Genotyping of CYP21A2 for congenital adrenal hyperplasia screening using allele-specific arimer extension followed by bead array hybridization

Molecular Diagnosis and Therapy

Volumn 13, Issue 6, 2009, Pages 397-405

  Oh, Yongtaek ^a,b   Park, Sung Won ^c   Chun, Sung Min ^a   Lim, Namkyoo ^d   Ahn, Ki Sup ^e   Ka, Jong Ok ^b   Jin, Dong Kyu ^c   Han, Byoung Don ^a  

^a YeBT Co LTD   (South Korea)

^b Seoul National University   (South Korea)

^c Sungkyunkwan University   (South Korea)

^d Ubioslab Co Ltd   (South Korea)

^e Baekseok Culture University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 21A2; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

ACCURACY; ALLELE; ALLELE SPECIFIC PRIMER EXTENSION; ARTICLE; BEAD ARRAY HYBRIDIZATION; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN CELL; HYBRIDIZATION; INTERMETHOD COMPARISON; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 70450245320     PISSN: 11771062     EISSN: 11792000     Source Type: Journal    
DOI: 10.1007/BF03256346     Document Type: Article

References (28)

1. White PC. Tusie-Luna MT. New Ml. et al. Mutations in steroid 21-hydro- xylase(CYP21). Hum Mutat 1994; 3: 373-378
2. White PC. Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000; 21: 245-291 (Pubitemid 32275589)
3. Krone N, Braun A, Roscher AA, et al. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. J Clin Endocrinol Metab 2000; 85: 1059-1065 (Pubitemid 32269350)
4. Liivak K. Tobi S, Schlecht H, et al. Incidence of classical 21-hydroxylase deficiency and distribution of CYP21A2 mutations in Estonia. Horm Res 2008; 69: 227-232 (Pubitemid 351562911)
5. Speiser PW, Dupont B, Rubinstein P, et al. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985; 37: 650-667 (Pubitemid 16249426)
6. White PC, New MI, Dupont B. Structure of human steroid 21-hydroxylase genes. Proc Natl Acad Sci U S A 1986; 83: 5111-5115 (Pubitemid 16051326)
7. Higashi Y, Yoshioka H, Yamane M, et al. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc Natl Acad Sci U S A 1986; 83: 2841-2845 (Pubitemid 16041759)
8. Grigorescu-Sido A, Schulze E, Grigorescu-Sido P, et al. Mutational analysis and genotype-phenotype correlation in patients with classic 21-hydroxylase deficiency from Transylvania (north-west Romania). J Pediatr Endocrinol Metab 2002; 15: 1505-1514 (Pubitemid 36024235)
9. Groschl M, Rauh M. Dorr HG. Cortisol and 17-hydroxyprogesterone kinetics in saliva after oral administration of hydrocortisone in children and young adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2002; 87: 1200-1204 (Pubitemid 36121088)
10. Kosel S, Burggraf S, Fingerhut R, et al. Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency. Clin Chem 2005; 51: 298-304 (Pubitemid 40175798)
11. Huynh T, McGown I, Cowley D, et al. The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Clin Biochem Rev 2009; 30 (2): 75-86
12. Lacey JM, Minutti CZ, Magera MJ, et al. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem 2004; 50(3): 621-625 (Pubitemid 38297314)
13. Speiser PW, White PC, Dupont J, et al. Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allelespecific hybridization. Recent Prog Horin Res 1994; 49: 367-371 (Pubitemid 24976640)
14. Mao R, Nelson L, Kates R, et al. Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions. Prenat Diagn 2002; 22: 1171-1176 (Pubitemid 36043163)
15. Asanuma A, Ohura T, Ogawa E, et al. Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency. J Hum Genet 1999; 44: 312-317 (Pubitemid 29436699)
16. Hayashi Z, Orimo H, Araki T, et al. Prenatal diagnosis of steroid 21-hydroxylase deficiency by analysis of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) profiles. Prenat Diagn 1997; 17:435-442 (Pubitemid 27212086)
17. Day DJ, Speiser PW, White PC, et al. Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction. Genomics 1995; 29: 152-162
18. Higashi Y, Tanae A, Inoue H, et al. Molecular genetic analysis of steroid 21hydroxylase [P-450(C21)] deficiency. Acta Paediatr Jpn 1998; 30 Suppl.: 105-110
19. Krone N, Braun A, Weinert S, et al. Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. Clin Chem 2002; 48: 818-825 (Pubitemid 34587580)
20. Parajes S, Quinteiro C, Dominguez F, et al. A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency. Clin Chem 2007; 53: 1577-1584 (Pubitemid 47340052)
21. Concolino P, Mello E, Toscano V, et al. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/ duplications in congenital adrenal hyperplasia: first technical report. Clin Chim Acta 2009; 402: 164-170
22. Lee YH. Park ES, Kang SH. et al. Characterization of a novel DNA polymorphism in the human CYP21 gene and application for DNA diagnosis of congenital adrenal hyperplasia. Clin Endocrinol (Oxf 2000; 53: 419-422
23. Lee HH. The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency. J Hum Genet 2004; 49: 65-72
24. Bortolin S, Black M, Modi H. et al. Analytical validation of the Tag-It high- throughput microsphere-based universal array genotyping platform: application to the multiplex detection of a panel of thrombophilia-associated single-nucleotide polymorphisms. Clin Chem 2004; 50: 2028-2036
25. Wilson RC. Nimkarn S. Dumic M, et al. Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Mol Genet Metab 2007; 90 (4): 414-421 (Pubitemid 46484429)
26. Jin DK. Kim JS. Song SM. et al. A study on the relationship between genotype and phenotype in Korean patients with congenital adrenogenital syndrome caused by 21-hydroxylase deficiency. J Korean Soc Endocrinol 2000; 15 (2): 237-247
27. White PC, Vitek A, Dupont B, et al. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc Natl Acad Sci U SA 1988; 85: 4436-4440 (Pubitemid 18177770)
28. Neocleous V, Ioannou YS, Bartsota M, et al. Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia. Clin Biochem 2009; 42: 1363-1367