Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene

TNXA (also known as XA) is a truncated pseudogene of 5.7 kb that not only lacks most of the coding sequence of TNXB but also has a 120 bp deletion (indicated by the small triangle) spanning an exon-intron boundary. 10, 12, 17 CYP21A2 (also known as CYP21B) is the active steroid 21-hydroxylase gene;...

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Bibliographic Details
Published in:Journal of medical genetics 2003-05, Vol.40 (5), p.e53-53
Main Authors: Koppens, P F J, Smeets, H J M, de Wijs, I J, Degenhart, H J
Format: Article
Language:English
Subjects:
Biosynthesis
Child
Chromosome Breakage - genetics
Chromosome Deletion
Chromosomes
Congenital diseases
Crossing Over, Genetic - genetics
CYP21A2
Defects
Deoxyribonucleic acid
DNA
DNA methylation
DNA Mutational Analysis
Ehlers-Danlos syndrome
Electronic Letter
Female
Gene Deletion
Genes
Haplotypes
Haplotypes - genetics
Humans
major histocompatibility complex
Major Histocompatibility Complex - genetics
Male
MHC
Mutation
non-functional hybrid tenascin-X gene
Patients
PCR
Pedigree
polymerase chain reaction
Polymorphism, Genetic - genetics
Proteins - genetics
Pseudogenes - genetics
RCCX
Recombinant Fusion Proteins - genetics
Restriction Mapping
RP-C4-CYP21-TNX module
Steroid 21-Hydroxylase - genetics
steroid 21-hydroxylase deficiency
Tenascin - genetics
TNF
TNXB
TNXB (also known as XA)
tumour necrosis factor
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Description
Summary:TNXA (also known as XA) is a truncated pseudogene of 5.7 kb that not only lacks most of the coding sequence of TNXB but also has a 120 bp deletion (indicated by the small triangle) spanning an exon-intron boundary. 10, 12, 17 CYP21A2 (also known as CYP21B) is the active steroid 21-hydroxylase gene; CYP21A1P (also known as CYP21A) is a full size pseudogene containing several deleterious mutations throughout its sequence, including three in phase stop codons. 9 The C4 genes express variants of the fourth component of complement with different affinities, known as C4A and C4B. [...]the current report clearly illustrates that a de novo recombination may be a pitfall in understanding RCCX haplotypes, emphasising the importance of studying entire families rather than isolated patients.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.40.5.e53