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Volumn 36, Issue 2, 1999, Pages 119-124

Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis

Author keywords

21 Hydroxylase deficiency; CYP21; Mutation screening

Indexed keywords

DNA MARKER; DNA POLYMERASE; HLA ANTIGEN; MICROSATELLITE DNA; STEROID 21 MONOOXYGENASE;

EID: 0033028438     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (37)

References (39)
  • 2
    • 2442736765 scopus 로고
    • Molecular genetic-analysis of non classical steroid 21-hydroxase deficiency
    • Speiser PW, Neill, MI, Parker K, White PC. Molecular genetic-analysis of non classical steroid 21-hydroxase deficiency. Clin Res 1988;36:830-8.
    • (1988) Clin Res , vol.36 , pp. 830-838
    • Speiser, P.W.1    Neill, M.I.2    Parker, K.3    White, P.C.4
  • 3
    • 0010430717 scopus 로고
    • Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man
    • Carroll MC, Campbell RD, Porter RR. Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man. Proc Natl Acad Sci USA 1985;82;521-5.
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 521-525
    • Carroll, M.C.1    Campbell, R.D.2    Porter, R.R.3
  • 4
    • 0021914293 scopus 로고
    • Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man
    • White PC, Grossberger D, Onufer BJ, et al. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc Natl Acad Sci USA 1985;82:1089-93.
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 1089-1093
    • White, P.C.1    Grossberger, D.2    Onufer, B.J.3
  • 5
    • 2442752306 scopus 로고
    • Mechanism and consequences of the duplication of the human C4/P450/c21 gene X locus
    • Gitelman SE, Bristow J, Miller WL. Mechanism and consequences of the duplication of the human C4/P450/c21 gene X locus. J Cell Biol 1992;122:265-77.
    • (1992) J Cell Biol , vol.122 , pp. 265-277
    • Gitelman, S.E.1    Bristow, J.2    Miller, W.L.3
  • 6
    • 0027231385 scopus 로고
    • Tenascin-X: A novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B
    • Bristow J, Tee MK, Gitelman SE, Mellon SH, Miller WL. Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J Cell Biol 1993;122:265-77.
    • (1993) J Cell Biol , vol.122 , pp. 265-277
    • Bristow, J.1    Tee, M.K.2    Gitelman, S.E.3    Mellon, S.H.4    Miller, W.L.5
  • 7
    • 0029834026 scopus 로고    scopus 로고
    • Alternate promoters and alternate splicing of human tenascin-X, a gene with 5' and 3' ends buried in other genes
    • Speek M, Barry F, Miller WL. Alternate promoters and alternate splicing of human tenascin-X, a gene with 5' and 3' ends buried in other genes. Hum Mol Genet 1996;5:1749-58.
    • (1996) Hum Mol Genet , vol.5 , pp. 1749-1758
    • Speek, M.1    Barry, F.2    Miller, W.L.3
  • 8
    • 0042901202 scopus 로고
    • Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene. Proc
    • Higashi Y, Yoshioko H, Yamane M, Gotoh O, Fujii-Kuriyama Y. 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 1986;83:2841-5.
    • (1986) Natl Acad Sci USA , vol.83 , pp. 2841-2845
    • Higashi, Y.1    Yoshioko, H.2    Yamane, M.3    Gotoh, O.4    Fujii-Kuriyama, Y.5
  • 9
  • 10
    • 0024350697 scopus 로고
    • Molecular genetics of congenital adrenal hyperplasia
    • Strachan T. Molecular genetics of congenital adrenal hyperplasia. Trends Endocrinol Metab 1989;1:68-72.
    • (1989) Trends Endocrinol Metab , vol.1 , pp. 68-72
    • Strachan, T.1
  • 11
    • 0027981261 scopus 로고
    • Molecular pathology of 21-hydroxylase deficiency
    • Strachan T. Molecular pathology of 21-hydroxylase deficiency. J Inherit Metab Dis 1994;17:430-41.
    • (1994) J Inherit Metab Dis , vol.17 , pp. 430-441
    • Strachan, T.1
  • 13
    • 0024316726 scopus 로고
    • 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
    • Collier S, Sinnott PJ, Dyer PA, Price DA, Harris R, Strachan T. 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 1989;8:1393-402.
    • (1989) EMBO J , vol.8 , pp. 1393-1402
    • Collier, S.1    Sinnott, P.J.2    Dyer, P.A.3    Price, D.A.4    Harris, R.5    Strachan, T.6
  • 14
    • 0025218871 scopus 로고
    • Genesis by meiotic unequal crossover of a de novo deletion that contributes to 21 -hydroxylase deficiency
    • Sinnott PJ, Collier S, Costigan C, Dyer PA, Harris R, Strachan T. Genesis by meiotic unequal crossover of a de novo deletion that contributes to 21 -hydroxylase deficiency. Proc Natl Acad Sci USA 1990;87:2107-11.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 2107-2111
    • Sinnott, P.J.1    Collier, S.2    Costigan, C.3    Dyer, P.A.4    Harris, R.5    Strachan, T.6
  • 15
    • 0028786666 scopus 로고
    • Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase) and CYP21P involve different mechanisms
    • Tusie-Luna M, White PC. Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase) and CYP21P involve different mechanisms. Proc Natl Acad Sci USA 1995;92;10796-800.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 10796-10800
    • Tusie-Luna, M.1    White, P.C.2
  • 16
    • 0027477152 scopus 로고
    • A de novo pathological point mutation at the 21-OH locus - implications for gene conversion in the human genome
    • Collier S, Tassabehji M, Strachan T. A de novo pathological point mutation at the 21-OH locus - implications for gene conversion in the human genome. Nat Genet 1993;3:260-5.
    • (1993) Nat Genet , vol.3 , pp. 260-265
    • Collier, S.1    Tassabehji, M.2    Strachan, T.3
  • 17
    • 0027172745 scopus 로고
    • A de novo pathological point mutation at the 21-OH locus - implications for gene conversion in the human genome. Correction
    • Collier S, Tassabehji M, Sinnott P, Strachan T. A de novo pathological point mutation at the 21-OH locus - implications for gene conversion in the human genome. Correction. Nat Genet 1993;4:101.
    • (1993) Nat Genet , vol.4 , pp. 101
    • Collier, S.1    Tassabehji, M.2    Sinnott, P.3    Strachan, T.4
  • 18
    • 0023915848 scopus 로고
    • Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450 (C21) gene: Implications for steroid 21-hydroxylase deficiency
    • Higashi Y, Tanae A, Inoue H, Fujii-Kuriyama Y. Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450 (C21) gene: implications for steroid 21-hydroxylase deficiency. Am J Hum Genet 1988;42:17-25.
    • (1988) Am J Hum Genet , vol.42 , pp. 17-25
    • Higashi, Y.1    Tanae, A.2    Inoue, H.3    Fujii-Kuriyama, Y.4
  • 19
    • 0028063901 scopus 로고
    • A steroid 21-hydroxylase deficiency allele carrying four disease causing mutations is not uncommon in the Swedish population
    • Wedell A, Chun X, Luthman H. A steroid 21-hydroxylase deficiency allele carrying four disease causing mutations is not uncommon in the Swedish population. Hum Genet 1994;93:204-6.
    • (1994) Hum Genet , vol.93 , pp. 204-206
    • Wedell, A.1    Chun, X.2    Luthman, H.3
  • 20
    • 0025753960 scopus 로고
    • Effects of individual mutations in the P-450 (C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency
    • Higashi Y, Hiromasa T, Tanae A, et al. Effects of individual mutations in the P-450 (C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency. J Biochem 1991;109:638-44.
    • (1991) J Biochem , vol.109 , pp. 638-644
    • Higashi, Y.1    Hiromasa, T.2    Tanae, A.3
  • 21
    • 0025895363 scopus 로고
    • Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families
    • Sinnott PJ, Costigan C, Dyer PA, Harris R, Strachan T, Ganguly R. Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families. Hum Genet 1991;87:361-6.
    • (1991) Hum Genet , vol.87 , pp. 361-366
    • Sinnott, P.J.1    Costigan, C.2    Dyer, P.A.3    Harris, R.4    Strachan, T.5    Ganguly, R.6
  • 22
    • 0026587770 scopus 로고
    • CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families
    • Sinnott PJ, Livieri C, Sampietro M, et al. CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families. Hum Genet 1992;88:545-51.
    • (1992) Hum Genet , vol.88 , pp. 545-551
    • Sinnott, P.J.1    Livieri, C.2    Sampietro, M.3
  • 23
    • 0028208951 scopus 로고
    • Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
    • Wedell A, Thilen A, Ritzen EM, Stengler B, Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 1994;78:1145-52.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 1145-1152
    • Wedell, A.1    Thilen, A.2    Ritzen, E.M.3    Stengler, B.4    Luthman, H.5
  • 25
    • 0028934494 scopus 로고
    • Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency
    • Barbat B, Bogyo A, Raux-Demay M, et al. Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency. Hum Mutat 1995;5:126-30.
    • (1995) Hum Mutat , vol.5 , pp. 126-130
    • Barbat, B.1    Bogyo, A.2    Raux-Demay, M.3
  • 26
    • 0029075631 scopus 로고
    • Analysis of steroid 21-hydroxylase gene mutations in the Spanish population
    • Ezquieta B, Oliver A, Gracia R, Gancedo PG. Analysis of steroid 21-hydroxylase gene mutations in the Spanish population. Hum Genet 1995;96:198-204.
    • (1995) Hum Genet , vol.96 , pp. 198-204
    • Ezquieta, B.1    Oliver, A.2    Gracia, R.3    Gancedo, P.G.4
  • 27
    • 0342795410 scopus 로고    scopus 로고
    • Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population
    • Tusie-Luna M, Ramirez-Jimenez S, Ordonez-Sanchez M, et al. Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population. Hum Genet 1996;98:376-9.
    • (1996) Hum Genet , vol.98 , pp. 376-379
    • Tusie-Luna, M.1    Ramirez-Jimenez, S.2    Ordonez-Sanchez, M.3
  • 28
    • 0029858384 scopus 로고    scopus 로고
    • Point mutations in Italian patients with classic, nonclassic, and cryptic forms of steroid 21-hydroxylase deficiency
    • Carrera P, Bordone L, Azzani T, et al. Point mutations in Italian patients with classic, nonclassic, and cryptic forms of steroid 21-hydroxylase deficiency. Hum Genet 1996;98: 662-5.
    • (1996) Hum Genet , vol.98 , pp. 662-665
    • Carrera, P.1    Bordone, L.2    Azzani, T.3
  • 29
    • 0030901649 scopus 로고    scopus 로고
    • Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles
    • Levo A, Partanen J. Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles. Hum Genet 1997;99:488-97.
    • (1997) Hum Genet , vol.99 , pp. 488-497
    • Levo, A.1    Partanen, J.2
  • 30
    • 0029934909 scopus 로고    scopus 로고
    • An intron 1 splice mutation and a nonsense mutation (W23X) in CYF21 causing severe congenital adrenal hyperplasia
    • Lajic S, Wedell A. An intron 1 splice mutation and a nonsense mutation (W23X) in CYF21 causing severe congenital adrenal hyperplasia. Hum Genet 1996;98:182-4.
    • (1996) Hum Genet , vol.98 , pp. 182-184
    • Lajic, S.1    Wedell, A.2
  • 32
    • 0024491536 scopus 로고
    • 21-hydroxylase deficiency families with HLA identical affected and unaffected sibs
    • Sinnott PA, Dyer PA, Price DA, Harris R, Strachan T. 21-hydroxylase deficiency families with HLA identical affected and unaffected sibs. J Med Genet 1989;26:10-17.
    • (1989) J Med Genet , vol.26 , pp. 10-17
    • Sinnott, P.A.1    Dyer, P.A.2    Price, D.A.3    Harris, R.4    Strachan, T.5
  • 33
    • 0027159735 scopus 로고
    • Steroid 21-hydroxylase deficiency: Two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
    • Wedell A, Luthman H. Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations. Hum Mol Genet 1993;2:499-504.
    • (1993) Hum Mol Genet , vol.2 , pp. 499-504
    • Wedell, A.1    Luthman, H.2
  • 34
    • 0029806142 scopus 로고    scopus 로고
    • Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees
    • Day DJ, Speiser PW, Schulze E, et al. Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Hum Mot Genet 1996;5: 2039-48.
    • (1996) Hum Mot Genet , vol.5 , pp. 2039-2048
    • Day, D.J.1    Speiser, P.W.2    Schulze, E.3
  • 35
    • 0031030506 scopus 로고    scopus 로고
    • Mapping of ten novel microsatellites in the MHC class III region: Application to the study of autoimmune disease
    • Hsieh SL, March R, Khanna A, Cross SJ, Campbell RD. Mapping of ten novel microsatellites in the MHC class III region: application to the study of autoimmune disease. J Rheumatol 1997;24:220-2.
    • (1997) J Rheumatol , vol.24 , pp. 220-222
    • Hsieh, S.L.1    March, R.2    Khanna, A.3    Cross, S.J.4    Campbell, R.D.5
  • 36
    • 0026769613 scopus 로고
    • Steroid 21-hydroxylase deficiency: Three additional mutated alleles and etablishment of phenotype-genotype relationships of common mutations
    • Wedell A, Ritzen EM, Haglund-Stengler B, Luthman H. Steroid 21-hydroxylase deficiency: three additional mutated alleles and etablishment of phenotype-genotype relationships of common mutations. Proc Natl Acad Sci USA 1992;89:7232-6.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 7232-7236
    • Wedell, A.1    Ritzen, E.M.2    Haglund-Stengler, B.3    Luthman, H.4
  • 37
    • 0029034192 scopus 로고
    • Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene. J
    • Wilson RC, Wei J, Cheng KC, Mercado AB, New MI. Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene. J Clin Endocrinol Metab 1995;80: 1635-9.
    • (1995) Clin Endocrinol Metab , vol.80 , pp. 1635-1639
    • Wilson, R.C.1    Wei, J.2    Cheng, K.C.3    Mercado, A.B.4    New, M.I.5
  • 38
    • 0029979629 scopus 로고    scopus 로고
    • Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia
    • Lee HH, Chao HT, Ng HT, Choo KB. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia. J Med Genet 1996;33:371-5.
    • (1996) J Med Genet , vol.33 , pp. 371-375
    • Lee, H.H.1    Chao, H.T.2    Ng, H.T.3    Choo, K.B.4
  • 39
    • 0030944111 scopus 로고    scopus 로고
    • Rapid screening method for detecting mutations in the 21-hydroxylase gene
    • 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.
    • (1997) Clin Chem , vol.43 , pp. 557-561
    • Oriola, J.1    Plensa, I.2    Machuca, I.3    Pavia, C.4    Rivera-Fillat, F.5


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