scholarly journals Allele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs

Animals ◽  
2019 ◽  
Vol 9 (10) ◽  
pp. 844 ◽  
Author(s):  
Larissa R. Andrade ◽  
Amanda M. Caceres ◽  
Anelize S. Trecenti ◽  
Claudia Valeria S. Brandão ◽  
Micaella G. Gandolfi ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Genetic Disease ◽  
Mutation Frequency ◽  
Progressive Retinal Atrophy ◽  
Cocker Spaniel ◽  
High Mutation Frequency ◽  
Retinal Atrophy ◽  
History Of ◽  
Eye Examination ◽  
Mutation Region

Progressive retinal atrophy (PRA) due to the c.5G>A mutation in the progressive rod–cone degeneration (PRCD) gene is an important genetic disease in English cocker spaniel (ECS) dogs. Because the prevalence of this disease has not been verified in Brazil, this study aimed to evaluate the allele frequency of the c.5G>A mutation in the PRCD gene. Purified DNA from 220 ECS dogs was used for genotyping, of which 131 were registered from 18 different kennels and 89 were unregistered. A clinical eye examination was performed in 28 of the genotyped animals; 10 were homozygous mutants. DNA fragments containing the mutation region were amplified by PCR and subjected to direct genomic sequencing. The prcd-PRA allele frequency was 25.5%. Among the registered dogs, the allele frequency was 14.9%; among the dogs with no history of registration, the allele frequency was 41%. Visual impairment was observed in 80% (8/10) of the homozygous mutant animals that underwent clinical eye examination. The high mutation frequency found in this study emphasizes the importance of genotyping ECSs as an early diagnostic test, especially as part of an informed breeding program, to avoid clinical cases of PRA.

scholarly journals SPONTANEOUS UNSTABLE UNC-22 IV MUTATIONS IN C. ELEGANS VAR. BERGERAC

Genetics ◽  
1984 ◽  
Vol 108 (4) ◽  
pp. 859-877
Author(s):  
D G Moerman ◽  
R H Waterston
Keyword(s):  
Mutation Frequency ◽  
Spontaneous Mutation ◽  
Phenotypic Effect ◽  
C Elegans ◽  
High Mutation Frequency ◽  
Mutator Activity ◽  
Discrete Site ◽  
Unstable Mutations ◽  
Spontaneous Mutation Frequency ◽  
Forward Mutation

ABSTRACT This paper describes a mutator system in the nematode Caenorhabditis elegans var. Bergerac for the gene unc-22. Of nine C. elegans and two C. briggsae strains tested only the Bergerac BO strain yielded mutant animals at a high frequency and the unc-22 IV gene is a preferred mutational target. The forward spontaneous mutation frequency at the unc-22 locus in Bergerac BO is about 1 × 10-4, and most of these spontaneous unc-22 mutations revert at frequencies between 2 × 10-3 and 2 × 10-4. Both the forward mutation frequency and the reversion frequency are sensitive to genetic background. Spontaneous unc-22 mutations derived in a Bergerac background and placed in a primarily Bristol background revert at frequencies of <10-6. When reintroduced into a Bergerac/Bristol hybrid background the mutations once again become unstable. The mutator activity could not be localized to a discrete site in the Bergerac genome. Nor did mutator activity require the Bergerac unc-22 gene as a target since the Bristol unc-22 homolog placed in a Bergerac background also showed high mutation frequency. Intragenic mapping of two spontaneous unc-22 alleles, st136 and st137, place both mutations in the central region of the known unc-22 map. However, these mutations probably recombine with one another, suggesting that the unstable mutations can occur in more than one site in unc-22. Examination of the phenotypic effect of these mutations on muscle structure indicates that they are less severe in their effect than a known amber allele. We suggest that this mutator system is polygenic and dispersed over the nematode genome and could represent activity of the transposable element Tc1.

scholarly journals X-chromosomal STR based genetic polymorphisms and demographic history of Sri Lankan ethnicities and their relationship with global populations

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Nandika Perera ◽  
Gayani Galhena ◽  
Gaya Ranawaka
Keyword(s):  
Allele Frequency ◽  
Demographic History ◽  
Evolutionary Genetics ◽  
Haplotype Frequency ◽  
Allele Frequency Distribution ◽  
Sri Lankan ◽  
Frequency Distributions ◽  
Autosomal Str ◽  
History Of ◽  
Multiplex System

AbstractA new 16 X-short tandem repeat (STR) multiplex PCR system has recently been developed for Sr Lankans, though its applicability in evolutionary genetics and forensic investigations has not been thoroughly assessed. In this study, 838 unrelated individuals covering all four major ethnic groups (Sinhalese, Sri Lankan Tamils, Indian Tamils and Moors) in Sri Lanka were successfully genotyped using this new multiplex system. The results indicated a high forensic efficiency for the tested loci in all four ethnicities confirming its suitability for forensic applications of Sri Lankans. Allele frequency distribution of Indian Tamils showed subtle but statistically significant differences from those of Sinhalese and Moors, in contrast to frequency distributions previously reported for autosomal STR alleles. This suggest a sex biased demographic history among Sri Lankans requiring a separate X-STR allele frequency database for Indian Tamils. Substantial differences observed in the patterns of LD among the four groups demand the use of a separate haplotype frequency databases for each individual ethnicity. When analysed together with other 14 world populations, all Sri Lankan ethnicities except Indian Tamils clustered closely with populations from Indian Bhil tribe, Bangladesh and Europe reflecting their shared Indo-Aryan ancestry.

Dematiaceous fungal invasion of a bandage contact lens

2021 ◽  
Vol 14 (2) ◽  
pp. e240029
Author(s):  
Anirban Dutta ◽  
Sujata Das ◽  
Himanshu Sekhara Behera ◽  
Ruchi Mittal
Keyword(s):  
Contact Lens ◽  
Periodic Acid ◽  
Significant Risk ◽  
Dematiaceous Fungi ◽  
Periodic Acid Schiff ◽  
Bandage Contact Lens ◽  
History Of ◽  
Eye Examination ◽  
The Right

A 61-year-old man presented with a 1-month history of reduced vision, redness and pain in the right eye. Examination revealed a bandage contact lens (BCL) in situ with diffuse, pigmented deposits. On removal, the underlying cornea was found to be clear. He had been prescribed the BCL 6 months ago following a deep-seated corneal foreign body removal and was unable to follow-up subsequently.The BCL was sent for microbiological and histopathological evaluation. The culture revealed growth of Cladosporium spp, a dematiaceous fungi. Periodic acid–Schiff staining revealed infiltration of pigmented fungal filaments into the substance of the BCL.While contact lens deposits are a frequent finding, fungal deposits are seldom noted. Irregular follow-up and improper lens maintenance are significant risk factors for the same. Early identification and subsequent removal of the lens is vital to prevent infection of the underlying ocular structures.

scholarly journals A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy

PLoS ONE ◽  
2013 ◽  
Vol 8 (8) ◽  
pp. e72122 ◽  
Author(s):  
Saija J. Ahonen ◽  
Meharji Arumilli ◽  
Hannes Lohi
Keyword(s):  
Frameshift Mutation ◽  
Progressive Retinal Atrophy ◽  
Retinal Atrophy

scholarly journals A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever

2014 ◽  
Vol 1 (1) ◽  
pp. 4 ◽  
Author(s):  
Louise M Downs ◽  
Berit Wallin-Håkansson ◽  
Tomas Bergström ◽  
Cathryn S Mellersh
Keyword(s):  
Novel Mutation ◽  
Golden Retriever ◽  
Progressive Retinal Atrophy ◽  
Retinal Atrophy

scholarly journals Huntington`s Chorea - a Case Report and review of literature

2016 ◽  
Vol 9 (4) ◽  
Author(s):  
Muhammad Afzal ◽  
Anjum Iqbal ◽  
Nadeem Azam ◽  
Koukab Javed ◽  
Ghana Shahid
Keyword(s):  
Serum Alkaline Phosphatase ◽  
Cerebral Atrophy ◽  
Serum Copper ◽  
The Body ◽  
Early Dementia ◽  
Similar Disease ◽  
History Of ◽  
Eye Examination ◽  
Laboratory Investigations ◽  
Naval Hospital

A 45 years old gentleman presented to Medical Clinic of Naval Hospital (PNS Hafeez) Islamabad in January 2001 with choreform movements of the body and early dementia of six months duration. He had a strong family history of similar disease, which included his father and two brothers. On neurological examination he had choreoathetoid movements and features of early dementia. His chest was clinically clear and examination of heart and abdomen was normal. Eye examination did not reveal any evidence of Kayser-Fleischer rings (seen in Wilson`s disease). Laboratory investigations showed haemoglobin 13.8 Gm/dl, WBC 7.7 x10e9/L, serum urea 32 mg/dl, serum sodium 139 mmol/L serum potassium 3.8 mmol/L, ASO titre less than 200 IU/ml, serum bilirubin 6 umol/L, ALT 102 U/L, serum alkaline phosphatase 155 U/L, serum caeruloplasmin 42 mg/dl and serum copper 164 mmol/L (WNL). X-ray chest was normal and CT scan brain showed early generalized cerebral atrophy. He was managed with haloperidol (0.5mg) 12 hourly, Procyclidine (kemadrin, 5mg) 8 hourly and Propranolol (Inderal 10mg) 8 hourly. He was discharged from hospital with relative improvement after 2 weeks.

scholarly journals Visual Function of Drivers and its Relation to the Occurrence of Road Traffic Accidents in Saudi Arabia

2021 ◽  
Vol 9 (B) ◽  
pp. 1016-1020
Author(s):  
Sulaiman Aldakhil ◽  
Godwin Ovenseri-Ogbomo ◽  
Majid Moafa ◽  
Waleed Alghamdi ◽  
Muhammed Alluwimi ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Binocular Vision ◽  
Visual Function ◽  
Traffic Accidents ◽  
Road Traffic ◽  
Health Examination ◽  
Road Traffic Accidents ◽  
Good Visual Acuity ◽  
History Of ◽  
Eye Examination

BACKGROUND: The mortality rate due to road traffic accidents (RTA) is significantly high in Saudi Arabia (SA) compared to other countries. The visual function which includes good visual acuity (VA) and binocular vision are very important factors that can contribute to the incidence of RTA. AIM: The aim of this study is to investigate the association between refractive errors (REs) and the RTA in SA. METHODS: A total of 354 participants (mean age 22.67 ± 3.22 years) were recruited randomly to participate in this study from the population of Qassim district. Data collected using the questionnaire included participants’ age, sex, and education level, ocular and medical history, driving history as well as history of RTA. Ocular health examination including VA, RE measurements, and binocular vision function vision was measured and analyzed. RESULTS: The results of this study show that 48.3% of drivers had some form of REs with 3.4% being visually impaired. 217 (61.3%) of participants have had an RTA, and 119 (54.9%) of them have had more than two accidents in the past two years. The findings show no significant association between the occurrence of RTA and uncorrected REs or binocular vision dysfunction. CONCLUSION: Our data showed significantly higher rate of RTA among Saudi drivers which is much higher than any country in the world. The current Saudi regulations for obtaining driving license need to be modified, with implementing a comprehensive eye examination prior to acquiring or renewing drivers’ licenses.

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