|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Chimeric CYP21A1P/CYP21A2 genes, caused by homologous recombination between CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2) and its highly homologous pseudogene CYP21A1P (cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene), are common in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD).
|
22156666 |
2012 |
|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MLPA analysis represents a simple, rapid and sensitive tool for the detection of CYP21A2/CYP21A1P deletions/duplications in CAH molecular diagnosis.
|
19263525 |
2009 |
|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We developed a novel CAH mutation screening method based on allele-specific primer extension (ASPE), followed by bead-array hybridization, for the ten major point mutation sites and the 8 bp deletion in CYP21A2, and a long PCR assay to detect large deletions between CYP21A1P and CYP21A2.
|
19925038 |
2009 |
|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CYP21A2 mutations resulting from microconversions of the CYP21A1P sequence in congenital adrenal hyperplasia (CAH) commonly appear in all populations.
|
19201236 |
2009 |
|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, the haplotype of CYP21 with chimera CYP21P/CYP21 causes 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH), while chimera TNXA/TNXB is associated with Ehlers-Danols syndrome as well as CAH.
|
15639189 |
2005 |
|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.
|
15126570 |
2004 |
|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It has been demonstrated that one reaction for PCR amplification of the CYP21 gene and the chimeric CYP21P/CYP21 gene using mixed primers in combination with nested PCR and single-strand conformation polymorphism is considered highly efficient and accurate for molecular diagnosis of CAH due to 21-hydroxylase deficiency.
|
11359457 |
2001 |
|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Typically, patients homozygous for the 30-kb deletion encoding classic CAH possess a unique CYP21P/21 hybrid gene with the junction site located after the third exon, yielding a nonfunctional pseudogene.
|
11134109 |
2000 |
|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This novel mutation has not been reported to occur in the CYP21P alleles and it was not found in the CYP21P alleles in this CAH family.
|
10447270 |
1999 |
|
CYP21A1P
|
0.100 |
Biomarker
|
disease |
BEFREE |
A major challenge in molecular diagnostics of CAH is the high homology between the CYP21 gene and the CYP21P pseudogene and the phenomenon of apparent gene conversion, which inactivates the functional gene.
|
9761237 |
1998 |
|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most cases of congenital adrenal hyperplasia (CAH) are caused by mutations in this gene, and most mutations appear to arise from gene conversion-like events involving the transfer of deleterious sequences from the pseudogene, CYP21P, which is located within 30 kb of CYP21.
|
9836705 |
1998 |
|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The CAH haplotype had two sequence crossovers: from CYP21P to CYP21 in the 7th intron, and from C4A to C4B between codons 1106 (exon 26) and 1157 (exon 28).
|
8525475 |
1995 |
|
CYP21A1P
|
0.100 |
Biomarker
|
disease |
BEFREE |
The most common haplotype (with one CYP21 and one CYP21P gene) was significantly more often observed in patients with simple virilizing CAH than in those with salt-losing CAH.
|
1473541 |
1992 |
|
CYP21A1P
|
0.100 |
Biomarker
|
disease |
BEFREE |
The molecular diagnosis of CAH, important for prenatal diagnosis, carrier detection, and a better understanding of the various clinical CAH forms, is complicated by the close proximity of a highly similar pseudogene, CYP21A, containing (and probably donating, by gene conversion-like events) most of the defects underlying CAH.
|
1605859 |
1992 |
|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A mutant P450c21 gene from a patient with simple virilizing CAH was identified and shown to be consistent with a recombination between P450c21A and P450c21B.
|
1905948 |
1991 |
|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A point mutation within exon 7 producing an amino acid coding change and a recognition site for the endonuclease Ncol has been reported in the HLA-Bw47-linked CYP21A pseudogene and some mutant CYP21B (steroid 21-hydroxylase) genes of patients with congenital adrenal hyperplasia (CAH).
|
1978247 |
1990 |
|
CYP21A1P
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that a single, unequal crossingover between the CYP21A and the CYP21B genes yields deletion of the active CYP21 gene and salt-losing CAH and that these crossingovers do not occur randomly within the CYP21 genes of our patients.
|
2613228 |
1989 |