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-Reductase-2 May Constitute an Ancestral Founder Mutation in Mexican Patients
* To whom correspondence should be addressed. E-mail: ipcanto{at}yahoo.com.mx.
Inactivating mutations of the SRD5A2 gene result in steroid 5alpha-reductase 2 deficiency, an autosomal recessive disorder expressed as a male-limited disorder of sex development. Herein, genomic DNA was isolated from eleven new patients with apparent steroid 5alpha-reductase 2 deficiency. Coding sequence abnormalities in SRD5A2 were assessed by exon-specific polymerase chain reaction, single-stranded conformation polymorphism and direct sequencing. Likewise, enzymatic activity of the P212R gene variant of SRD5A2 was assessed. DNA analysis revealed mutations in all patients (G115D, R171S, N193S, E197D, G203S, P212R). Three individuals were compound heterozygotes; six were homozygotes and two more were single heterozygotes for SRD5A2 mutations; remarkably, 40% of the mutant alleles (9/22) contained the gene variant P212R. The results described in this study represent, along with our previous reports, the largest number of patients with steroid 5alpha-reductase 2 deficiency belonging to non-related families. Regarding the frequency of the p.P212R mutation in our population and its presence throughout all of our country, it allows us to hypothetized that the presence of this mutation may constitute a founder gene effect.
Key words: Androgen •
Penis •
Reproductive Genetics •
Testis
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