Molecular typing for the Indian blood group associated 252G>C single nucleotide polymorphism in a selected cohort of Australian blood donors

Blood Transfusion

Volumn 13, Issue 1, 2015, Pages 78-85

  Lopez, Genghis H ^a   McBean, Rhiannon S ^a   Wilson, Brett ^a   Irwin, Darryl L ^b   Liew, Yew Wah ^a   Hyland, Catherine A ^a   Flower, Robert L ^a  

^a AUSTRALIAN RED CROSS BLOOD SERVICE   (Australia)

^b Sequenom Inc Asia Pacific   (Australia)

Author keywords

High resolution melting analysis; Indian blood group genotyping; MALDI TOF MS

Indexed keywords

BLOOD GROUP ANTIGEN; IN A ANTIGEN; IN B ANTIGEN; UNCLASSIFIED DRUG; CD44 PROTEIN, HUMAN; HERMES ANTIGEN;

AMPLICON; ANTIGEN ANTIBODY REACTION; ARTICLE; AUSTRALIAN; BLOOD DONOR; BLOOD GROUP; BLOOD SAMPLING; COHORT ANALYSIS; CONTROLLED STUDY; ERYTHROCYTE; FLOW CYTOMETRY; GENE FREQUENCY; GENOTYPE; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; INDIAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MOLECULAR TYPING; NUCLEOTIDE SEQUENCE; PHENOTYPE; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; ALLELE; AUSTRALIA; FEMALE; GENETICS; GENOTYPING TECHNIQUE; MALE;

ALLELES; ANTIGENS, CD44; AUSTRALIA; BLOOD DONORS; COHORT STUDIES; FEMALE; GENE FREQUENCY; GENOTYPING TECHNIQUES; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84922311126     PISSN: 17232007     EISSN: None     Source Type: Journal    
DOI: 10.2450/2014.0336-13     Document Type: Article

References (33)

1. Screaton GR, Bell M V, Jackson DG, et al. Genomic structure of DNA encoding the lymphocyte homing receptor CD44 reveals at least 12 alternatively spliced exons. Proc Natl Acad Sci USA 1992;89:12160-4.
2. rd ed. Oxford, UK: Wiley-Blackwell Publishing 2013.
3. Tolg C, Hofmann M, Herrlich P, Ponta H. Splicing choice from ten variant exons establishes CD44 variability. Nucleic Acids Res 1993;21:1225-9.
4. rd ed. Elsevier Academic Press; 2012.
5. Spring FA, Dalchau R, Daniels GL, et al. The Ina and Inb blood group antigens are located on a glycoprotein of 80, 000 MW (the CDw44 glycoprotein) whose expression is influenced by the In (Lu) gene. Immunology 1988;64:37-43.
6. Badakere SS, Joshi SR, Bhatia HM, et al. Evidence for a new blood group antigen in the Indian population (a preliminary report). Indian J Med Res 1973;61:563.
7. Badakere SS, Parab BB, Bhatia HM. Further observations on the Ina (Indian) antigen in Indian populations. Vox Sang 1974;26:400-3.
8. Giles CM. Antithetical relationship of anti-In-a with the Salis antibody. Vox Sang 1975;29:73-6.
9. Poole J, Tilley L, Warke N, et al. Two missense mutations in the CD44 gene encode two new antigens of the Indian blood group system. Transfusion 2007;47:1306-11.
10. Telen MJ, Udani M, Washington MK, et al. A blood grouprelated polymorphism of CD44 abolishes a hyaluronan-binding consensus sequence without preventing hyaluronan Bbnding. J Biol Chem 1996;271:7147-53.
11. Longster GH, North DI, Robinson EA. Four further examples of anti-Inb detected during pregnancy. Clin Lab Haematol 1981;3:351-6.
12. Bhatia H. Studies on the blood group antigen Ina. Immunol Commun 1980;9:203.
13. Ferguson D, Gaal H. Some observations on the Inb antigen and evidence that anti-Inb causes accelerated destruction of radiolabeled red cells. Transfusion 1988;28:479-82.
14. Anstee DJ. Red cell genotyping and the future of pretransfusion testing. Blood 2009;114:248-56.
15. Joshi SR. Immediate haemolytic transfusion reaction due to anti-Inb. Vox Sang 1992;63:232-3.
16. Badakere SS, Vasantha K, Bhatia HM, et al. High frequency of Ina antigen among Iranians and Arabs. Hum Hered 1980;30:262-3.
17. Bhatia HM, Badakere SS, Mokashi SA, Parab BB. Studies on the blood group antigen Ina. Immunol Commun 1980;9:203-15.
18. Montgomery J, Wittwer CT, Palais R, Zhou L. Simultaneous mutation scanning and genotyping by high-resolution DNA melting analysis. Nat Protoc 2007;2:59-66.
19. Liew M, Pryor R, Palais R, et al. Genotyping of singlenucleotide polymorphisms by high-resolution melting of small amplicons. Clin Chem 2004;50:1156-64.
20. Reed GH, Kent JO, Wittwer CT. High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 2007;8:597-608.
21. Zhou L, Myers AN, Vandersteen JG, et al. Closed-tube genotyping with unlabeled oligonucleotide probes and a saturating DNA dye. Clin Chem 2004;50:1328-35.
22. Erali M, Voelkerding KV, Wittwer CT. High resolution melting applications for clinical laboratory medicine. Exp Mol Pathol 2008;85:50-8.
23. Liew M, Seipp M, Durtschi J, et al. Closed-tube SNP genotyping without labeled probes/a comparison between unlabeled probe and amplicon melting. Am J Clin Pathol 2007;127:341-8.
24. Dames S, Margraf RL, Pattison DC, et al. Characterization of aberrant melting peaks in unlabeled probe assays. J Mol Diagn 2007;9:290-6.
25. Sauer S, Gut IG. Genotyping single-nucleotide polymorphisms by matrix-assisted laser-desorption/ionization time-of-flight mass spectrometry. J Chromatogr B 2002;782:73-87.
26. Tost J, Gut IG. Genotyping single nucleotide polymorphisms by MALDI mass spectrometry in clinical applications. Clin Biochem 2005;38:335-50.
27. Garritsen HS, Fan AX, Bosse N, et al. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry for genotyping of human platelet-specific antigens. Transfusion 2009;49:252-8.
28. Tanaka M, Takahahi J, Hirayama F, Tani Y. High-resolution melting analysis for genotyping Duffy, Kidd and Diego blood group antigens. Leg Med (Tokyo) 2011;13:1-6.
29. Jungbauer C, Hobel CM, Schwartz DW, Mayr WR. Highthroughput multiplex PCR genotyping for 35 red blood cell antigens in blood donors. Vo x Sang 2012;102:234-42.
30. Gassner C, Meyer S, Frey BM, Vollmert C. Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry-based blood group genotyping-the alternative approach. Transfus Med Rev 2013;27:2-9.
31. Cultural Diversity in Australia, Reflecting a Nation: Stories from the 2011 Census, Australian Bureau of Statistics. Available at: http://www.abs.gov. au. Accessed on 16/12/2013.
32. Joshi SR, Vasantha K. A profile of rare bloods in India and its impact in blood transfusion service. Asian J Transfus Sci 2012;6:42-3.
33. Reid ME. DNA analysis to find rare blood donors when antisera is not available. Vox Sang 2002;83(Suppl 1):91-3.