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Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients by Liliana B. Dain; Noemí D. Buzzalino; Adriana Oneto; Susana Belli; Mirta Stivel; Titania Pasqualini; Carolina Minutolo; Eduardo H. Charreau; Liliana G. Alba is a Medicine article available to read on EtoBox.
What is Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients about?
## Summary ## objective To characterize the molecular basis of the 21‐hydroxylase deficiency in a group of Argentine patients presenting the classical and nonclassical forms of the disease. ## DESIGN To analyse the frequency of point mutations in the __CYP21__ gene by DNA amplification and mutation detection. ## patients Forty‐one patients from 36 nonrelated families: 25 nonclassical (NC), 11 salt‐wasting (SW) and five simple virilising (SV). A total of 27 parents and 13 nonaffected siblings were also analysed. **MEASUREMENTS** Basal steroid hormones and 17‐hydroxyprogesterone levels following adrenal stimulation with adrenocorticotrophic hormone were measured, together with an analysis of 10 point mutations in the __CYP21__ gene. **results** A total of 83% and 74·4% classical and nonclassical chromosomes, respectively, were characterized. The intron 2 mutation was the most prevalent among classical alleles. In addition, a high frequency for R356W was observed in both groups (13·3 and 6·9%, respectively), while V281L was the most frequent mutation among the nonclassical patients with a frequency of 39·5%. No alleles containing P30L were observed, and one __de novo__ mutation (R356W
Who reads Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Liliana B. Dain; Noemí D. Buzzalino; Adriana Oneto; Susana Belli; Mirta Stivel; Titania Pasqualini; Carolina Minutolo; Eduardo H. Charreau; Liliana G. Alba
- Publisher
- John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley; Research Square (ISSN 0300-0664)
- Published
- 2002
- Language
- EN
- Field
- Medicine (Health Sciences)