Related individuals with different androgen receptor gene deletions.
نویسندگان
چکیده
منابع مشابه
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...
متن کاملP-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...
متن کاملP-118: Triplet Nucleotide Repeats Expansion (CAG and GGN) of Androgen Receptor Gene in Infertile Patients with Abnormal Spermogram
Background s:648:"The infertility has recently been estimated to affect approximately 9% of couples worldwide. Androgens and a functional androgen receptor (AR) are essential for normal development of the male gender, and for maintenance of spermatogenesis throughout the life. Two polymorphic trinucleotide repeats, CAG and GGN, encoding for the amino acids glutamine and glycine, respectively ar...
متن کاملandrogen receptor gene mutations in 46, xy females
the androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. the primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. this prevents normal androgen action and thus leads to impaired virilization. a point m...
متن کاملP-119: Survey of Genetic Alterations in Exon1 of Androgen Receptor Gene in Azoospermic Patients
Background Androgen receptor (AR) mediates androgen actions such as initiation and promotion of spermatogenesis and growth of accessory sex organs. There are two trinucleotide polymorphisms (CAG and GGN repeats) in exon1 of AR gene that are vary in length in population. The CAG and GGN repeats association with infertility is still unknown and this study is planned to assess the distribution of ...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1993
ISSN: 0021-9738
DOI: 10.1172/jci116271