Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder

Abstract Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a novel homozygous missense mutation c.1070 G > T (p.Gly357Val) in exon 6 of these patients. The mutation was found to be reported for the first time in MLD patients. The data can update the mutation profile and contribute toward improved clinical management and counseling of MLD patients.

The construction of a short gene by a very fast, modified, and simplified gene synthesis and the analysis of various effects on this synthesis

We have constructed a short gene with a single step assembly PCR without any additional amplification primers with Taq and Pfu polymerases. Since the Taq polymerase is a common and conventional enzyme for PCR reactions, we have analyzed various effects on its efficiency. Eventually, we have been able to synthesize the gene in less than 40 minutes by Taq polymerase.

Translational selection on SHH genes

Codon usage bias has been observed in various organisms. In this study, the correlation between SHH genes expression in some tissues and codon usage features was analyzed by bioinformatics. We found that translational selection may act on compositional features of this set of genes.