Single-nucleotide polymorphisms in intron 2 of CYP2IP: Evidence for a higher rate of mutation at CpG dinucleotides in the functional steroid 21- hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia

Clinical Chemistry

Volumn 45, Issue 5, 1999, Pages 625-629

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

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; DIAGNOSTIC VALUE; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; SEGREGATION ANALYSIS;

EID: 0032920031     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/45.5.625     Document Type: Article

References (18)

1. 1. 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.
2. 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. 3. Burch GH, Gong Y, Liu W, Dettman RW, Curry CJ, Smith L, et al. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat Genet 1997;17:104-8.
4. 4. Pang S. Congenital adrenal hyperplasia. Endocrinol Metab Clin N Am 1997;26:853-91.
5. 5. Donohoue PA, Parker K, Migeon CJ. Congenital adrenal hyperplasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease, 7th ed. New York: McGraw-Hill, 1995:2929-66.
6. 6. Killeen AA, Jiddou RR, Sane KS. Characterization of frequent polymorphisms in intron 2 of CYP21: application to segregation analysis of CYP21 alleles. Clin Chem 1998;12:2410-5.
7. 7. Cooper DN, Youssoufian H. The CpG dinucleotide and human disease. Hum Genet 1988;78:151-5.
8. 8. Cooper D, Krawczak M. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Goner 1990;85:55-74.
9. 9. White PC, Tusie-Luna M-T, New MI, Speiser PW. Mutations in steroid 21-hydroxylase (CYP21). Hum Mutat 1994;3:373-8.
10. 10. Wei W-L, Killeen AA. Analysis of 4 common salt-wasting mutations in CYP21 (steroid 21-hydroxylase) by cleavase fragment length polymorphism analysis, and characterization of a frequent polymorphism in intron 6. Mol Diagn 1998;3:171-8.
11. 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. 12. Zhao LP, Aragaki C, Hsu L, Quiaoit F. Mapping of complex traits by single-nucleotide polymorphisms. Am J Hum Genet 1998;63: 225-40.
13. 13. Collins FS, Patrinos A, Jordan E, Chakravarti A, Gesteland R, Walters L. New goals for the U.S. human genome project: 1998-2003. Science 1998;282:682-9.
14. 14. White PC, Vitek A, Dupont B, New MI. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc Natl Acad Sci U S A 1988;85:4436-40.
15. 15. Morel Y, Andre J, Uring-Lambert B, Hauptman G, Betuel H, Tosi M, et al. Rearrangements and point mutations of the p450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. J Clin Investig 1989;83:527-36.
16. 16. Fielder AHL, Walport MJ, Batchelor JR, Rynes RI, Black CM, Dodi IA, Hughes GRV. Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of null alleles of C4A and C4B in determining disease susceptibility. Br Med J 1983;286:425-8.
17. 17. 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.
18. 18. Ramsden SC, Sinnott PJ. Characterization of gene rearrangements and gene conversion events in the 21-hydroxylase gone. In: Elles R, ed. Methods in molecular medicine: molecular diagnosis of genetic disease. Totowa, NJ: Humana Press, 1996:121-40.