A McLeod phenotype detected by random screening for K:-4 [Kp(b-)] blood donors in Brazil

Transfusion

Volumn 44, Issue 11, 2004, Pages 1579-1587

  Wendel, Silvano ^a   Fontão Wendel, Rita ^a   Levi, José Eduardo ^a   Aravechia, Maria Giselda ^a   Bordokan, Roberta F S ^a   Russo, David ^a   Haddad, Monica Santoro ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ANTIGEN EXPRESSION; ARTICLE; BLOOD DONOR; BLOOD GROUP KELL SYSTEM; CASE REPORT; DNA FLANKING REGION; DNA SEQUENCE; EXON; FLOW CYTOMETRY; GENE DELETION; HETEROZYGOTE DETECTION; HUMAN; HYPERTRANSLUCENT LUNG; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREDICTION; SCREENING TEST;

ADULT; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; ANTIGENS, BACTERIAL; ANTIGENS, SURFACE; BASE SEQUENCE; BLOOD DONORS; BLOTTING, WESTERN; BRAZIL; DNA; ERYTHROCYTES; FEMALE; FLOW CYTOMETRY; GENE DELETION; GENOTYPE; HUMANS; KELL BLOOD-GROUP SYSTEM; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 7244256221     PISSN: 00411132     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1537-2995.2004.03259.x     Document Type: Article

References (41)

1. Allen FH, Krabbe SMR, Corcoran PA. A new phenotype (McLeod) in the Kell blood-group system. Vox Sang 1961;6:555-60.
2. Redman CM, Avellino G, Pfeffer SR, et al. Kell Blood group antigens are part of a 93,000-dalton red cell membrane protein. J Biol Chem 1986;261:9521-5.
3. Redman CM, Marsh WL, Scarborough A, et al. Biochemical studies on McLeod phenotype red cells and isolation of Kx antigen. Br J Haematol 1988;68:131-6.
4. Branch DR, Sy Siok Hian AL, Petz LD. Unmasking of Kx antigen by reduction of disulphide bonds on normal and Mcleod red cells. Br J Haematol 1985;59:505-12.
5. Khamlichi S, Bailly P, Blanchard D, et al. Purification and partial characterization of the erythrocyte Kx protein deficient in McLeod patients. Eur J Biochem 1995;228:931-4.
6. Russo D, Redman C, Lee S. Association of XK and Kell blood group proteins. J Biol Chem 1998;273:13950-6.
7. Francke U, Ochs HD, de Martinville B, et al. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinis pigmentosa, and McLeod syndrome. Am J Hum Genet 1985;37:250-67.
8. Lee S, Zambas ED, Marsh WL, et al. The human Kell blood group gene maps to chromosome 7q33 and its expression is restricted to erythroid cells. Blood 1993;81:2804-9.
9. Ho MF, Chelly J, Carter N, et al. Isolation of the gene for McLeod syndrome that encodes a novel membrane trans-port protein. Cell 1994;77:869-80.
10. Witt TN, Danek A, Reiter M, et al. McLeod syndrome: a distinct form of neuroacanthocytosis. J Neurol 1992;239:302-6.
11. Wimer BM, Marsh WL, Taswell HF, et al. Haematological changes associated with the McLeod phenotype of the Kell blood group system. Br J Haematol 1977;36:219-24.
12. Hardie RJ, Pullon HWH, Harding A, et al. Neuroacanthocytosis: a clinical, haematological and pathological study of 19 cases. Brain 1991;114:13-49.
13. Marsh WL. Deleted antigens of the Rhesus and Kell blood groups: association with cell membrane defects. In: Garraty G, ed. Blood group antigens and disease. Arlington: American Association of Blood Banks, 1983:165-85.
14. Marsh WL, Øyen R, Nichols ME, et al. Chronic granulomatous disease and the Kell Blood groups. Br J Haematol 1975;29:247-62.
15. Bertelson CJ, Pogo AO, Chaudhuri A, et al. Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am J Hum Genet 1988;42:703-11.
16. Bridges RA, Berendes H, Good RA. A fatal granulomatous disease of childhood, the clinical, pathological and laboratory features of a new syndrome. Am J Dis Child 1959;97:387-408.
17. White W, Washington ED, Sabo BH. Anti-Km in a transfused man with McLeod syndrome. Revue Française Transfusion Immuno-Hématologie 1980;23:305-17.
18. Russo DC, Øyen R, Powell VI, et al. First example of anti-Kx in a person with the McLeod phenotype and without chronic granulomatous disease. Transf Med Rev 2000;40:1371-5.
19. Lyon MF. Gene action in the X-chromosome of the mouse (Mus muscular L). Nature 1961;190:372-3.
20. Ho MF, Chalmers RM, Davis MB, et al. A novel point mutation in the McLeod syndrome gene in neuroacantocytosis. Ann Neurol 1996;39:672-5.
21. Wendel S, Otto PA, Aravechia MG, Frequency of blood group alleles from ABO, Kell and Duffy in a large population sample of São Paulo (abstract). Brazil Rev Paul Med 1992;110(Suppl):31.
22. Technical manual, 11th ed. Bethesda, Maryland: American Association of Blood Banks, 1993:612-8.
23. Lee S, Wu X, Reid M, Zelinski T, et al. Molecular basis of the Kell (K1) phenotype. Blood 1995;85:912-6.
24. Lee S, Wu S, Son S, et al. Point mutations charaterize KEL10, the KEL3, KEL4 and KEL21 alleles, and KEL17 and KEL11 alleles. Transfusion 1996;36:490-4.
25. Russo DC, Lee S, Reid M, et al. Point mutation causing the McLeod phenotype. Transfusion 2002;42:287-93.
26. Issit PD, Anstee DJ. The Kell and Xk blood group systems. In: Applied blood group serology. 4th ed. Miami: Montogmery Scientific Publications, 1998:609-48.
27. Øyen R, Halverson GR, Reid ME. Review: conditions causing weak expression of Kell system antigens. Immunohematology 1997;13:75-9.
28. Øyen R, Reid ME, Rubenstein P, et al. A method to detect McLeod phenotype red blood cells. Immunohematology 1996:;12:160-3.
29. Frey D, Machler M, Seger R, et al. Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus. Blood 1988;71:252-5.
30. De Saint-Basile G, Bohler MC, Fischer A, et al. Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa and McLeod pheotype. Hum Genet 1988;80:85-9.
31. El Nemer W, Colin Y, Collec E, et al. Analysis of deletions in three McLeod patients; exclusion of the XS locus from the Xp21,1-Xp21,2 region. Eur J Immunogenet 2000;27:29-33.
32. Hanaoka N, Yoshida K, Nakamura A, et al. A novel frameshift mutation in the Mcleod syndrome gene in a Japanese family. J Neurol Sci 1999;165:6-9.
33. Ueyama H, Kumamoto T, Nagao S, et al. A novel mutation of the McLeod syndrome gene in a Japanese family. J Neurol Sci 2000;176:151-4.
34. Danek A, Rubio JP, Rampoldi L, et al. McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 2001;50:755-64.
35. Dotti MT, Battisti C, Malandrini A, et al. McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene. Movement Disorders 2000;15:1282-4.
36. Jung HH, Hergesberg M, Kneifel S, et al. McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. Ann Neurol 2001;49:384-92.
37. Supple SG, Iland HJ, Barnett MH, et al. A spontaneous novel XK gene mutation in a patient with McLeod syndrome. Br J Haematol 2001;115:369-72.
38. Jung HH, Hergersberg M, Gogt M, et al. McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement. Transfusion 2003;43:928-38.
39. Daniels GL, Weinauer F, Stone C, et al. A combination of the effects of rare genotypes at the XK and KEL blood group loci results in absence of Kell system antigens from the red blood cells. Blood 1996;88:4045-50.
40. Walpole H. Horace Walpole's Correspondence (New Haven, 1937), Edited by Wilmarth Sheldon Lewis (http:// livingheritage.org/three_princes.htm).
41. Diretrizes E. Normas Regulamentadoras de Pesquisas Envolvendo Seres Humanos - Conselho National de Saúde - Resolução 196/96. Brasilia, Brazil, 1997.