Characterization of frequent polymorphisms in intron 2 of CYP21: Application to analysis of segregation of CYP21 alleles

Clinical Chemistry

Volumn 44, Issue 12, 1998, Pages 2410-2415

  Killeen, Anthony A ^a   Jiddou, Renée R ^a   Sane, Kumud S ^b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

ADULT; ARTICLE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; DNA POLYMORPHISM; FEMALE; GENE DELETION; GENE MUTATION; GENE SEGREGATION; HUMAN; INTRON; MALE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0031678062     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/44.12.2410     Document Type: Article

References (18)

1. Dupont B, Oberfield SE, Smithwick EM, Lee TD, Levine LS. Close genetic linkage between HLA and congenital adrenal hyperplasia. Lancet 1977;ii:1309-11.
2. Higashi Y, Yoshioka H, Yamane M, Gotoh O. 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;83:2841-5.
3. White PC, New MI, Dupont B. Structure of the human steroid 21-hydroxylase genes. Proc Natl Acad Sci U S A 1986;83:5111-5.
4. Donohoue PA, Parker K, Migeon CJ. Congenital adrenal hyperplasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease, 7th ed. New York: McGraw-Hill, 1995:2929-66.
5. Pang S. Congenital adrenal hyperplasia. Endocrinol Metab Clin N Am 1997;26:853-91.
6. White PC, Tusie-Luna M-T, New MI, Speiser PW. Mutations in steroid 21-hydroxylase (CYP21). Hum Mutat 1994;3:373-8.
7. Rodrigues NR, Dunham I, Yu CY, Carroll MC, Porter RR, Campbell RD. Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. EMBO J 1987;6:1653-61.
8. Wedell A, Ritzen EM, Haglund-Stengler B, Luthman H. Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. Proc Natl Acad Sci U S A 1992;89:7232-6.
9. Bobba A, Iolascon A, Giannattasio S, Albrizio M, Sinisi A, Prisco F, et al. Characterization of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene. J Med Genet 1997;34:223-8.
10. Koppens PFJ, Hoogenboezem T, Degenhart HJ. The Pvull restriction site in the second intron of the human steroid 21-hydroxylase gene CYP21 is polymorphic. Clin Genet 1995;48:109-10.
11. Killeen AA, Seelig S, Ulstrom RA, Orr HT. Diagnosis of classical steroid 21-hydroxylase deficiency using an HLA-B locus specific probe. Am J Med Genet 1988;29:703-12.
12. Killeen AA, Sane KS, Orr HT. Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene. J Steroid Biochem Mol Biol 1991;38:677-86.
13. Day DJ, Speiser PW, White PC, Barany F. Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction. Genomics 1995;29:152-62.
14. Cooper D, Krawczak M. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet 1990;85:55-74.
15. Brow MAD, Oldenburg MC, Lyamichev V, Heisler LM, Lyamicheva N, Hall JG, et al. Differentiation of bacterial 16S rRNA genes and intergenic regions and Mycobacterium tuberculosis katG genes by structure-specific endonuclease cleavage. J Clin Microbiol 1996; 34:3129-37.
16. Ramsden SC, Sinnott PJ. Characterization of gene rearrangements and gene conversion events in the 21-hydroxylase gene. In: Elles R, ed. Methods in molecular medicine: molecular diagnosis of genetic disease. Totowa, NJ: Humana Press, 1996:121-40.
17. Oriola J, Plensa I, Machuca I, Pavia C, Rivera-Fillat F. Rapid screening method for detecting mutations in the 21-hydroxylase gene. Clin Chem 1997;43:557-61.
18. Day DJ, Speiser PW, Schulze E, Bettendorf M, Fitness J, Barany F, White PC. Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Hum Mol Genet 1996;5:2039-48.