Molecular analysis of androgen resistance syndromes in Egyptian patients

ABSTRACT

This study aimed to examine AR and 5 alpha-reductase 2 [5 alpha R2] gene mutations among a sample of such cases as a first step towards instituting a screening program. Five families with a typical hormonal profile of 5 alpha RD were screened for major deletions of exons 3-5 of the 5 alpha R2 gene using polymerase chain reaction [PCR] and electrophoresis. Consequently, screening for point mutations was carried out using single strand conformational polymorphism [SS CP] analysis, followed by nucleotide sequencing. Likewise, seven patients with androgen insensitivity syndrome [AIS] were subjected to molecular analysis of AR exons B-H along the same scheme, except for the use of denaturing gradient gel electrophoresis [DGGE] for screening point mutations. The study showed the absence of major deletions in either gene. One family had abnormal electrophoretic mobility on SSCP of exon 5 of the 5 alpha R2 gene resulting from a point mutation of C to T substitution at codon 246. Another family showing retarded mobility on DGGE had a point mutation of G to A substitution at codon 889 of the AR gene. The study revealed two mutations that were previously reported in other geographically distinct populations inferring the possibility of the presence of mutational host spots in the genes