Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.

Complete Androgen Insensitivity Syndrome in Three Sisters

P-231: Androgen Receptor Gene Expression in Azoospermia Men

Background: Androgens are critical steroid hormones in progression of spermatogenesis process and determine the male phenotype that their actions are mediated by the androgen receptor (AR), a member of the nuclear receptor superfamily. In the Androgen receptor, transactivation domain encoded by exon 1, DNA binding domain encoded by exons 2 and 3, hinge region encoded by part of exon 4, and C-te...

P-84: Characterization of Androgen Receptor Structure and Nucleocytoplasmic Shuttling of the Rice Field Eel

Background: Androgen receptor (AR) plays a critical role in prostate cancer and male sexual differentiation.Mechanisms by which AR acts and regulations of AR nucleocytoplasmic shuttling are not understood well. Materials and Methods: Degenerate PCR and RACE Cloning of AR Gene; Phylogenetic Analysis and Molecular Modeling;Real-time Fluorescent Quantitative RT-PCR; Northern Blot Hybridization;In ...

Genotyping of Intron 22 and Intron 1 Inversions of Factor VIII Gene Using an Inverse-Shifting PCR Method in an Iranian Family with Severe Haemophilia A

Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...

P-202: StuI Polymorphism on the Androgen Receptor Gene in Women with Endometriosis

Background: Androgens have an anti-proliferative effect on endometrial cells. Human androgen receptor (AR) gene contains two polymorphic short tandem repeats of GGC and CAG, and a single-nucleotide polymorphism on exon 1 that is recognized by the restriction enzyme, StuI. Prior studies have shown that the lengths of the CAG and GGC repeats are inversely and linearly related to AR activity and a...