Rapid screening method to detect mutations in CYP21, the gene for 21-hydroxylase

American Journal of Medical Genetics

Volumn 94, Issue 1, 2000, Pages 28-31

  Yokoyama, Yuji ^a   Teraoka, Michio ^a   Tsuji, Kazushiro ^a   Ninomiya, Shinsuke ^a   Inoue, Chiyo ^a   Yamashita, Sumie ^a   Narahara, Koji ^b   Seino, Yoshiki ^a  

^a OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b Japanese Red Cross Okayama Hospital   (Japan)

Author keywords

Carrier detection; Congenital adrenal hyperplasia; Prenatal diagnosis; Steroid 21 hydroxylase

Indexed keywords

ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; GENE AMPLIFICATION; GENE CONVERSION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; MUTATION RATE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESTRICTION MAPPING; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; STEROID 21-HYDROXYLASE;

GENETTA;

EID: 0034605377     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000904)94:1<28::AID-AJMG6>3.0.CO;2-F     Document Type: Article

References (24)

1. Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency
2. Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymprphism analysis of CYP21 gene
3. Evaluation of gene delections by quantitative polymerase reaction: Experience with the alpha-thalasemia model
4. Congenital adrenal hyperplasia: Update on prenatal diagnosis and treatment
5. Determination of gene dosage by a quantitative adaption of the polymerase chain reaction (gd-PCR): Rapid detection of deletions and duplications of gene sequences
6. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene
7. 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
8. Long-term somatic follow-up of prenatally treated children
9. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia
10. Molecular and clinical advances in congenital adrenal hyperplasia
11. The molecular genetics of 21-hydroxylase deficiency
12. Dexamethasone treatment of congenital adrenal hyperplasia in utero: An experimental therapy of unproven saftey
13. Rapid screening method for detecting mutations in the 21-hydroxylase gene
14. Molecular characterization of HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia
15. In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia
16. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
17. Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxy deficiency by using polymerase chain reaction and single strand conformation polymorphism
18. Conventional molecular diagnosis of steroid 21-hydroxylase deficiency using mismatched primers and polymerase chain reaction
19. Mutations of the CYP21 gene in nonclassical steroid hydroxylase deficiency in Japan
20. Molecular and clinical advances in congential adrenal hyperplasia
21. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
22. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency
23. Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene
24. Dexamethasone treatment for congenital adrenal hyperplasia