abstract bachground and aim: mutation analysis of mitochondrial genome and brca genes are helpful in the early diagnosis of familial breast cancers. in this study, we investigated mitochondrial common deletion and brca mutations through multiplex pcr and clinical parameters for the detection of familial breast cancers in archival breast cancer samples. methods: the multiplex pcr was conducted o...

Objective: The aim of this retrospective cohort study is to evaluate the carrier frequency spinal muscular atrophy (SMA) among pregnant women and their partners admitted our clinic for routine pregnancy follow-up. Methods: included who were informed about SMA disease screening at first trimester accepted undergo SMA. Carrier was carried out using DNA extracted from peripheral blood with a quant...

Abstract Successful initiation of the B-cell receptor (BCR) signaling, and subsequent antigen-encounter in germinal centers are both marked by sharp increases CD25 surface-expression. Likewise, oncogenic signaling leukemia (B-ALL) lymphoma induces CD25-surface expression. While is known as an IL2-receptor chain on T- NK-cells, significance its expression B-cells was unclear. We discovered that,...

Background: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. Various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,XY ...

autosomal dominant congenital cataract (adcc) is the most common form of inherited cataracts and accounts for one-third of congenital cataracts. heterozygous null mutations in the crystallin genes are the major cause of the adcc. this study aims to detect the mutational spectrum of four crystallin genes, cryba1/a3 , crybb1 , crybb2 and crygd in an iranian family. genomic dna was isolated from w...

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...

background: deletions of the daz (deleted in azoospermia) genes within the human y chromosome's azfc region are the most common cause of spermatogenesis failure. these deletions are usually assessed by analyses of genomic dna ex­tracted from peripheral leukocytes. daz genes are expressed in male germ cells. in this prospective study, we investigated daz expression and deletion in 102 consecutiv...

telomerase and systems controlling their activity have been of great attention. there are controversies regarding the role of the alternative splicing forms of the human telomerase reverse transcriptase (htert), the catalytic subunit of telomerase. therefore, the correlation between telomerase enzyme activity, the abundance of alternatively spliced variants of htert and doubling time of a serie...

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...