Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles

Human Genetics

Volumn 99, Issue 4, 1997, Pages 488-497

  Levo, Antti ^a   Partanen, Jukka ^a  

^a FINNISH RED CROSS BLOOD SERVICE   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

ARTICLE; CHROMOSOME 6P; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; FINLAND; GENE FREQUENCY; GENE MUTATION; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; POPULATION GENETICS; PRIORITY JOURNAL; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; FINLAND; HAPLOTYPES; HLA ANTIGENS; HUMANS; MUTATION; STEROID 21-HYDROXYLASE;

EID: 0030901649     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050394     Document Type: Article

References (62)

1. Abbal M, Cuccia Belvedere M, Livieri C, De Paoli F, Martinetti M, Severi F, Cambon-Thomsen A (1988) Italian extended haplotypes in congenital adrenal hyperplasia. Tissue Antigens 32: 17-23
2. Alper CA, Awdeh Z, Yunis EJ (1992) Conserved, extended MHC haplotypes. Exp Clin Immunogenet 9:58-71
3. Amor M, Parker KL, Globerman H, New MI, White PC (1988) Mutation in the CYP21B gene (Ile-172(Asn) causes steroid 21-hydroxylase deficiency. Proc Natl Acad Sci USA 85:1600-1604
4. Barbat B, Bogyo A, Raux-Demay M-C, Kuttenn F, Boué J, Simon-Bouy B, Serre J-L, et al (1995) Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency. Hum Mutat 5:126-130
5. Campbell RD, Trowsdale J (1993) Map of the human MHC. Immunol Today 14:349-352
6. Carrera P, Bordone L, Brunelli VL, Forest MG, Chiumello G, Ferrari M (1995) Distribution of point mutations and correlation with phenotype in 73 Italian patients presenting with 21-hydroxylase deficiency. Paper presented at the Symposium on Adrenal Hyperplasia, Baltimore, Maryland, June 11-13
7. Chu X, Braun-Heimer L, Rittner L, Schneider PM (1992) Identification of the recombination site within the steroid 21-hydroxylase gene (CYP21) of the HLA-B47,DR7 haplotype. Exp Clin Immunogenet 9:80-85
8. Collier S, Sinnot PJ, Dyer PA, Price DA, Harris R, Strachan T (1989) Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes. EMBO J 8:1393-1402
9. Collier S, Tassabehji M, Strachan T (1992) A method for specific amplification and PCR sequencing of individual members of multigene families: application to the study of steroid 21-hydroxylase deficiency. PCR Methods Appl 1:181-186
10. de la Chapelle A (1993) Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 30:857-865
11. Dondi E, Cuccia M, Keller E, Martinett M, Larizza D, Albert ED (1994) Molecular analysis of CYP21 gene mutations carried on HLA-B14 positive haplotypes. Eur J Immunogenet 21:341-350
12. Donohoue PA, Dop C van, McLean RH, White PC, Jospe N, Migeon CJ (1986) Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein. J Clin Endocrinol Metab 62:995-1002
13. Donohoue PA, Jospe N, Migeon CJ, Dop C Van (1989) Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B. Genomics 5: 397-406
14. Donohoue PA, Guethlein L, Collins MM, Dop C Van, Migeon CJ, Bias WB, Schmeckpeper BJ (1995) The HLA-A3,Cw6, B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region. Tissue Antigens 46:163-172
15. Dupont B, Oberfield SE, Smithwick EM, Lee TD, Levine LS (1977) Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet ii: 1309-1312
16. Evgrafov OV, Polyakov AV, Dzenis IG, Baharev VA (1995) Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia. Hum Mutat 5:131-136
17. Ezquieta B, Oliver A, Gracia R, Gancedo PG (1995) Analysis of steroid 21-hydroxylase gene mutations in the Spanish population. Hum Genet 96:198-204
18. Fleischnick E, Awdeh ZL, Raum D, Granados J, Alosco SM, Criegler JF Jr, Gerald PS, et al (1983) Extended MHC haplotypes in 21-hydroxylase-deficiency congenital adrenal hyperplasia: shared genotypes in unrelated patients. Lancet i: 152-156
19. Helmberg A, Tabarelli M, Fuchs MA, Keller E, Dobler G, Schnegg I, Knorr D, et al (1992a) Identification of molecular defects causing congenital adrenal hyperplasia by cloning and differential hybridization of polymerase chain reaction-amplified 21-hydroxylase (CYP21) genes. DNA Cell Biol 11:359-368
20. Helmberg A, Tusié-Luna M-T, Tabarelli M, Kofler R, White PC (19925) R339 and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. Mol Endocrinol 6:1318-1322
21. Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y (1986) Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc Natl Acad Sci USA 83: 2841-2845
22. Higashi Y, Tanae A, Inoue H, Fujii-Kuriyama Y (1988) Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency. Am J Hum Genet 42:17-25
23. Higashi Y, Hiromasa T, Tanae A, Miki T, Nakura J, Kondo T, Ohura T, et al (1991) Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency. J Biochem (Tokyo) 109:638-644
24. Hochberg Z, Etzioni A (1995) Genetic selection in nonclassical adrenal hyperplasia. J Clin Endocrinol Metab 80:325-326
25. Ikaheimo I, Silvennoinen-Kassinen S, Tiilikainen A (1996) HLA five-locus haplotypes in Finns. Eur J Immunogenet 23:321-328
26. Jääskeläinen J, Voutilainen R (1995) Congenital adrenal hyperplasia in Finland. Paper presented at the Symposium on Adrenal Hyperplasia, Baltimore, Maryland, June 11-13
27. Levo A, Partanen J (1996) A novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia. Hum Mutat 8 (in press)
28. Levo A, Westman P, Partanen J (1996) An approach to mapping haplotype-specific recombination sites in human MHC class III. Immunogenetics 43:136-140
29. Mattesen KJ, Phillips JA, Miller WL, Chung B-C, Orlando PJ, Frisch H, Ferrandez A, Burr IM (1987) P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia. Proc Natl Acad Sci USA:5858-5862
30. McCluskey J, Kay PH, Stuckey M, Christiansen FT, Dawkins RL, Wilson G (1983) MHC "supratype" predicting heterozygous 21-hydroxylase deficiency. Lancet i:764-765
31. Morel Y, Miller WL (1991) Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet 20:1-68
32. Morel Y, André J, Uring-Lambert B, Hauptmann G, Bétuel H, Tossi M, Forest MG, et al (1989) Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. J Clin Invest 83:527-536
33. Mornet E, Crété F, Kuttenn F, Raux-Demay M-C, Boué J, White PC, Boué A (1991) Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Am J Hum Genet 48:79-88
34. Narko K, Levo A, Partanen J (1995) A rare neutral polymorphism in 21-hydroxylase genes as HLA haplotype marker. Evidence for strong founder effect in the Finnish population. Hum Immunol 43:66-71
35. Nevanlinna HR (1972) The Finnish population structure. A genetic and genealogical study. Hereditas 71:195-236
36. Norio R, Nevanlinna HR, Perheentupa J (1973) Hereditary diseases in Finland; rare flora in rare soil. Ann Clin Res 5:109-141
37. Pang S, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon ICT, Dobbins RH, Kling S, Fujieda K, Suwa S (1988) Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 81:866-874
38. Partanen J, Campbell RD (1991) Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia. Hum Genet 87:716-720
39. Partanen J, Kere J, Wessberg S, Koskimies S (1989a) Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field electrophoresis. Genomics 5:345-349
40. Partanen J, Koskimies S, Sipilä I, Lipsanen V (1989b) Major-histocompatibility-complex gene markers and RFLP analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population. Am J Hum Genet 44:660-670
41. Pollack MS, New MI, O'Neill GJ, Levine LS, Callaway C, Pang S, Cacciari E, et al (1981) HLA genotypes and HLA-linked genetic markers in Italian patients with classical 21-hydroxylase deficiency. Hum Genet 58:331-337
42. Sajantila A, Lahermo P, Anttinen T, Lukka M, Sistonen P, Savontaus M-L, Aula P, et al (1995) Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res 5:42-52
43. Schneider PM, Carrol MC, Alper CA, Rittner C, Whitehead A, Yunis EJ, Colten HR (1986) Polymorphism of the human complement C4 and steroid 21-hydroxylase genes: restriction fragment length polymorphisms revealing structural deletions, homoduplications and size variants. J Clin Invest 78:650-657
44. Sinnot PJ, Costigan C, Dyer PA, Harris R, Strachan T (1991) Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families. Hum Genet 87:361-366
45. Sinnot PJ, Livieri C, Sampietro M, Marconi M, Harris R, Severi F, Strachan T (1992) CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families. Hum Genet 88:545-551
46. Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI (1985) High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 37:650-667
47. Speiser PW, New MI, White PC (1988) Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1. New Engl J Med 319:19-23
48. Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusié-Luna M-T, Lesser M, et al (1992a) Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 90:584-595
49. Speiser PW, New MI, Tannin GM, Pickering D, Yang SY, White PC (1992b) Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Genet 88:647-648
50. TajimaT, Fujieda K, Nakayama K, Fujii-Kuriyama Y (1993) Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism. J Clin Invest 92:2182-2190
51. Tusié-Luna M-T, White PC (1995) Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms. Proc Natl Acad Sci USA 92:10796-10800
52. Wedell A, Luthman H (1993a) Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene. Hum Genet 91:236-240
53. Wedell A, Luthman H (1993b) Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations. Hum Mol Genet 2: 499-504
54. Wedell A, Ritzen EM, Haglund-Stengler B, Luthman H (1992) Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. Proc Natl Acad Sci USA 89:7232-7236
55. Wedell A, Thilén A, Ritzen EM, Stengler B, Luthman H (1994) Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 78:1145-1152
56. Weiss KM (1993) Reconstructing history: the footprints of evolution. In: Weiss KM (ed) Genetic variation and human disease. Principles and evolutionary approaches. Cambridge University Press, Cambridge, pp 180-204
57. Wells G, Azziz R (1990) Late onset adrenal hyperplasia: mutation at codon 282 of the functional 21-hydroxylase gene is not ubiquitous. Fertil Steril 54:819-823
58. Westman P, Kuismin T, Partanen J, Koskimies S (1993) An HLA-DR typing protocol using group-specific PCR-amplification followed by restriction enzyme digests. Eur J Immunogenet 20:103-109
59. White PC, New MI, Dupont B (1987) Congenital adrenal hyperplasia. N Engl J Med 316:1519-1524
60. White PC, Vitek A, Dupont B, New MI (1988) Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc Natl Acad Sci USA 85:4436-4440
61. White PC, Tusié-Luna M-T, New MI, Speiser PW (1994) Mutations in steroid 21-hydroxylase (CYP21). Hum Mutat 3:373-378
62. Wilson RC, Wei J-Q, Cheng KC, Mercado AB, New MI (1995) Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene. J Clin Endocrinol Metab 80:1635-1640