somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men

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ID: 166075
2006
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Abstract
The objective of the present study was to determine the frequency of somatic chromosomal anomalies and Y chromosomal microdeletions (azoospermia factor genes, AZF) in infertile males who seek assisted reproduction. These studies are very important because the assisted reproduction techniques (mainly intracytoplasmic sperm injection) bypass the natural selection process and some classical chromosomal abnormalities, microdeletions of AZF genes or some deleterious genic mutations could pass through generations. These genetic abnormalities can cause in the offspring of these patients male infertility, ambiguous external genitalia, mental retardation, and other birth defects. We studied 165 infertile men whose infertility was attributable to testicular problems (60 were azoospermic, 100 were oligospermic and 5 were asthenospermic). We studied 100 metaphases per patient with GTG banding obtained from temporary lymphocyte culture for chromosomal abnormality detection and performed a genomic DNA analysis using 28 Y chromosome-specific sequence-tagged sites for Y AZF microdeletion detection. Karyotyping revealed somatic anomalies in 16 subjects (16/165 = 9.6%). Of these 16, 12 were in the azoospermic group (12/60 = 20%) and 4 were in the oligospermic group (4/100 = 4%). The most common chromosomal anomaly was Klinefelter syndrome (10/165 = 6%). Microdeletions of AZF genes were detected in 12 subjects (12/160 = 7.5%). The frequencies detected are similar to those described previously. These results show the importance of genetic evaluation of infertile males prior to assisted reproduction. Such evaluation can lead to genetic counseling and, consequently, to primary and secondary prevention of mental retardation and birth defects.
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pina-neto2006braziliansomatic Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;J.M. Pina-Neto;R.C.V. Carrara;R. Bisinella;L.F. Mazzucatto;M.D. Martins;E. Sartoratto;R. Yamasaki
Journal Free radical biology & medicine
Year 2006
DOI
10.1590/S0100-879X2006000400017
URL
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000400017
Keywords
male infertility karyotype cytogenetics

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