Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients

Journal of Korean Medical Science

Volumn 19, Issue 2, 2004, Pages 218-222

  Oh, Heung Bum ^a   Park, Joon Seok ^a   Lee, Woochang ^a   Yoo, Soo Jin ^a   Yang, Jin Hyuk ^a   Oh, Sun Young ^b  

^a University of Ulsan College of Medicine   (South Korea)

^b Seoul National University   (South Korea)

Author keywords

Chronic; CYBB gene Product; Genetic Diseases; Korea; Neutrophils; X linked: Granulomatous Disease

Indexed keywords

ADULT; ARTICLE; ASIAN; CHILD; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC DISORDER; HUMAN; INFANT; KOREA; MALE; PRENATAL DIAGNOSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKED DISORDER;

EID: 2342587265     PISSN: 10118934     EISSN: None     Source Type: Journal    
DOI: 10.3346/jkms.2004.19.2.218     Document Type: Article

References (17)

1. Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical and clinical features of chronic granulomatous disease. Medicine 2000; 79: 170-200.
2. Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Curnutte J, Gallin JI, Malech HL, Holland SM, Ochs H, Quie P, Buckley RH, Foster CB, Chanock SJ, Dickler H. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine 2000; 79: 155-69.
3. Roos D. X-CGDbase: a database of X-CGD-causing mutations. Immunol Today 1996; 17: 517-21.
4. Meerhof LJ, Roos D. Heterogeneity in chronic granulomatous disease detected with an improved nitroblue tetrazolium slide test. J Leukoc Biol 1986; 39: 699-711.
5. Patino PJ, Perez JE, Lopez JA, Condino-Neto A, Grumach AS, Botero JH, Curnutte JT, Garcia de Olarte D. Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox. Hum Mutat 1999; 13: 29-37.
6. Bannai M, Tokunaga K, Lin L, Kuwata S, Mazda T, Amaki I, Fujisawa K, Juji T. Discrimination of human HLA-DRB1 alleles by PCR-SSCP (single-strand conformation polymorphism) method. Eur J Immunogenet 1994; 21: 1-9.
7. Dinauer MC, Curnutte JT, Rosen H, Orkin SH. A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. J Clin Invest 1989; 84: 2012-6.
8. Gerard B, El Benna J, Alcain F, Gougerot-Pocidalo MA, Grandchamp B, Chollet-Martin S. Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene). Hum Mutat 2001; 18: 163.
9. Curnutte JT. Chronic granulomatous disease: the solving of clinical riddle at the molecular level. Clin Immunol Immunopathol 1993; 67: 2-15.
10. Jones AM, Dodd ME, Webb AK. Burkholderia cepacia: current clinical issues, environmental controversies and ethical dilemmas. Eur Respir J 2001; 17: 295-301.
11. Rae J, Newburger PE, Dinauer MC, Noack D, Hopkins PJ, Kuruto R, Curnutte JT. X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. Am J Hum Genet 1998; 62: 1320-31.
12. de Boer M, Bolscher BG, Dinauer MC, Orkin SH, Smith CI, Ahlin A, Weening RS, Roos D. Splice site mutations are a common cause of X-linked chronic granulomatous disease. Blood 1992; 80: 1553-8.
13. Roos D. The genetic basis of chronic granulomatous disease. Immunol Rev 1994; 138: 121-57.
14. Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, Ahlin A, Nemet K, Hossle JP, Bernatowska-Matuszkiewicz E, Middleton-Price H. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 1996; 87: 1663-81.
15. Skalnik DG, Strauss EC, Orkin SH. CCAAT displacement protein as a repressor of the myelomonocytic-specific gp91-phox gene promoter. J Biol Chem 1991; 266: 16736-44.
16. Ariga T, Sakiyama Y, Furuta H, Matsumoto S. Molecular genetic studies of two families with X-linked chronic granulomatous disease: mutation analysis and definitive determination of carrier status in patients' sisters. Eur J Haematol 1994; 52: 99-102.
17. Hayashi K. PCR-SSCP: a simple and sensitive method for detection of mutation in the genomic DNA. PCR Methods Appl 1991; 1: 34-8.