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Nonisotopic single strand conformation analysis of the 5 alpha-reductase type 2 gene for the diagnosis of 5 alpha-reductase deficiency
- Source :
- The Journal of clinical endocrinology and metabolism. 81(9)
- Publication Year :
- 1996
-
Abstract
- 5 alpha-Reductase deficiency is a rare autosomal recessive disorder of defective virilization in karyotypic males due to reduced conversion of testosterone to dihydrotestosterone. The gene encoding the affected 5 alpha-reductase type 2 enzyme has recently been cloned, and mutations within the coding region have been discovered as the cause of this disease. We address the possibility of a rapid nonradioactive molecular genetic screening technique for initial diagnosis and report different point mutations in this gene in eight unrelated patients with clinical features of 5 alpha-reductase deficiency. For molecular genetic analysis, DNA from peripheral blood leukocytes was studied. The coding region of the 5 alpha-reductase type 2 gene was characterized by exon-specific PCR amplification, nonradioactive single strand conformation analysis, and direct sequencing. In seven patients, homozygous point mutations were identified (Leu55-Gln, delta Met157, Gly196-Ser, Arg227-Gln, Ala228-Thr, and His231-Arg). One individual was a compound heterozygote carrier of two mutations (Ile112-Asn and Gln126-Arg). We conclude that molecular genetic characterization of point mutations in the 5 alpha-reductase type 2 gene may be used as an additional valuable procedure for the diagnosis of this disorder.
- Subjects :
- Male
medicine.medical_specialty
Endocrinology, Diabetes and Metabolism
Clinical Biochemistry
Molecular Sequence Data
Biology
medicine.disease_cause
Compound heterozygosity
Biochemistry
Polymerase Chain Reaction
Consanguinity
Endocrinology
3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Internal medicine
medicine
Leukocytes
Coding region
Humans
Point Mutation
Amino Acid Sequence
Gene
Polymorphism, Single-Stranded Conformational
Genetics
Mutation
Base Sequence
Point mutation
5-Alpha-Reductase Deficiency
Biochemistry (medical)
Heterozygote advantage
Single-strand conformation polymorphism
DNA
Isoenzymes
Subjects
Details
- ISSN :
- 0021972X
- Volume :
- 81
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- The Journal of clinical endocrinology and metabolism
- Accession number :
- edsair.doi.dedup.....f6812702592491ab901db79836c782b3