Identification of (CA/GT)(n) polymorphisms within the x-linked chronic granulomatous disease (X-CGD) gene: Utility for prenatal diagnosis

Journal of Pediatric Hematology/Oncology

Volumn 20, Issue 2, 1998, Pages 112-119

  Gorlin, Jed B ^a,b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b Memorial Blood Centers of Minnesota   (United States)

Author keywords

(CA GT)(n) polymorphism; Prenatal diagnosis; Short tandem repeat; X linked chronic granulomatous disease; X CGD

Indexed keywords

COMPLEMENTARY DNA; CYTOCHROME B558; DNA;

ARTICLE; CHORION VILLUS SAMPLING; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; FEMALE; FETUS; GENE FREQUENCY; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROSPECTIVE STUDY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TANDEM REPEAT; X CHROMOSOME LINKED DISORDER;

ALLELES; BASE SEQUENCE; DNA PRIMERS; DNA, COMPLEMENTARY; FEMALE; FETAL DISEASES; GRANULOMATOUS DISEASE, CHRONIC; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; NADPH OXIDASE; PEDIGREE; POLYMORPHISM, GENETIC; PREGNANCY; PRENATAL DIAGNOSIS; REPETITIVE SEQUENCES, NUCLEIC ACID; X CHROMOSOME;

EID: 0031948627     PISSN: 10774114     EISSN: None     Source Type: Journal    
DOI: 10.1097/00043426-199803000-00005     Document Type: Article

References (18)

1. Segal A. The NADPH oxidase and chronic granulomatous disease. Mol Med Today 1996;2:129-35.
2. Leusen J, Verhoeven A, Roos D. Interactions between the components of the human NADPH oxidase: intrigues in the phox family. J Lab Clin Med 1996;128:461-76.
3. Segal AW, Cross AR, Garcia RC, et al. Absence of cytochrome b-245 in chronic granulomatous disease. A multicenter European evaluation of its incidence and relevance. N Engl J Med 1983;308:245-50.
4. Curnutte J, Chronic granulomatous disease: the solving of a clinical riddle at the molecular level. Clin Immunol Immunopathol 1993;67:S2-15.
5. Roos D. The molecular basis of chronic granulomatous disease. In: Gupta S, Griscelli C (eds). New Concepts in Immunodeficiency Disease. Chicester, England: John Wiley & Sons, 1992:.
6. Roos D, The genetic basis of chronic granulomatous disease. Immunol Rev 1994;138:121-57.
7. Roos D, deBoer M, Kuribayashi F, et al. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 1996;87:1663-81.
8. Battat L, Francke U. Nsi I RFLP at the X-linked chronic granulomatous disease locus (CYBB). Nucl Acids Res 1989;17:3619.
9. Francke U, Ochs HD, Darras BT, et al. Origin of mutations in two families with X-linked chronic granulomatous disease. Blood 1990;76:602-6.
10. Pelham A, O'Reilly MA, Malcolm S, et al. RFLP and deletion analysis for X-linked chronic granulomatous disease using the cDNA probe: potential for improved prenatal diagnosis and carrier determination. Blood 1990;76:820-4.
11. Kwiatkowski DJ, Henske EP, Weimer K, et al. Construction of a GT polymorphism map of human chromosome 9. Genomics 1992;12: 229-40.
12. Lew PD, Southwick FS, Stossel TP, et al. A variant of chronic granulomatous disease: deficient oxidative metabolism due to a low affinity NADPH oxidase. New Engl J Med 1981;305: 1329-33.
13. Styrt B, Klempner M. Late-presenting variant of chronic granulomatous disease. Pediatr Infect Dis 1984;3:556-9.
14. Roos D, Curnutte J, Hossle J, et al. X-CGDbase: a data base of X-CGD causing mutations. Immunol Today 1997;17:517-21.
15. Lindlof M, Kere J, Ristola M, et al. A prenatal diagnosis of X-linked chronic granulomatous disease using restriction fragment length polymorphism analysis. Genomics 1987;1:87-92.
16. Feener CA, Boyce FM, Kunkel LM. Rapid detection of CA polymorphisms in cloned DNA: application to the 5′ region of the Dystrophin gene. Am J Hum Genet 1991;48:621-627.
17. Lalloz MR, McVey JH, Pattinson JK, et al. Hemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene. Lancet 1991;338:207-211.
18. Devlin B, Risch N, Roeder K. No excess of homozygosity at loci used for DNA fingerprinting. Science 1990;249:1416-20.