chronic granulomatous disease (cgd), a rare inherited primary immunodeficiency disorder,  is  caused  by  mutation  in  any  one  of  the  genes  encoding  components   of nicotinamide adenine dinucleotide phosphate (nadph)-oxidase enzyme. ncf2 gene (encoding p67-phox component) is one of them and its mutation is less common to cause cgd (around 5-6%). here, we assessed mutation analysis of ncf...

Mitochondria are membrane-enclosed organelle found in most eukaryotic cells, which known as power house in cells. This organelle transforms energy into forms that are usable by the cell. The most common psychiatric disorders such as depression and anxiety can be linked to mitochondrial disorders. Furthermore, mutations of mitochondrial or nuclear DNA (mtDNA and nDNA, respectively) have been lin...

Background: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. Methods: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decr...

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...

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...

Albinism and leucism are phenotypes resulting from impaired melanin pigmentation in the skin appendages. However, of eyes remains unaffected leucism. Here, using transmission electron microscopy, we show that leucistic morph Texas rat snake ( Pantherophis obsoletus lindheimeri ) lacks both melanophores xanthophores its exhibits a uniform ivory white color generated by iridophores collagen fiber...

Introduction: Peutz-Jeghers syndrome (PEUTZ-JEGHERS SYNDROME; PJS; OMIM#175200) is hereditary tumor and characterized by the occurrence of hamartomatous polyps gastrointestinal tract, melanocytic pigmentation skin mucous membranes, as well a high predisposition to malignant tumors various locations. Despite fact that clinical features PJS are currently understood, nature variability in phenotyp...

Transposon mutagenesis and single-gene deletion are two methods applied in genome-wide gene knockout in bacteria (1,2). Although transposon mutagenesis is less time consuming, less costly, and does not require completed genome information, there are two weaknesses in this method: (1) the possibility of a disparate mutants in the mixed mutant library that counter-selects mutants with decreased c...