Sperm DNA Integrity and Meiotic Behavior Assessment in an Infertile Male Carrier of a 9qh+++ Polymorphism

Autor: María José Amengual, Joaquima Navarro, Agustín García-Peiró, Carlos Abad, Maria Oliver-Bonet, Jordi Benet, M. Guitart
Rok vydání: 2011
Předmět:
Male
complejo sinaptonémico
Health
Toxicology and Mutagenesis
humanos
ADN
lcsh:Medicine
Aneuploidy
etapa de paquiteno
Male infertility
proteínas nucleares
In Situ Hybridization
Fluorescence
In Situ Hybridization
Synaptonemal Complex
daño del ADN
Nuclear Proteins
General Medicine
adulto
Flow Cytometry
Spermatozoa
ensamblaje y desensamblaje de la cromatina
Molecular Medicine
DNA fragmentation
etiquetado in situ de extremos de corte de ADN
Chromosomes
Human
Pair 9
MutL Protein Homolog 1
espermatozoides
Research Article
Biotechnology
Adult
Infertility
Article Subject
lcsh:Biotechnology
Chromosome 9
Biology
Chromosomes
infertilidad
hibridación in situ
Andrology
Meiosis
aneuploidía
Chromosome 18
lcsh:TP248.13-248.65
In Situ Nick-End Labeling
Genetics
medicine
Humans
Molecular Biology
Infertility
Male
Adaptor Proteins
Signal Transducing
Polymorphism
Genetic
lcsh:R
Chromosome
DNA
citometría de flujo
Chromatin Assembly and Disassembly
medicine.disease
Molecular biology
cromosomas
Pachytene Stage
DNA Damage
Zdroj: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Journal of Biomedicine and Biotechnology
Journal of Biomedicine and Biotechnology, Vol 2011 (2011)
ISSN: 1110-7251
1110-7243
DOI: 10.1155/2011/730847
Popis: Although several reports on male infertility suggest a relationship between chromosome 9 polymorphisms and infertility, the effects on the phenotype have not been extensively reported. In this study, an infertile patient was found to carry a 9qh+++ chromosome. The flow cytometric TUNEL assay and SCD test have been applied to characterize sperm DNA integrity. In order to assess its meiotic behaviour, synapsis, recombination, and aneuploidy, analyses have been also performed. Sperm DNA fragmentation (SDF) was 77.81% and 87% for the TUNEL and SCD tests, respectively. Ninety-two percent of pachytene cells analyzed showed meiotic abnormalities. The mean number of MLH1 foci per pachytene in the control group was higher (49) than the mean found in the 9qh+++ patient (38) (P < .0001). In spermatozoa, significant increases of disomy rates were observed for chromosome 18 and for the sex chromosomes (P < .0001). These disturbances could be present in other male carriers of a less marked 9qh+.
The authors wish to thank Raquel Torres for technical assistance and Chuck Simmons for the English revision of this manuscript. This work was supported by the Fondo Investigacion Sanitaria (Grant Numbers PI051834, PI080623 to J. Benet), and by the Generalitat de Catalunya (Grant Number 2009 SGR 1107 to J. Benet). A. Garcia-Peiro has a grant from the Catedra de Recerca Eugin-UAB.
Databáze: OpenAIRE
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