scholarly journals CAG repeat length variation in the polymerase gamma (POLG) gene: effect on semen quality

2008 ◽  
Vol 14 (4) ◽  
pp. 245-249 ◽  
Author(s):  
G.H. Westerveld ◽  
L. Kaaij-Visser ◽  
M. Tanck ◽  
F. van der Veen ◽  
S. Repping
Keyword(s):  
Semen Quality ◽  
Repeat Length ◽  
Cag Repeat ◽  
Length Variation ◽  
Polymerase Gamma ◽  
Gene Effect ◽  
Polg Gene

scholarly journals Effect of smoking on semen quality, FSH, testosterone level, and CAG repeat length in androgen receptor gene of infertile men in an Indian city

2012 ◽  
Vol 58 (5) ◽  
pp. 255-262 ◽  
Author(s):  
Amrita Mitra ◽  
Baidyanath Chakraborty ◽  
Dyutiman Mukhopadhay ◽  
Manisha Pal ◽  
Sanjit Mukherjee ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Testosterone Level ◽  
Semen Quality ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Repeat Length ◽  
Cag Repeat ◽  
Infertile Men ◽  
Indian City

scholarly journals Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation

2021 ◽  
Vol 10 (1) ◽  
pp. 53-74
Author(s):  
Marc Ciosi ◽  
Sarah A. Cumming ◽  
Afroditi Chatzi ◽  
Eloise Larson ◽  
William Tottey ◽  
...  
Keyword(s):  
Neurodegenerative Disorder ◽  
Disease Onset ◽  
Somatic Mosaicism ◽  
Genotyping By Sequencing ◽  
Repeat Length ◽  
Cag Repeat ◽  
Length Variation ◽  
Allele Size ◽  
Pcr Products ◽  
Alternative Approaches

Background: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of the HTT CAG repeat. Affected individuals inherit ≥36 repeats and longer alleles cause earlier onset, greater disease severity and faster disease progression. The HTT CAG repeat is genetically unstable in the soma in a process that preferentially generates somatic expansions, the proportion of which is associated with disease onset, severity and progression. Somatic mosaicism of the HTT CAG repeat has traditionally been assessed by semi-quantitative PCR-electrophoresis approaches that have limitations (e.g., no information about sequence variants). Genotyping-by-sequencing could allow for some of these limitations to be overcome. Objective: To investigate the utility of PCR sequencing to genotype large (>50 CAGs) HD alleles and to quantify the associated somatic mosaicism. Methods: We have applied MiSeq and PacBio sequencing to PCR products of the HTT CAG repeat in transgenic R6/2 mice carrying ∼55, ∼110, ∼255 and ∼470 CAGs. For each of these alleles, we compared the repeat length distributions generated for different tissues at two ages. Results: We were able to sequence the CAG repeat full length in all samples. However, the repeat length distributions for samples with ∼470 CAGs were biased towards shorter repeat lengths. Conclusion: PCR sequencing can be used to sequence all the HD alleles considered, but this approach cannot be used to estimate modal allele size or quantify somatic expansions for alleles ⪢250 CAGs. We review the limitations of PCR sequencing and alternative approaches that may allow the quantification of somatic contractions and very large somatic expansions.

CAG repeat length variation in sperm from a patient with Kennedy's disease

1995 ◽  
Vol 4 (2) ◽  
pp. 303-305 ◽  
Author(s):  
Lin Zhang ◽  
Kenneth H. Fischbeck ◽  
Norman Arnhelm
Keyword(s):  
Repeat Length ◽  
Cag Repeat ◽  
Length Variation ◽  
Kennedy’S Disease ◽  
Kennedy's Disease

CAG repeat length variation in the Androgen Receptor gene is not associated with spermatogenic failure

2008 ◽  
Vol 89 (1) ◽  
pp. 253-259 ◽  
Author(s):  
Henrike Westerveld ◽  
Liesbeth Visser ◽  
Michael Tanck ◽  
Fulco van der Veen ◽  
Sjoerd Repping
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Repeat Length ◽  
Cag Repeat ◽  
Length Variation ◽  
Spermatogenic Failure

An investigation into CAG repeat length variation and N/C terminal interactions in the T877A mutant androgen receptor found in prostate cancer

2008 ◽  
Vol 111 (1-2) ◽  
pp. 138-146 ◽  
Author(s):  
Jason Southwell ◽  
Shafinaz F. Chowdhury ◽  
Bruce Gottlieb ◽  
Lenore K. Beitel ◽  
Rose Lumbroso ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Androgen Receptor ◽  
Repeat Length ◽  
Cag Repeat ◽  
Length Variation

scholarly journals Identification of Differentially Expressed Genes in Prostatic Epithelium in Relation to Androgen Receptor CAG Repeat Length

2006 ◽  
Vol 21 (2) ◽  
pp. 96-105 ◽  
Author(s):  
C.M. Coutinho-Camillo ◽  
E.C. Miracca ◽  
M.L. Dos Santos ◽  
S. Salaorni ◽  
A.S. Sarkis ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Androgen Receptor ◽  
Differentially Expressed Genes ◽  
Repeat Length ◽  
Cag Repeat ◽  
Differentially Expressed ◽  
Cag Repeats ◽  
Pcr Analysis ◽  
Length Variation ◽  
Rt Pcr

The CAG repeat within exon 1 of the androgen receptor (AR) has been associated with the development of prostate cancer. The shorter number of glutamine residues in the protein has been associated with a higher transcriptional activity of the AR and increased relative risk for prostate cancer. In an attempt to identify differentially expressed genes in prostate cancer in relation to AR CAG repeat length variation, in this study we used total mRNA from normal and tumor tissues from 2 prostate cancer patients with AR alleles containing 19 and 26 CAG repeats to perform differential-display RT-PCR analysis. We were able to identify 48 different transcripts that showed homology to several known genes associated with different biological pathways. Among the differentially expressed genes, ATRX and SFRP1 were further validated by quantitative RT-PCR. The transcripts of both ATRX and SFRP1 genes proved to be down-regulated in most of the prostate tumors analyzed by quantitative RT-PCR. Hypermethylation of the promoter region of the SFRP1 gene was found in 17.5% (7/40) of the cases analyzed and was associated with the loss of SFRP1 expression (p=0.014). The differentially expressed genes identified in this study are implicated in several cellular pathways that, when up- or down-regulated, might play a role in the tumorigenic process of the prostate.

scholarly journals CAG Repeat Polymorphism of the Mitochondrial DNA Polymerase Gamma Gene in Macedonian Infertile and Fertile Men

2007 ◽  
Vol 10 (2) ◽  
pp. 37-42 ◽  
Author(s):  
T Plaseski ◽  
P Noveski ◽  
C Dimitrovski ◽  
G Efremov ◽  
D Plaseska-Karanfilska
Keyword(s):  
Mitochondrial Dna ◽  
Dna Polymerase ◽  
Cag Repeat ◽  
Cag Repeats ◽  
Control Group ◽  
Repeat Polymorphism ◽  
Polymerase Gamma ◽  
Dna Polymerase Gamma ◽  
Polg Gene ◽  
Mitochondrial Dna Polymerase

CAG Repeat Polymorphism of the Mitochondrial DNA Polymerase Gamma Gene in Macedonian Infertile and Fertile MenThe catalytic subunit of human mitochondrial DNA polymerase gamma (POLG) is encoded by the POLG gene, located on chromosome 15q24 and includes a polymorphic CAG repeat. Analysis of POLG genotypes in some populations has identified an association between the absence of the 10 CAG repeat allele and male infertility and suggested that POLG gene polymorphism should be considered as a possible contributing factor in cases with idiopathic subfertility with normal spermiograms. We undertook to assess whether different POLG CAG alleles are associated with impaired spermatogenesis and infertility/subfertility in Macedonian men. We studied 225 infertile/subfertile men (74 with azoospermia, 56 with severe oligozoospermia, 27 with mild oligozoospermia, 39 with unexplained infertility and normal sperm counts, and 29 with known causes of infertility) and a control group of 123 proven fathers, by fluorescent polymerase chain reaction (PCR) andanalysis on an ABI PRISM™ 310 Genetic Analyzer. The most frequently observed POLG allele was the common one of 10 CAG repeats with a frequency of 87.6% in the infertile/subfertile group and 86.6% in the control group. The homozygous mutant POLG genotype (not10/not10) was found in both groups, 1.6% in the infertile/subfertile patients and 1.8% in the controls. In conclusion, our study showed no association between polymorphism of the POLG gene and infertility in Macedonian men.

Genetic Screening in Infertile Mexican Men: Chromosomal Abnormalities, Y Chromosome Deletions, and Androgen Receptor CAG Repeat Length

2008 ◽  
Vol 29 (6) ◽  
pp. 654-660 ◽  
Author(s):  
S. G. Martinez-Garza ◽  
M. C. Gallegos-Rivas ◽  
M. Vargas-Maciel ◽  
J. M. Rubio-Rubio ◽  
M. E. de los Monteros-Rodriguez ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Y Chromosome ◽  
Genetic Screening ◽  
Chromosomal Abnormalities ◽  
Repeat Length ◽  
Cag Repeat ◽  
Chromosome Deletions ◽  
Mexican Men

Shorter CAG repeat length in the AR gene is associated with poor outcome in head and neck cancer

2007 ◽  
Vol 52 (8) ◽  
pp. 732-739 ◽  
Author(s):  
Fabíola Encinas Rosa ◽  
Rodrigo Mattos dos Santos ◽  
Regina Célia Poli-Frederico ◽  
Renata de Azevedo Canevari ◽  
Inês Nobuko Nishimoto ◽  
...  
Keyword(s):  
Head And Neck Cancer ◽  
Head And Neck ◽  
Neck Cancer ◽  
Repeat Length ◽  
Cag Repeat ◽  
Poor Outcome
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