Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system

Prenatal Diagnosis

Volumn 23, Issue 13, 2003, Pages 1092-1096

  Chien, Shu Chin ^a   Lee, Chien Nan ^a   Hung, Chia Cheng ^b   Tsao, Po Nien ^a   Su, Yi Ning ^a   Hsieh, Fon Jou ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

Amniocentesis; Chronic granulomatous disease (CGD); Denaturing high performance liquid chromatography (DHPLC); Mutation analysis

Indexed keywords

AMNIOCENTESIS; ARTICLE; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA DETERMINATION; DNA SEQUENCE; FETUS; FETUS KARYOTYPING; GENE MUTATION; HUMAN; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; X CHROMOSOME LINKED DISORDER;

AMNIOCENTESIS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOMES, HUMAN, X; DIAGNOSIS, DIFFERENTIAL; DNA; DNA PRIMERS; FEMALE; FETUS; GENETIC COUNSELING; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; KARYOTYPING; LINKAGE (GENETICS); MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NADPH OXIDASE; NUCLEIC ACID DENATURATION; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TRIMESTER, SECOND;

EID: 0347089081     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.761     Document Type: Article

References (19)

1. Berendes H, Bridges RA, Good RA. 1957. A fetal granulomatous disease of childhood: the clinical study of a new syndrome. Minn Med 40: 309-312.
2. Bunn CF, Lintott CJ, Scott RS, George PM. 2002. Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. Hum Mutat 19: 311.
3. Candotti F. 2000. The potential for therapy of immune disorders with gene therapy. Pediatr Clin North Am. 47: 1389-1407.
4. Curnutte JT. 1992. Molecular basis of the autosomal recessive forms of chronic granulomatous disease. Immunodefic Rev 3: 149-172.
5. Harper AM, Chaplin MF, Segal AW. 1985. Cytochrome b-245 from human neutrophils is a glycoprotein. Biochem J 227: 783-788.
6. Ho CM, Vowels MR, Lockwood L, Ziegler JB. 1996. Successful bone marrow transplantation in a child with X-linked chronic granulomatous disease. Bone Marrow Transplant 18: 213-215.
7. Jones AC, Austin J, Hansen N, et al. 1999. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin Chem 45: 1133-1140.
8. Kume A, Dinauer MC. 2000. Gene therapy for chronic granulomatous disease. J Lab Clin Med 135: 122-128.
9. Mouy R, Fischer A, Vilmer E, Seger R, Griscelli C. 1989. Incidence, severity, and prevention of infections in chronic granulomatous disease. J Pediatr 114: 555-560.
10. Newburger PE, Cohen HJ, Rothchild SB, Hobbins JC, Malawista SE, Mahoney MJ. 1979. Prenatal diagnosis of chronic granulomatous disease. N Engl J Med 300: 178-181.
11. O'Donovan MC, Oefner PJ, Roberts SC, et al. 1998. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics 52: 44-49.
12. Parkos CA, Dinauer MC, Walker LE, Allen RA, Jesaitis AJ, Orkin SH. 1988. Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b. Proc Natl Acad Sci U S A 85: 3319-3323.
13. Rae J, Newburger PE, Dinauer MC, et al. 1998. X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. Am J Hum Genet 62: 1320-1331.
14. Ravnik-Glavac M, Atkinson A, Glavac D, Dean M. 2002. DHPLC screening of cystic fibrosis gene mutations. Hum Mutat 19: 374-383.
15. Roos D, de Boer M, Kuribayashi F, et al. 1996. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 87: 1663-1681.
16. Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. 2000. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 79: 170-200.
17. Seger R, Steinmann B. 1981. Prenatal diagnosis of chronic granulomatous disease: unreliability of fibroblast nitroblue tetrazolium test. Lancet 1: 1216.
18. Smith RM, Curnutte JT. 1991. Molecular basis of chronic granulomatous disease. Blood 77: 673-686.
19. Thrasher AJ, Keep NH, Wientjes F, Segal AW. 1994. Chronic granulomatous disease. Biochim Biophys Acta 1227: 1-24.