of exons ranges from 28 to 688 bp, whereas, size of introns ranges from 554 to 12982. Of the exons such as exon 6 and 7 cover most of the coding sequence. • The ABO has three alleles A,B and O. A and B allele encode alpha 1-3-N- Acetylgalactosaminyltransferase (A-transferase) and alpha 1-3-Galactosyltransferase (designated B- transferase). • A transferase catalyze the transfer of N-acetylgalactose amine from the donor substrate uridine diphosphate N-acetyl-D-galactosamine to the fucosylated galactosyl residue of H antigen and form A antigen. B transferase catalyze the transfer of UDP-galactose to the fucosylated galactose of H antigen and form B antigen. O allele do not encode transferase for the formation of antigen due to deletion of 3 Blood Groups: ABO, Rh and MN systems Anthropology guanine at position 258 in the coding region near N- terminus of the protein, resulting frameshift generating a translational stop signal at codon 117 and this allele encodes a truncated protein lacking catalytic activity. • Fucosyl transferase 1(H gene) and 2(Secretor) genes(two variant transcripts of the geneFUT1,FUT2) are located on q arm of chromosome 19 at position 13.33, encodes proteins involved in the formation of H antigen and soluble H antigen which are required for the formation of A,B antigens and it soluble forms. These two forms vary in substrate specificity. • Non-sectors have nonsense mutation in FUT2 converting the codon for Trp143 to a translation stop codon. Mutations in FUT1 is responsible for Bombay blood group. Secretors of Bomabay phenotypes have traces of H,A or B on their RBC • A transferase sequence is referred as reference sequence and compared with B transferases or blood group subtypes. Coding sequence of O(O1) is identical to A sequence. • Rh is a largest and complex blood group system in humans with 51 antigens and 493 alleles. This blood group system was discovered by Landsteiner and Weiner in 1940. • Antigens of Rh blood group are proteins and are encoded by genes RHD and RHCE located closely on the p arm of the chromosome 1 at position 36.1. • Both RHD and RHCE genes have 10 exons, spread over 75kb DNA sequence, similar in 97% of sequence and considered to be evolved by gene duplications. RHD encode D antigen, whereas RHCE encode CE antigens in different combinations (ce, Ce, cE or CE)and also Cw(RH8),Cx(RH9) and VS(RH20) . • RhD and RhCE proteins vary in 32-35 amino acids sequence. Each protein has 12 transmembrane protein segments with internal termini and six loops extending outside RBC membrane. • D antigen is considered as more immunogenic and its absence is considered as Rh negative. • Rh associated glycoprotein(RHAG) present in RBC are essential for targeting of RhCE and RhD proteins to the membrane and mutations in RHAG cause loss of Rh antigens. • RHAG analogues such as RhBG and RhCG are found in liver, kidney, brain and skin. 4 Blood Groups: ABO, Rh and MN systems Anthropology • RHAG gene is located on p arm of chromosome 6 at position 12.3, has 10 exons and share 30% of sequence of RHD/RHCE genes. • Rh Proposed roles of RhD and RhCE proteins includes membrane integrity, transport of CO2 , whereas RhAG in ammonia transport, gas exchange across the plasma membrane and in mutated form in hereditary stomatocytosis. • For description of Rh blood group, three classifications described by Fisher and Race, Wiener and International society of blood transfusion are in usage, which are based on the assumptions of the aforementioned researchers on the inheritance of antigens. • In RHD gene more than 200 alleles were reported which are due to single nucleotide polymorphism or hybridization of RHD/RCHE. • Phylogenetically RHD alleles are categorized into four clusters namely Eurasian D cluster and African clusters: DIVa, DAU and weak D type 4 based on the allele that differ from consensus RHD allele. • Based on the phenotypic correlation with molecular variations, RHD alleles have been categorized into partial D, weak D type, DEL and non-functional alleles. • Except in some weak D types (1-3, 4/4.115,4.2(DAR),7) the risk of anti-D immunization is weak. • In partial D type some D epitopes are missing, carriers of partial D antigen produce anti-D upon exposure to normal D antigen R. RBC type as D positive. Of the six categories, DII-VII, DII and DVII are the result of extracellular amino acid substitutions, whereas, DIII-DVI are the products of RHD- CE-D hybrid alleles. • In carriers of weak D, epitopes are expressed weakly and RBC reacts with anti-D after an extended testing period in indirect antiglobulin test. • Weak expression of epitopes is due to amino acid substitutions in transmembrane or intracellular segments and cause problems in integration of protein to the RBC membrane. As of now, 80 weak D types including subtypes are found. • Except in some weak D types (1-3, 4/4.115,4.2(DAR),7) the risk of anti-D immunization is weak 5 Blood Groups: ABO, Rh and MN systems Anthropology • In Del type D, epitopes are expressed very weakly and found only when anti-D is adsorbed and eluted from RBC. This is due to RHD (K406K) allele containing C1225 nucleotide substitution in exon 9 which caluse missplicing of RNA that result in minor form of transcript for translation. • D negative haplotype is due to deletion of RHD gene. • Rhnull phenotype is due to inheritance of non-functional RHCE and RHD alleles. D an CE antigens are not expressed. Alterations in RHAG can also cause the loss of Rhd and RhCE proteins. • Cardinal features of carriers of Rhnull phenotypes are stomatocytosis, spherocytosis, increased osmotic fragility, altered phospholipid asymmetry, altered cell volume, defective cation flexes, elevated Na+/K+ ATPase activity, shortened survival of RBC in vivo and mild compensated hemolytic anemia.
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