Volume 6, Issue 1 (March 2004) 6, 53–57;
Molecular study on Y chromosome microdeletions in Egyptian males with idiopathic infertility
M. K. El Awady, S. F. El Shater, E. Ragaa, K. Atef, I. M. Shaheen, N. A. Megiud
1.Department of Biomedical Technology, 2.Department of Research on Children with Special Needs, National Research Center Dokki, Cairo 12622, Egypt 3.Department of Dermatology, Venereology and Andrology, Faculty of Medicine Al-Azhar University, Cairo, Egypt
Advance online publication 1 March 2004
Abstract |
Aim: To determine the frequency of genetic deletions within the azoospermia factors in Egyptian infertile males. Methods: The Yq microdeletions in 33 infertile males with undetectable chromosomal anomalies were examined by mutiplex polymerase chain reaction (PCR). Deletions were confirmed using single PCR amplifications. Results: Four out of the total 33 (12 %) men had Yq11 microdeletions, thus supporting the average reported figures in other populations. Three of those 4 cases had single short tandem sequence deletions with discrete histological findings of their testes. Single sY272 deletion within AZFc was associated with Sertoli cell only syndrome, whereas a patient with isolated sY84 deletion within AZFa had immature testicular structure. The remaining case had a large deletion in AZFa-c and short stature. Conclusion: The present study supports the hypothesis that the Yq11 encompasses genetic determinants of stature besides genes controlling spermatogenesis.
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