Cent Eur J Public Health 2003, 11(3):124-128

Common CYP21 Gene Mutations in Czech Patients and Statistical Analysis of Worldwide Mutation Distribution

Kotaška K.¹, Lisá L.², Průša R.¹

¹ Department of Clinical Biochemistry and Pathobiochemistry, 2nd Medical Faculty, Charles University, Faculty Hospital Motol, Prague

² 1st Paediatric Department, 2nd Medical Faculty, Charles University, Faculty Hospital Motol, Prague, Czech Republic

CYP21 gene molecular analysis was performed to determine the mutational analysis of 87 unrelated Czech patients with different forms of steroid 21-hydroxylase deficiency. Eight of the most common point mutations (intron 2 splice, P30L, 8 bp deletion in exon 3, I172N, V281L, Q318X, R356W, P453S) were analyzed using Amplification-created restriction site method. Cluster in exon 6 mutation was analyzed using allele-specific oligonucleotide hybridisation. Deletions and conversions were screened by modification of an sequence specific oligonucleotides hybridisation. The most frequent mutation in Czech patients was intron 2 splice mutation (45.4%). The comparison of mutation frequencies was made among Czech and European population (high frequency of intron 2 splice, 8bp deletion, P30L, P453S and low frequency of deletions/conversions in Czech population) and among Czech and different regions worldwide (low frequency of deletions/large gene conversions, V281L, R356W, high frequency of intron2, 8bp deletion, P30L and P453S in Czech population). We compared common mutation frequencies of different regions worldwide (North and South America, Asia, North Africa, Europe). Significant differencies in selected regions were determined by ANOVA statistical analysis (One-sample t-test, confidence interval) at value of p<0.05.

Keywords: CYP21 gene, frequency of mutations, 21-hydroxylase deficiency, genotype, phenotype, comparison among regions

Published: September 1, 2003  Show citation