Abstract
Seventy five percent of lesions of the CYP21B gene are point mutations (PM) and 25% are gene deletions or macroconversions (D/C). In a previous study, using PCR followed by restriction enzyme or SSCP analysis, we identified the genetic lesion in 50 % of the alleles in the salt/losing (SL) form, but in none of the alleles in the simple virilizing (SV) form. In this study we have added a dotblot technique using specific oligonucleotides in order to evaluate the most frequently described mutations in American and European populations. A total of 18 affected families were studied, (12 SL and 6 SV). Four different regions of the CYP21B gene were amplified by PCR. In SL, D/C was studied by PCR, PM of codon 318 (C → T) and of exon 3, -8bp by PCR associated with restriction endonuclease (Pst 1 and Alu 1 respectively), PM of codon 234-238 (T,T,T → A, A, A) codon 356 intron 2 (A → G) and codon 172 (T → A) by PCR associated to hybridization with specific oligonucleotides. The last 2 MP were also looked for in SV. In SL, mutant CYP21B genes were detected for 71% of alleles (D/C:25%, Intron 2:20.8%, codon 318:16.7%, -8bp:8.33%, codon 234-238:0%, and codon 356:0%), and in SV in 30% (codon 172:30%, intron 2, 0%). The fact that no PM was detected in intron 2 of SV (vs 30% in other populations) suggests that other PM are present in our population.
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Dardis, A., Saraco, N., Rivarola, M. et al. STUDY OF THE CYP21 GENE IN AN ARGENTINIAN POPULATION OF PATIENTS (P) WITH 21-HYDROXYLASE ENZYME DEFICIENCY (CAH). Pediatr Res 38, 624 (1995). https://doi.org/10.1203/00006450-199510000-00045
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DOI: https://doi.org/10.1203/00006450-199510000-00045