Pitfalls of PCR-based genotyping in patients with 21-hydroxylase deficiency

Acta Paediatrica Taiwanica

Volumn 42, Issue 3, 2001, Pages 145-150

  Tsai, C H ^a   Lin, W D ^a   Tsai, F J ^a   Peng, C T ^a   Wu, J Y ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

21 hydroxylase; Allele dropout; Congenital adrenal hyperplasia (CAH); CYP21A2; Fusion gene

Indexed keywords

CYTOCHROME; CYTOCHROME P450 21A2; UNCLASSIFIED DRUG;

ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; FUSION GENE; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS;

ADRENAL HYPERPLASIA, CONGENITAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; LINKAGE (GENETICS); POLYMERASE CHAIN REACTION;

EID: 0034989058     PISSN: 16088115     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Congenital adrenal hyperplasia
2. The molecular genetics of 21-hydroxylase deficiency
3. Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man
4. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man
5. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene
6. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia
7. Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese
8. The 1993-94 genethon human genetic linkage map
9. Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees
10. Congenital adrenal hyperplasia