Volume 6, Issue 3 (7-2008)                   IJRM 2008, 6(3): 57-0 | Back to browse issues page

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Omrani M D, Karimzad Hagh J, Klein W, Gebauer J. Cytogenetic and molecular genetic analysis of dicentric Y chromosome and its relation to male azoospermia. IJRM 2008; 6 (3) :57-0
URL: http://ijrm.ir/article-1-113-en.html
Cytogenetic and molecular genetic analysis of dicentric Y chromosome and its relation to male azoospermia
Mir Davood Omrani * 1, Javad Karimzad Hagh2 , Wolfrom Klein3 , Jurgen Gebauer2
1- Department of Genetics, Urmia Medical Sciences University, Iran , davood_omrani@umsu.ac.ir
2- Institute of Human Genetics and Anthropologia, Heinrich-Heine-University of Düsseldorf, Germany
3- Department of Human Genetics, Ruhr- University Bochum, Germany
Abstract:   (2288 Views)
Background: Cytogenetic analysis, Y-chromosome microdeletion screening, FISH techniques and other genetic methods have helped in finding the causes of infertility in azoospermic or severe oligoazoospermic cases in the last decade.
Objective: In the present study, we characterized an abnormal Y-chromosome, detected as a mosaic in an azoospermic male ascertained for infertility. Materials and Methods: Chromosome analysis, using G, Q and C banding techniques and FISH analyses with several different DNA probes specific for Y and X chromosome sequences [XY centromeric α-satellite, Y non-α-satellite III, LSI-probes of the Y chromosome, WCP of Chromosome Y, SRY gene, subtelomeric Xp and Yp, which cover the SHOX (short stature-homeobox containing) gene, and subtelomeric Xq and Yq probes] were performed. A total of 20 sequence tagged sites were analyzed using primer sets specific for the Y-chromosome microdeletion loci. The primers were chosen to cover AZFa, AZFb, and AZFc regions as well as the SRY gene.
Results: Chromosome analysis revealed a gonosomal mosaicism of monosomy X (51%) and a pseudodicentric Y (49%) chromosome: mos 45, X/46,X psu dic (Y) (qter→p11.32 :: p11.2→qter). Molecular genetic studies did not show deletions in the AZFabc regions, but a deletion was found in the short arms of the dicentric Y chromosome. One of the SRY genes was also missing.
Conclusion: The azoospermia in this patient could be explained by either the presence of an abnormal Y-chromosome that cannot form a sex vesicle (which appears to be necessary for the completion of meiosis process and the formation of sperm), or the presence of the 45, X cell line.
Keywords: Dicentric Y chromosome, Dic (Yq), FISH, Mosaicism, Azoospermia
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Type of Study: Original Article |
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