objective(s) varicocele is associated with impaired testicular function and male infertility, but the molecular mechanisms by which fertility is affected have not been satisfactorily explained. the aim of our study was to investigate whether or not the polymerase gamma (polg) polymorphism is associated with iranian varicocele patients.    materials and methods we determined the polg cag repeat ...

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 ...

Background: The lengths of CAG repeats in two spinocerebellar ataxia genes, SCA1 and SCA3, were analyzed to determine whether such repeats exist in higher numbers in infertile males. Materials and Methods: Blood samples were collected from healthy controls, oligozoospermia patients, and azoospermia patients. DNA fragments containing target CAG repeats were amplified by PCR with template DNA pur...

PURPOSE Variations in the degree of hirsutism among women of different ethnic backgrounds may stem from multiple etiologies. Shorter length of the polymorphic CAG repeats of the androgen receptor (AR) gene may be associated with increased activity of the receptor leading to hirsutism. We hypothesized that there are ethnic differences in the degree of hirsutism that is unrelated to androgen leve...

BACKGROUND The number of (trinucleotide) CAG repeats within the androgen receptor (AR) gene is inversely correlated with transcriptional activity of testosterone-target genes. Although abnormally long CAG repeats are strongly associated with male infertility, it is unclear whether CAG repeat length polymorphism can affect androgen receptor activity and sperm parameters. To explore the previousl...

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...

We analysed the CAG repeat length in exon 1 of the androgen receptor gene in 59 idiopathic Japanese infertile males with oligozoospermia; 36 fertile males were also analysed as controls. The number of CAG repeats in infertile males ranged from 14 to 32 (mean 21.2+/-4.2), whereas the number of CAG repeats in fertile males ranged from 16 to 31 (mean 21.4+/-3.5). Among infertile males, six possess...

The R6/2 mouse is the most frequently used model for experimental and preclinical drug trials in Huntington's disease (HD). When the R6/2 mouse was first developed, it carried exon 1 of the huntingtin gene with ~150 cytosine-adenine-guanine (CAG) repeats. The model presented with a rapid and aggressive phenotype that shared many features with the human condition and was particularly similar to ...

BACKGROUND There is emerging evidence that clinical and neuro-pathological manifestations of Huntington's disease (HD) may occur in individuals with intermediate length cytosine-adenine-guanine (CAG) repeats (27-35 CAG repeats) in the Huntingtin (HTT) gene. We aim to further define the clinical characteristics of individuals who possess CAG repeat lengths in this range. METHODS Data from the ...

BACKGROUND Age at onset of Huntington's disease (HD) is largely determined by the CAG trinucleotide repeat length in the HTT gene. Importantly, the CAG repeat undergoes tissue-specific somatic instability, prevalent in brain regions that are disease targets, suggesting a potential role for somatic CAG repeat instability in modifying HD pathogenesis. Thus, understanding underlying mechanisms of ...