ABSTRACT
<p><b>AIM</b>To determine the frequency of genetic deletions within the azoospermia factors in Egyptian infertile males.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>Four out of the total 33 (12 %) men had Yq(11) 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.</p><p><b>CONCLUSION</b>The present study supports the hypothesis that the Yq(11) encompasses genetic determinants of stature besides genes controlling spermatogenesis.</p>
Subject(s)
Adult , Humans , Male , Chromosomes, Human, Y , Genetics , Egypt , Follicle Stimulating Hormone , Blood , Gene Deletion , Infertility, Male , Genetics , Pathology , Luteinizing Hormone , Blood , Polymerase Chain Reaction , Sertoli Cells , Pathology , Syndrome , Testis , Pathology , Testosterone , BloodABSTRACT
In this study, relative allele frequencies of 4 short tandem repeats [STR] loci in 47 unrelated subjects from Egyptian population as a primary step for forming a nationwide database was reported. The sample represented various geographical, ethnic and religious backgrounds that constituted contemporary Egyptian population. DNA was extracted from whole blood using salting out method. The allele patterns in Egyptian sample showed high levels of heterozygosity over 74% in 3 loci. The interpopulation differences were least detected with Caucasians and most with Asian and Hispanic Americans