Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

摘要: Abstract Two 21-hydroxylase [P-450(C21)] genes have been isolated from a human genomic library using bovine P-450(C21) cDNA. The insert DNAs containing the were also hybridized with sequences of 5' or 3' end regions C4 cDNA, indicating close linkage gene to gene. Sequence analysis has revealed that two are both approximately equal 3.4 kilobases long and split into 10 exons. Comparing sequences, we found highly homologous including their introns flanking but three mutations render one nonfunctional--1 base insertion, an 8-base deletion, transition mutation--all which may cause premature termination translation. Tandem arrangement pseudo- genuine in proximity could account for high incidence deficiency by recombination.