ABSTRACT
The untreated surface water for drinking and domestic use is an alarming situation to public health especially in prevalence of antibiotics resistant bacteria. This investigation aimed to isolate and identify the antibiotic resistance bacteria in underground water samples in district Dera Ismail Khan, Pakistan. The underground water samples were collected from four different places using hand pumps [Khyber town, riverside, Gomal University and united town]. Cultured on nutrient agar media, identified by Gam staining and biochemical tests. There after antibiotic resistance assay were performed by measuring zone of inhibition of different antibiotics by disc diffusion method. Six different bacterial colonies were isolated and identified as Enterobacteriaceae, Serriata specie, Proteues, Pseudomonas, all these bacterial colonies were 33% resistant to chloramphenicol with and 100% resistant to amoxicillin. Some colonies were also considered as resistant, according to the criteria of National Committee for Clinical Records [NCCL] that less than 10mm zone of inhibition are considered as resistant. Subsequently, the chloramphenicol resistance bacteria were analyzed for their ability to transfer resistant gene to sensitive bacteria. In in-vitro method, an isolate M1b [resistant] was found capable to transfer resistance gene to M1a isolate [sensitive] in nutrient rich environment. It was concluded that antibiotics resistance bacteria found in underground water, moreover capable of transferring the antibiotic resistant character to suitable recipient i.e. normal flora of the body or to other pathogens by conjugation
ABSTRACT
Objectives: Brachdactyly a genetic disorder associated with the abnormal development of metacarpals, phalanges or both which results in the shortening of hands and feet. Mutations in the contributing genes has been recognized with the majority of the investigated syndromic form of brachdactyly. The current study was proposed to examine mutation in NOG and GDF5 genes in a Pakistani family
Methods: Poly Acrylamide Gel Electrophoresis and Polymerase Chain Reaction was used for the genomic screening and linkage analysis to observe the mutation in genes. The samples were collected from Luckki Marwat district, KPK, while the research study was conducted in the department of Biochemistry, Quaid-IAzam University, Islamabad, Pakistan
Results: After survey, family was identified with brachdactyly type A2 and investigated a heterozygous arginine to glutamine exchange in the growth demarcation factor 5 in all the victim persons. Different types of skeletal dysplasia resulted due to mutation in the GDF5 genes. Novel GDF5 genes mutations were reported with distinct limb malformation and sequencing of coding region revealed that the mildly affected individuals were heterozygous while the harshly affected individuals were homozygous
Conclusion: The current study reported the genetic variability and concluded that the Brachdacytyly type A2 and type B2 resulted due to mutation in GDF5 and NOG genes respectively. A new subtype of brachydactyly [BDB2] was instigated as a result of novel mutations in NOG. The mutation has been reported for the first time in Pakistani population and especially in Pushtoon ethnic population