Research Article
Carrier Frequency of Congenital Leptin Deficiency in Central Punjab Region of Pakistan
| Muhammad Wasim* and Nida Fakhar | |
| Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences Lahore, Pakistan | |
| Corresponding Author : | Muhammad Wasim Institute of Biochemistry and Biotechnology University of Veterinary and Animal Sciences, Lahore, Pakistan Tel:923224990977 E-mail: mm.waseemjee@gmail.com |
| Received date: March 24, 2015; Accepted date: April 25, 2015; Published date: April 30, 2015 | |
| Citation: Wasim M, Fakhar N (2015) Carrier Frequency of Congenital Leptin Deficiency in Central Punjab Region of Pakistan. J Obes Weight Loss Ther 5:260. doi:10.4172/2165-7904.1000260 | |
| Copyright: © 2015 Wasim M, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. | |
Abstract
Congenital leptin deficiency is a rare autosomal recessive disorder, characterized by hyperphagia and early onset obesity. Worldwide data on this disorder includes only 25 cases out of this only six pathogenic mutations have been reported in the leptin gene. Most of these cases have been reported in Central Punjab region of Pakistan, harboring a (p.Gly133fsX145) mutation in homozygous state. This mutation has founder effect in Arain caste from Central Punjab region of Pakistan. In this study, carrier frequency of (p.Gly133fsX145) mutation was determined in 50 individuals belonging to Arain caste. Analysis of amplicons contains p.Gly133fsX145 mutation were analyzed by different techniques such as SSCP, Heteroduplex analysis and sequencing. Mutation was not found in any individual studied. This finding suggests that frequency of (p.Gly133fsX145) mutation in Arain caste is not as higher as its predicted founder effect in congenitally obese children of this caste was anticipated.
