Length-weight relationship of eleven species of marine catfishes from the northern Arabian Sea coast of Pakistan

This study records length-weight relationships （LWRs） for eleven commercially important marine catfish species of the family Ariidae （sea catfishes） and Plotosidae （eel catfishes） from the northern Arabian Sea coast of Pakistan. The specimens were sampled from December 2014 to November 2015, using bottom trawls with various mesh sizes by commercial vessels. The species were Nemapteryx caelatus, Sciades sona, Arius gagora, Batrachocephalus mino, Neturna thalassina, N. bilineata, Osteogeneiosus militaris, Plicofollis dussumieri, P. tenuispinis, Plotosus limbatus, and P. lineatus. Of the eleven species, two species A. gagora and N. bilineata were recorded for the first time and LWRs for four species A. gagora, N. bilineata, S. sona, and B. mino still have no data in the FishBase database. In addition, new maximum length for each of the three species N. bilineata, O. militaris andB. mino was also found.

Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients

AIM: To find the CYP1 B1 mutations associated with primary congenital glaucoma(PCG) in Pakistani consanguineous pedigrees. METHODS: After getting informed consent, 11 consanguineous pedigrees belonging to different ethnic groups were enrolled. Detailed medical history was recorded and pedigrees were drawn. The standard ophthalmological examination was done to characterize the phenotype. Genomic DNA was extracted from 10 mL whole blood and coding exons and exon intron boundaries of CYP1 B1 gene were directly sequenced. Bioinformatics tools were used to model the mutant protein and predict the effect of novel variants on protein structure and function. RESULTS: Sequencing analysis revealed 5 different CYP1 B1 variants in 7 families(7/11; 64%), including two novel variants. A common mutation, p.R390 H was found in four families, whereas p.P437 L was found once in a family. Two novel variants, a homozygous non sense variant p.L13* and a compound heterozygous variant, p.P350 T along with p.V364 M were segregating with PCGin two families. All the patients had the variable onset and severity of the disease. The success rate of early clinical interventions was observed dependent on mutation types and position. Two different haplotypes were associated with frequently found mutation, p.R390 H. CONCLUSION: Identification of novel CYP1 B1 variants reassert the genetic heterogeneity of Pakistani PCG patients. The patients with missense mutations show severe phenotypic presentations and poor vision after surgical interventions as compare to patients with null variants. This may help to better understand the role of CYP1 B1 mutations in the development of PCG and its course of pathogenicity.