Conventional molecular diagnosis of steroid 21-hydroxylase deficiency using mismatched primers and polymerase chain reaction

Endocrine Research

Volumn 23, Issue 3, 1997, Pages 231-244

  Tajima, T ^a,b   Mikami, A ^c   Fukushi, M ^c   Nakae, J ^b   Kikuchi, Y ^c   Fujieda, K ^b  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b HOKKAIDO UNIVERSITY   (Japan)

^c Sapporo City Institute of Public Health   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA; RESTRICTION ENDONUCLEASE; STEROID 21 MONOOXYGENASE;

ARTICLE; BASE MISPAIRING; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; HUMAN; HUMAN TISSUE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; STEROID 21 MONOOXYGENASE DEFICIENCY;

EID: 0030924129     PISSN: 07435800     EISSN: None     Source Type: Journal    
DOI: 10.3109/07435809709031856     Document Type: Article

References (13)

1. New MI, White PC, Pang S, Dupont B, Speiser PW. 1989 The adrenal hyperplasia. In : Scriver CR (ed) The Metabolic Basis of Inherited Disease. MaCgraw-Hill Inc.,New York. pp. 1881-917.
2. Miller WL, Morel Y. 1989 The molecular genetics of 21-hydroxylase deficiency. Annu Rev Genet 23 : 371-93.
3. Higashi Y, Hiromasa T, Tanae A, Miki T, Nakura J, Kondo T, Ohura T, Ogawa E, Nakayama K, Fujii-Kuriyama Y. 1990 Effects of individual mutations in the P-450 (C21) pseudogene the P-450 (C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency. J Biochem 109 : 638-44.
4. Owerbach D, Crawford YM, Draznin MB. 1990 Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification. Mol Endocrinol 4 : 125-31.
5. Mornet E, Crete P, Kuttenn F, Raux-Demay MC, Boue J, White PC, Boue A. 1991 Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase. Am J Hum Genet 48 : 79-88.
6. Barbat B, Bogya A, Raux-Demay MC, Raux-Demay MC, Kutten F, Boue J, Simon-Bouy B, Serre JL, Boue A, Mornet E. 1995 Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency. Hum Mut 5 : 126-130.
7. Schulze E, Scharer G, Rogatzki A, Priebe L, Lewicka S. 1995 Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of sterod-21-hydroxylase. Endocrine Res 21 : 359-364.
8. Wedell A, Ritzen ME, Haglund-Strengler B, Luthman H. 1992 Steroid 21-hydroxylase deficiency : Three new mutated alleles and establishment of phenotype and genotype relationships of common mutations. Proc Natl Acad Sci USA 89 : 7232-7236.
9. Wedell A, Thilen A, Ritzen M, Stengler B, Luthman H. 1994 Mutational spectrum of steroid 21-hydroxylase gene in Sweden : Implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 78 : 1145-1152.
10. Speiser PW, Dupont B, Zhu D, Serrat J, Bugeleisen M, Tusie-Luna MT, Leser M, New MI, White PC. 1992 Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 90 : 584-595.
11. Tajima T, Fujieda K, Nakayama K, Fujii-Kuriyama Y. 1993 Molecular analysis of patient and carrier gene with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism. J Clin Invest 46 : 123-111.
12. Jinks DC, Minter M, Taver DA, Vanderford M, Hejtmancik JF, Mccabe ERB. 1989 Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening. Hum Genet 81 : 363-366.
13. Matubara Y, Narisawa K, Miyabayashi K, Tada S, Coates PM. 1990 Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. Biochem Biophys Res Comm 171: 498-505.