background: in recent studies, partial deletions of the azoospermia factor c region (azfc) on the y-chromosome have been detected in males with infertility problems. however, there has been a lot of debate about their significance. in order to study such deletions, a simple but accurate method for their detection was applied in this study. methods: we present data obtained from the multiplex li...

duchene and becker muscular dystrophy (dmd and bmd) are x-linked conditions that result from a defect in the dystrophin gene located on xp21. dmd is the most frequent neuromuscular disease in humans (1/3500 male newborns). in approximately 65% of dmd and bmd patients, deletions in the dystrophin gene have been identified as the molecular determinant. population-based variations in frequency and...

In the course of evolution Y chromosome has acquired an important role in sex determination owing to the differentiation of the SRY gene from its X homologue. Apart from the functionally specialized SRY gene, the Y chromosome harbors several genes responsible for normal fertility. Three different spermatogenic loci namely AZFa, AZFb and AZFc located in the long arm of Y chromosome (Yq) has the ...

background: in human, about 25% of implanted embryos are losing 1-2 week following attachment to the uterus. a subset of this population will have three or more consecutive miscarriages which define as repeated pregnancy loss (rpl). introducing the assisted reproductive technologies (arts) made a chance for infertile couples to solve their childless problem. objective:  this study was conducted...

the mitochondrial dna (mtdna) may play an essential role in the pathogenesis of the respiratory chain complex activities in neurodegenerative disorders such as huntington’s disease (hd). research studies have been conducted to determine the possible levels of mitochondrial defect (deletion) in hd patients and the interaction between the expanded huntingtin gene as a nuclear gene and mitochondri...

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 met...

TOBIAS is a combinatorial testing tool, aimed at the production of large test suites. In this paper, TOBIAS is applied to conformance tests for model-based specifications (expressed with assertions, pre and post-conditions) and associated implementations. The tool takes advantage of the executable character of VDM or JML assertions which provide an oracle for the testing process. Executing larg...

objective: alpha-thalassemia is one of the most prevalent hemoglobin disorders in the world and it is a common hereditary condition caused by deletion of one or more α-globin genes. common α-thalassemia deletions like 3.7 kb, 4.2 kb, 20.5 kb and med can be detected by multiplex pcr. there are, however, some unknown deletions that can not be detected by the mentioned method or even by direct dna...

competition [37] is suggested to study the principles of competition in their most generic form [8–10]. Consider a complex competitive system, which has a large number of autonomous elements engaged in competition with each other. The evolution of a competitive system involves a process of determining a winner and a loser for competition between any two elements of the system. The non-conservat...