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Y chromosomal short tandem repeat (Y-STR) haplotype diversity of 180 genetically unrelated male individuals from Sheikh population of Punjab Pakistan was studied by amplifying 17 Y-STR markers through the AmpFISTR®Yfiler™ PCR amplification kit. The analysis of data revealed mean discrimination capacity of 0.6438 and matching probability of 0.3561. Sheikh population was also compared with 11 other populations in order to determine its population relationships which indicated that Punjabi Sheikhs have low genetic resemblance with Indian-Balmiki, UAE [Arab], Yousafzai Pathan from Pakistan, and Pathans from Afghanistan. The data of this study could have valuable application in forensic cases, in population genetics studies, and in strengthening the Y-STR database. [ABSTRACT FROM AUTHOR]

Charcot–Marie–Tooth disease (CMT) is a heritable neurodegenerative disease of peripheral nervous system diseases in which more than 100 genes and their mutations are associated. Two consanguineous families Dera Ghazi Khan (PAK-CMT1-DG KHAN) and Layyah (PAK-CMT2-LAYYAH) with multiple CMT-affected subjects were enrolled from Punjab province in Pakistan. Basic epidemiological data were collected for the subjects. Nerve conduction study (NCS) and electromyography (EMG) were performed for the patients. Whole-exome sequencing (WES) followed by Sanger sequencing was applied to report the genetic basic of CMT. The NCS findings revealed that sensory and motor nerve conduction velocities for both families were <38 m/s. EMG presented denervation, neuropathic motor unit potential, and reduced interference pattern of peripheral nerves. WES identified that a novel nonsense mutation (c. 226 G>T) in GADP1 gene and a previously known missense mutation in MFN2 gene (c. 334 G>A) cause CMT4A (Charcot–Marie–Tooth disease type 4A) in the PAK-CMT1-DG KHAN family and CMT2A (Charcot–Marie–Tooth disease type 2A) in the PAK-CMT2-LAYYAH family, respectively. Mutations followed Mendelian pattern with autosomal recessive mode of inheritance. Multiple sequence alignment by Clustal Omega indicated that mutation-containing domain in both genes is highly conserved, and in situ analysis revealed that both mutations are likely to be pathogenic. We reported that a novel nonsense mutation and a previously known missense mutation in GAPD1 gene and MFN2 gene, respectively, cause CMT in consanguineous Pakistani families. [ABSTRACT FROM AUTHOR]

Summary: Pasteuria penetrans is a hyperparasite with potential as a biological control agent of root-knot nematodes, Meloidogyne spp. In this study two exotic Pasteuria isolates (PP-3 and PP-J) were developed on different Meloidogyne spp. collected from different districts of Punjab, Pakistan. The development of PP-3 and PP-J on different field populations of Meloidogyne spp. showed differential infectivity in terms of nematode reproduction variables. The development of PP-3 and PP-J was maximum on tomato as compared to cucumber. It was probably due to more invasion sites for nematodes present in the tomato roots. However, a bigger root system has not always been a guarantee for development of Pasteuria on Meloidogyne spp. For successful development of Pasteuria , the key parameters are the percentage of infected females, number of endospores (female)−1 or endospores (mg root powder)−1. The results of these parameters are greater in tomato as compared to cucumber. [ABSTRACT FROM AUTHOR]