Frequency distribution of PRNP polymorphisms in the Pakistani population

Imran, Muhammad; Mahmood, Saqib; Hussain, Rashid; Abid, Noman Bin; Lone, Khalid P.

doi:10.1016/j.gene.2011.10.029

Cited by 5 publications

(2 citation statements)

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“…An insertion of 3 octapeptide repeats (3-OPRI) was found in heterozygous state in an individual and the extent of homozygosity at the 129 codon was 63%. These results indicate that Pakistani population is susceptible to prion disorders [84]. The octapeptide repeats region of human PRNP consists of 5 repeats which are designated as R1 through R5.…”

Section: Resultsmentioning

confidence: 99%

An overview of human prion diseases

Imran

Mahmood

2011

Virol J

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153

109

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Prion diseases are transmissible, progressive and invariably fatal neurodegenerative conditions associated with misfolding and aggregation of a host-encoded cellular prion protein, PrPC. They have occurred in a wide range of mammalian species including human. Human prion diseases can arise sporadically, be hereditary or be acquired. Sporadic human prion diseases include Cruetzfeldt-Jacob disease (CJD), fatal insomnia and variably protease-sensitive prionopathy. Genetic or familial prion diseases are caused by autosomal dominantly inherited mutations in the gene encoding for PrPC and include familial or genetic CJD, fatal familial insomnia and Gerstmann-Sträussler-Scheinker syndrome. Acquired human prion diseases account for only 5% of cases of human prion disease. They include kuru, iatrogenic CJD and a new variant form of CJD that was transmitted to humans from affected cattle via meat consumption especially brain. This review presents information on the epidemiology, etiology, clinical assessment, neuropathology and public health concerns of human prion diseases. The role of the PrP encoding gene (PRNP) in conferring susceptibility to human prion diseases is also discussed.

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Section: Resultsmentioning

confidence: 99%

An overview of human prion diseases

Imran

Mahmood

2011

Virol J

Self Cite

153

109

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“…is found within a single exon. 2,3 Previous studies have reported that the coding variations of the mammalian PRNP gene are associated with TSE susceptibility, but the bovine PRNP coding sequences is excluded. 2 In humans, an M129V polymorphism of the PRNP gene coding sequence is strongly correlated with susceptibility to variant CJD.…”

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confidence: 99%

Correlation between the Insertion/Deletion Mutations of Prion Protein Gene and BSE Susceptibility and Milk Performance in Dairy Cows

Hu¹,

Huai²,

Pan³

et al. 2013

Infection International

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Objective To investigate the 23 bp and 12 bp insertion/deletion (indel) mutations within the bovine prion protein (PRNP) gene in Chinese dairy cows, and to detect the associations of two indel mutations with BSE susceptibility and milk performance. Methods Based on bovine PRNP gene sequence, two pairs of primers for testing the 23 bp and 12 bp indel mutations were designed. The PCR amplification and agarose electrophoresis were carried out to distinguish the different genotypes within the mutations. Moreover, based on previous data from other cattle breeds and present genotypic and allelic frequencies of two indels mutations in this study, the corrections between the two indel mutations and BSE susceptibility were tested, as well as the relationships between the mutations and milk performance traits were analyzed in this study based on the statistical analyses. Results In the analyzed Chinese Holstein population, the frequencies of two “del” alleles in 23 bp and 12 bp indel muations were more frequent. The frequency of haplotype of 23del-12del was higher than those of 23del- 12ins and 23ins-12del. From the estimated r2 and D’ values, two indel polymorphisms were linked strongly in the Holstein population (D’ = 57.5%, r2 = 0.257). Compared with the BSE-affected cattle populations from the reported data, the significant differences of genotypic and allelic frequencies were found among present Holstein and some BSE-affected populations (P < 0.05 or P < 0.01). Similarly, there were significant frequency distribution differences of genotypes and alleles among Chinese Holstein and several previous reported healthy dairy cattle (P < 0.05 or P < 0.01). Moreover, association of genotype and combined genotypes of two indel polymorphisms with milk performance and resistant mastitis traits were analyzed in Holstein population, but no significant differences were found (P > 0.05). Conclusions These observations revealed that the influence of two indel mutations within the bovine PRNP gene on BSE depended on the breed and they did not affect the milk production traits, which layed the foundation for future selection of resistant animals, and for improving health conditions for dairy breeding against BSE in China.

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Genetics of prion diseases

Lloyd¹,

Mead²,

Collinge³

2013

Current Opinion in Genetics & Development

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Prion diseases are transmissible, fatal neurodegenerative diseases that include scrapie and bovine spongiform encephalopathy (BSE) in animals and Creutzfeldt–Jakob disease (CJD) in human. The prion protein gene (PRNP) is the major genetic determinant of susceptibility, however, several studies now suggest that other genes are also important. Two recent genome wide association studies in human have identified four new loci of interest: ZBTB38-RASA2 in UK CJD cases and MTMR7 and NPAS2 in variant CJD. Complementary studies in mouse have used complex crosses to identify new modifiers such as Cpne8 and provided supporting evidence for previously implicated genes (Rarb and Stmn2). Expression profiling has identified new candidates, including Hspa13, which reduces incubation time in a transgenic model.

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Frequency distribution of PRNP polymorphisms in the Pakistani population

Cited by 5 publications

References 68 publications

An overview of human prion diseases

An overview of human prion diseases

Correlation between the Insertion/Deletion Mutations of Prion Protein Gene and BSE Susceptibility and Milk Performance in Dairy Cows

Genetics of prion diseases

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