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Novel mutations in the human CYP21 gene
1Department of Tissue Typing, Finnish Red Cross Blood Transfusion Service, Kivihaantie 7, FIN-00310 Helsinki, Finland. antti.levo@helsinki.fi
Prenatal Diagnosis
|December 18, 2001
Summary
Genetic defects in steroid 21-hydroxylase deficiency are often caused by gene recombination. Novel and de novo mutations in the CYP21 gene are more common than previously thought, impacting genetic diagnostics.
Area of Science:
- Genetics
- Molecular Biology
- Endocrinology
Background:
- Steroid 21-hydroxylase deficiency is a genetic disorder.
- Most cases are linked to intergenic recombination between CYP21 and CYP21P genes.
- The frequency of novel sporadic and de novo mutations in CYP21 is not well-established.
Purpose of the Study:
- To estimate the occurrence rate of single-family (sporadic) and de novo germline mutations in the CYP21 gene.
- To assess the significance of these mutations in the genetic diagnostics of steroid 21-hydroxylase deficiency.
Main Methods:
- Analysis of a population-based sample of 76 Finnish families.
- Systematic screening for mutations in the CYP21 locus.
Main Results:
- Three single-family mutations and two de novo mutations were identified in CYP21 among the 76 families.
- The estimated rates were approximately 5% for novel mutations and approximately 2% for de novo mutations.
Conclusions:
- Novel and de novo mutations in CYP21 are not rare.
- These mutations should be considered in the genetic diagnostics of steroid 21-hydroxylase deficiency.