Upregulation of the ERG11 gene in Candida krusei by azoles

Candida species are the agents of local and systemic opportunistic infections and have become a major cause of morbidity and mortality in the last few decades. Azole resistance in Candida krusei [C. krusei] species appears to be the result of gene alterations in relation to the ergosterol biosynthesis pathway, as well as efflux pumps. The main objective of this study was to examine the RNA expression of ERG 11 in C. krusei which had been identified to be resistance to azoles. The ERG11 mRNA expression was investigated in four Iranian clinical isolates of C krusei, which were resistant to fluconazole and itraconazole by a semiquantitative RT-PCR. The mRNA expression levels were observed in all four isolates by this technique. Furthermore, it was found that ERG11 expression levels vary among four representative isolates of C. krusei. Although DNA sequencing revealed no significant genetic alteration in the ERG 11 gene, one heterozygous polymorphism was observed in two isolates, but not in others. This polymorphism was found in the third base of codon 313 for Thr [ACT>ACC]. Major Even though such a polymorphism creates a new Earl restriction site, no significant effect was found on the resistance of C. krusei to azoles. Results of this investigation are consistent with previous studies and may provide further evidence for the genetic heterogeneity and complexity of the ergosterol biosynthetic pathway or efflux pumps

No evidence for association between Amelogenesis imperefecta and candidate genes

Amelogenesis imperfecta [AI] is an inherited tooth disorder. Despite the fact that up to now, several gene mutations in MMP20, ENAM, AMELX and KLK4 genes have been reported to be associated with AI, many other genes suggested to be involved. The main objective of this study was to find the mutations in three major candidate genes including MMP20, ENAM and KLK4 responsible for AI from three Iranian families with generalized hypoplastic phenotype in all teeth. All exon/intron boundaries of subjected genes were amplified by polymerase chain reaction and subjected to direct sequencing. One polymorphisms was identified in KLK4 exon 2, in one family a homozygous mutation was found in the third base of codon 22 for serine [TCG>TCT], but not in other families. Although these base substitutions have been occurred in the signaling domain, they do not seem to influence the activity of KLK4 protein. Our results might support the further evidence for genetic heterogeneity; at least, in some AI cases are not caused by a gene in these reported candidate genes

Dermatoglyphic assessment in down and klinefelter syndromes

Dermatoglyphics are the dermal ridge configurations on the digits, palms and soles. Dermatoglyphic polymorphism results from the co-operation of genetic and environmental factors. The Dermatoglyphic analysis is a valuable completion of initial diagnosis of some syndromes genetically determined. Our objective was to assess dermatoglyphics study results against standard chromosomal analysis in Down and Klinefelter syndromes. In this study we applied clear plastic tape and graphite powder for finger and palm prints of 90 persons. Cy-togenetic study was also performed for patients with Down [n=29] and Klinefelter [n=22] syndromes and 39 normal individuals who served as the control group. Dermatoglyphic investigations indicated that in Down syndrome, simian line, ulnar loops, whorl, t", t" and f were significant, whereas arch and interdigital III pattern were more indicative for Klinefelter syndrome. Dermatoplyphic can be used both as an initial diagnostic step and for screening purposes