Document Detail

Detection of structural and numerical chromosomal abnormalities by ACM-FISH analysis in sperm of oligozoospermic infertility patients.
MedLine Citation:
PMID:  15117895     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Modern reproductive technologies are enabling the treatment of infertile men with severe disturbances of spermatogenesis. The possibility of elevated frequencies of genetically and chromosomally defective sperm has become an issue of concern with the increased usage of ICSI, which can enable men with severely impaired sperm production to father children. Several papers have been published reporting aneuploidy in oligozoospermic patients, but relatively little is known about chromosome structural aberrations in the sperm of these patients. METHODS: We examined sperm from infertile, oligozoospermic individuals for structural and numerical chromosomal abnormalities using a multicolour ACM fluorescence in situ hybridization (FISH) assay that utilizes DNA probes specific for three regions of chromosome 1 to detect human sperm that carry numerical chromosomal abnormalities plus two categories of structural aberrations: duplications and deletions of 1pter and 1cen, and chromosomal breaks within the 1cen-1q12 region. RESULTS: There was a significant increase in the average frequencies of sperm with duplications and deletions in the infertility patients compared with the healthy concurrent controls. There was also a significantly elevated level of breaks within the 1cen-1q12 region. There was no evidence for an increase in chromosome 1 disomy, or in diploidy. CONCLUSIONS: Our data reveal that oligozoospermia is associated with chromosomal structural abnormalities, suggesting that oligozoospermic men carry a higher burden of transmissible, chromosome damage. The findings raise the possibility of elevated levels of transmissible chromosomal defects following ICSI treatment.
T E Schmid; M H Brinkworth; F Hill; E Sloter; A Kamischke; F Marchetti; E Nieschlag; A J Wyrobek
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.     Date:  2004-04-29
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  19     ISSN:  0268-1161     ISO Abbreviation:  Hum. Reprod.     Publication Date:  2004 Jun 
Date Detail:
Created Date:  2004-05-27     Completed Date:  2004-12-21     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  1395-400     Citation Subset:  IM    
Department of Biomedical Sciences, University of Bradford, UK.
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MeSH Terms
Chromosome Aberrations*
Gene Deletion
Genes, Duplicate
In Situ Hybridization, Fluorescence* / methods
Infertility, Male / genetics*,  pathology,  physiopathology
Oligospermia / genetics*,  pathology,  physiopathology
Sperm Count
Sperm Motility
Spermatozoa / ultrastructure*
Grant Support

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