objective: globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of dpy19l2 or mutations in spata16 and pick1 genes associated with globozoospermia. the aim of this study was to analyze the dpy19l2 gene deletion using polymerase chain reaction technique for t...

Background: HOX genes are an exceedingly preserved family of homeodomain-involving transcription factors. They are related to a number of malignancies, comprising acute myeloid leukemia (AML). This study aimed to evaluate the effect of HOXB1 7bp deletion mutation on HOXB1gene expression in 36 individuals. Materials and Methods: The present cross-sectional study was done on a large Iranian fami...

introduction: duchene/ becker (dmd/bmd) muscular dystrophy is the most frequent neuromuscular disease in children which is inherited as an x-linked recessive trait. the disease is caused by partial deletion in dystrophin gene. we developed a rapid and robust method for direct identification of female carriers of deletions and duplications in the dystrophin gene, in order to prevent the affected...

familial adenomatous polyposis (fap) is responsible for < 1% of colorectal cancer (crc) cases and is inherited as an autosomal dominant trait. patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (apc) tum...

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...

spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disorder caused by the loss of α-motor neurons in the spinal cord. the survival motor neuron (smn) protein is encoded by 2 genes, smn1 and smn2. the most frequent mutation is the biallelic deletion of exon 7 of the smn1 gene. smn2 cannot compensate for the loss of smn1, due to the exclusion of exon 7. carrier frequency ...

Breast Cancer (BC) is considered as one of the most important causes of death worldwide. Previous studies showed that apolipoprotein B mRNA- editing catalytic polypeptide-like 3 (APOBEC3) gene deletion significantly increased the risk of BC risk in Chinese and European women. The present study aimed to assess the possible impact of APOBEC3 deletion and the risk of BC in a sample of Iranian popu...

background: the majority of α-thalassemi mutations are deletions of one or both α-globin genes. since the iranian populaion is a mixture of different ethnic groups, frequency and distribution of globin mutations in various regions of the country need to be clarified. the aim of this study was to determine the common alpha globin gene deletions among individuals with hypochromic microcytic anemi...

objective(s):  coronary artery disease (cad) which may lead to myocardial infarction (mi) is a complex one. great effort has been devoted to identification of genes that increase susceptibility to cad or provide protection. a 21-bp deletion in the mef2a gene, which encodes a member of the myocyte enhancer factor 2 family of transcription factors, has been reported in patients of a single pedigr...