how to cite this article: heidari mm , khatami m, pourakrami j. novel point mutations in frataxin gene in iranian patients with friedreich’s ataxia. iran j child neurol. 2014 winter; 8(1):32-36.   objective friedreich’s ataxia is the most common form of hereditary ataxia with autosomal recessive pattern. more than 96% of patients are homozygous for gaa repeat extension on both alleles in the fi...

Mycoplasma pneumoniae is usually susceptible to macrolides, but macrolide-resistant strains have been found frequently in recent years. Mutations in domain V of the 23S rRNA gene of M. pneumoniae interfere with the binding of macrolides to rRNA and mediate macrolide resistance. In this study, we developed a rapid and inexpensive method that combines nested PCR (nPCR), single-strand conformation...

The genetic diversity of Jamunapari goats (Capra hircus) was investigated using an optimized non-radioactive polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) method to detect α-lactalbumin polymorphism in a sample of 50 goats. Our data show that PCR-SSCP is an appropriate tool for evaluating genetic variability in Jamunapari goats. Polymorphism was detected in the sa...

We successfully cloned the Wistar-Imamichi (WI) rat growth hormone gene (GenBank accession: GQ890681), which contained 5 exons and 4 introns. Using the polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) technique, a novel missense substitution single nucleotide polymorphism was identified and tested for Hardy-Weinberg equilibrium with the χ(2) test. This gene fragment ...

BACKGROUND Trichomonas vaginalis is the agent of urogenital tract infection that causes human trichomoniasis with some serious health complications. More understanding about genetic features of the parasite can be helpful in the study of the pathogenesis, drug susceptibility and epidemiology of the infection. For this end, we conducted analysis of the actin gene of T. vaginalis by applying the ...

PURPOSE The PAX6 gene mutation in aniridia has been studied in various ethnic patients, but not well studied in the Chinese population. In the present study, we have investigated the PAX6 gene mutation in a Chinese family with congenital aniridia. METHODS Total genomic DNA was isolated from peripheral blood of three aniridia patients (who also suffered from bilateral congenital cataracts) and...