O-42: Expansion of CAG Repeats in theSpinocerebellar Ataxia Type 1 (SCA1) Gene inIdiopathic Oligozoospermia Patients

P-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...

Imperfect CAG repeats form diverse structures in SCA1 transcripts.

The expanded CAG repeat in the coding sequence of the spinocerebellar ataxia type 1 (SCA1) gene is responsible for SCA1, one of the hereditary human neurodegenerative diseases. In the normal SCA1 alleles usually 1-3 CAT triplets break the continuity of the CAG repeat tracts. Here we show what is the structural role of the CAU interruptions in the SCA1 transcripts. Depending on their number and ...

The SCA1 (Spinocerebellar ataxia type 1) and MJD (Machado-Joseph disease) CAG repeats in normal individuals: segregation analysis and allele frequencies

Spinocerebellar ataxia type 1 (SCA1) and Machado-Joseph disease (MJD/SCA3) are autosomal dominant neurodegenerative diseases caused by expansions of a CAG trinucleotide repeat in the SCA1 and MJD genes. These expanded sequences are unstable upon transmission, leading to an intergeneration increase in the number of repeats (dynamic mutation). The transmission of the CAG repeat was studied in nor...

Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.

OBJECTIVE To assess the frequency of SCA1 (spinocerebellar ataxia type 1), SCA2, SCA3/MJD (spinocerebellar ataxia type 3/Machado-Joseph disease), SCA6, SCA7, and DRPLA (dentatorubropallidoluysian atrophy) CAG trinucleotide repeat expansions [(CAG)n] among persons diagnosed with hereditary SCA from Chinese families. PATIENTS AND METHODS Spinocerebellar ataxia type 1, SCA2, SCA3/MJD, SCA6, SCA7...

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant inherited disorder characterized by degeneration of cerebellar Purkinje cells, spinocerebellar tracts, and selective brainstem neurons owing to the expansion of an unstable CAG trinucleotide repeat. To gain insight into the pathogenesis of the SCA1 mutation and the intergenerational stability of trinucleotide repeats in mice, we have...

Pseudo-Argyll Robertson pupil of patients with spinocerebellar ataxia type 1 (SCA1)