PMID: 16612480Apr 14, 2006Paper

Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas
J M Pina-NetoR Yamasaki

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 th...Continue Reading

Citations

Feb 23, 2011·Journal of Assisted Reproduction and Genetics·Haluk AkinFerda Ozkinay
Apr 26, 2013·Journal of Assisted Reproduction and Genetics·Marwan AlhalabiAmmar Madania
Nov 20, 2012·Indian Journal of Human Genetics·Mohammad T AkbariM Ataei Kachoui
Apr 9, 2011·Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia·Regina BehulovaVanda Repiska
May 12, 2011·International Braz J Urol : Official Journal of the Brazilian Society of Urology·Fernanda A MafraCaio P Barbosa
Sep 12, 2014·Clinical Medicine Insights. Reproductive Health·Gleice Cristina Dos Santos GodoySebastião Freitas de Medeiros
Oct 15, 2008·Nature Clinical Practice. Urology·Kim Boekelheide, Mark Sigman
Mar 22, 2014·Biomedical Reports·Walid Al-AchkarFaten Moassass
Dec 1, 2018·Journal of Endocrinological Investigation·F SciarraD Paoli

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