scholarly journals Biological Properties and Genetic Characteristics of Francisella tularensis Strains Isolated in the Territory of the Rostov Region in 2020

2021 ◽  
pp. 134-140
Author(s):  
M. V. Tsimbalistova ◽  
V. M. Sorokin ◽  
N. V. Aronova ◽  
A. S. Anisimova ◽  
N. L. Pichurina ◽  
...  
Keyword(s):  
Francisella Tularensis ◽  
Molecular Genetic ◽  
Biological Properties ◽  
Snp Markers ◽  
Pcr Analysis ◽  
Snp Analysis ◽  
Genetic Characteristics ◽  
Tularensis Subsp ◽  
Rostov Region ◽  
Natural Foci

Objective of the study was to investigate biological properties and genetic characteristics of tularemia agent strains isolated from natural foci of the Rostov Region in 2020.Materials and methods. Field material from natural foci of the Rostov Region was examined by serological, bacteriological, biological, and molecular-genetic methods. Cultural-morphological, biochemical, antigenic and pathogenic properties of isolated cultures were studied. Protein profles were obtained through MALDI-TOF MS using mass spectrometer Autoflex speed III Bruker Daltonics and Flex Control of Biotyper software. The genetic characteristics of the strains were determined by VNTR and INDEL typing and SNP analysis.Results and discussion. Six strains of tularemia pathogen were isolated from mouse-like rodents using biological method. The investigation of their biological features and data of PCR analysis and INDEL typing with canonical markers showed that all strains are typical representatives of the Francisella tularensis subsp. holarctica biovar EryR. VNTR typing by six genetic loci revealed that all strains belong to four individual genotypes. The strain isolated in 2020 in the Salsky district was identical to the strain which was isolated in the same area in 1989. Based on the whole genome sequencing of two strains, we established that they are closest to the cultures isolated in Turkey (2009, 2012) and Khanty-Mansiysk (2013) by the studied set of SNP markers. Thus, we found that both identical (or closely related) clones of the tularemia agent and new strains with unique genotypes which previously were not described for the Rostov Region can circulate in natural foci of this region for a long period of time.

Biological properties and molecular and genetic characteristics of plague microbe strains circulating in sandy natural plague foci of the Republic of Kazakhstan

Bacteriology ◽  
2020 ◽  
Vol 5 (3) ◽  
pp. 25-33
Author(s):  
Z.Zh. Abdel ◽  
◽  
Т.V. Меkа-Меchеnkо ◽  
А.А. Аbdirasilova ◽  
R.S. Musagaliyeva ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Biological Properties ◽  
Genetic Characteristics ◽  
Central Asian ◽  
Genetic Features ◽  
Natural Foci ◽  
Parasitic System ◽  
The Republic ◽  
Main Component ◽  
Atypical Strains

Since 2010, an active course of epizootics with the release of the plague pathogen, isolated from hosts and vectors has been established in 8 autonomous foci of the plague from 14 autonomous foci of the Central Asian plague focus in Kazakhstan. It was necessary to take into account the parameters of variability of the main component of the parasitic system – the plague microbe in the process of certification of landscape and epizootological zoning of natural foci of plague in Kazakhstan. The aim of the work was to study the phenotypic and genetic properties of strains of the plague microbe isolated in natural sandy plague foci of Kazakhstan. Materials and methods. The work used 1196 strains of Yersinia pestis isolated over the past 10 years (2010–2019) from natural sandy plague foci, strain passports, literature sources, data on certification of plague foci in Kazakhstan. The study of the strains was carried out by bacteriological, serological and molecular genetic methods. Results. Certification and typification of the territories of sandy plague foci were carried out, taking into account the phenotypic and molecular-genetic properties of Y. pestis strains isolated from 12 autonomous foci of the Central Asian plague focus of Kazakhstan in 2010–2019. According to the results of the study, 84 atypical strains were identified. As a result of the analysis, 18 genotypes were identified among the studied strains, of which 13 (72.2%) were unique and did not repeat in the sample. The remaining 5 genotypes formed 5 clusters, combining 20 strains (60.6%) and all strains were phylogenetically assigned to representatives of the Mediaevalis biovar. Key words: plague microbe, plague foci, phenotypic features, molecular genetic features

scholarly journals The influence of seasonal influenza viruses biological features on the effectiveness of development strains for live influenza vaccine

2019 ◽  
pp. 24-34
Author(s):  
N. V. Larionova ◽  
I. V. Kiseleva ◽  
E. A. Bazhenova ◽  
E. P. Grigorieva ◽  
L. G. Rudenko
Keyword(s):  
Influenza Vaccine ◽  
Vaccine Development ◽  
Molecular Genetic ◽  
Biological Properties ◽  
Influenza Viruses ◽  
Biological Characteristics ◽  
Phenotypic Properties ◽  
Hyperimmune Serum ◽  
Genetic Characteristics ◽  
Effective Development

Aim. Evaluation of the efficiency of the method of reassortant strains for live influenza vaccine development and ways to optimize it, taking into account the differences in the current epidemic influenza viruses by key biological characteristics.Materials and methods. Influenza viruses — candidates for seasonal LAIVs, MDVs for Russian LAIVs A/Leningrad/134/17/57 (H2N2) and B/USSR/60/69. The vaccine strains development in developing chicken embryos included reassortment, selective passages at low temperature in the presence of hyperimmune serum to the MDV, several stages of reassortants cloning, their virological and molecular genetic characteristics. Epidemic influenza viruses and LAIVs strains were evaluated by their ability to reproduction at temperatures beyond optimal values, by sensitivity to serum inhibitors.Results. The assessment of phenotypic properties used in reassortment epidemic viruses is carried out. Presented the data on the efficiency of development reassortant strains for LAIV depending on the biological properties of circulating epidemic influenza viruses: their temperature-resistant, cold-sensitive phenotype, inhibitor resistance, and receptor specificity.Conclusion. Based on the assessment of the influence of the biological characteristics of the epidemic viruses, the rational methodological techniques for the most effective development of reassortants for LAIV are selected.

scholarly journals Genotyping of Francisella tularensis subsp. holarctica from Hares in Germany

2020 ◽  
Vol 8 (12) ◽  
pp. 1932
Author(s):  
Jörg Linde ◽  
Timo Homeier-Bachmann ◽  
Alexandra Dangel ◽  
Julia M. Riehm ◽  
David Sundell ◽  
...  
Keyword(s):  
Francisella Tularensis ◽  
Genetic Relatedness ◽  
Sequence Data ◽  
Whole Genome ◽  
Tularensis Subsp ◽  
Genetic Profiling ◽  
Snp Typing ◽  
Natural Foci ◽  
Typing Methods ◽  
Human Infections

Francisella tularensis is the causative agent of the zoonotic disease tularemia. In Germany, most human infections are caused by contact with infected hares. The aim of this study was to characterize Francisella tularensis subsp. holarctica strains isolated from hares in Germany and to develop bioinformatics tools to analyze their genetic relatedness. In total, 257 German isolates—obtained mainly from hares (n = 233), other vertebrate animals, and ticks, but also from humans (n = 3)—were analyzed within this study. Publically available sequence data from 49 isolates were used to put our isolates into an epidemiological context and to compare isolates from natural foci and humans. Whole-genome sequences were analyzed using core-genome Multi-Locus-Sequence-Typing, canonical Single Nucleotide Polymorphism (SNP) typing and whole-genome SNP typing. An overall conformity of genotype clustering between the typing methods was found, albeit with a lower resolution for canonical single SNP typing. The subclade distribution, both on local and national levels, among strains from humans and hares was similar, suggesting circulation of the same genotypes both in animals and humans. Whilst close to identical isolates of the same subclade were found distributed over large areas, small geographical foci often harbored members of different subclades. In conclusion, although genomic high-resolution typing was shown to be robust, reproducible and allowed the identification of highly closely related strains, genetic profiling alone is not always conclusive for epidemiological linkage of F. tularensis strains.

scholarly journals INFLUENCE OF BLOOD GROUPS, CAST AND BLG GENES ON PRODUCTIVITY OF THE SHEEP AND GOATS OF THE ALTAY REPUBLIC

2018 ◽  
Vol 48 (4) ◽  
pp. 63-71
Author(s):  
G. M. Goncharenko ◽  
N. V. Grishina ◽  
T. S. Khoroshilova ◽  
I. V. Romanchuk ◽  
T. B. Kargachakova ◽  
...  
Keyword(s):  
Genetic Similarity ◽  
Molecular Genetic ◽  
Live Weight ◽  
Molecular Genetic Analysis ◽  
Pcr Analysis ◽  
Dna Diagnosis ◽  
Genetic Characteristics ◽  
High Productivity ◽  
The Republic ◽  
Cast Gene

The use of genetic markers in addition to traditional methods of animal selection with desirable genotypes allows to increase the share of animals with high productivity in the next generations and ensures improvement of breeding efficiency. Genetic features of the Prikatun type of the Gorno-Altay semi-fine wool breed of sheep and the white downy goat breed in the Republic of Altay were studied by the method of immunogenetic and molecular genetic analysis. The frequency of antigenic factors was identified and the index of genetic similarity between goats and sheep and their separate herds was calculated. Gene polymorphism of β-lactoglobulin (BLG) and calpastatin (CAST) was revealed by the method of DNA diagnosis. Population and genetic characteristics of the herds was studied by the genes specified. Associative genotype relation to productivity and quality of the produce obtained was analyzed. The index of genetic similarity between the goats and the sheep was at the level of 0.713, between the separate herds of the goats the index was 0.861. The ratio of genotypes in the BLG gene determined by PCR analysis in the white downy goats was S1S1– 16.1%; S1S2– 50.6%; S2S2– 33.3%. In the Prikatun type two genotypes were identified in this gene: BB with the frequency of 59.2%, and AB – 40.8%. Two different alleles were identified in the CAST gene of sheep (M and N). The genotype MM was the predominant variant in the CAST sheep gene, whose frequency was 88%. The frequency of occurrence of animals with NN genotype was 1%, MN – 11%. It was shown that the gene equilibrium in the herds was not broken, χ2= 0.931. It was noted that heterozygous goats (S1S2) by BLG gene had a higher live weight by 0.30-0.61 kg compared to other variants of BLG gene (p<0.05). It was also found that lambs with genotype MM of the CAST gene had a higher live weight by 5.5 kg than MN heterozygotes (p< 0.01). However, this difference was not revealed in other age and sex groups of animals.

scholarly journals Clinical and Genetic Characteristics of Autosomal Recessive Polycystic Kidney Disease in Oman

2020 ◽  
Author(s):  
Intisar Al Alawi ◽  
Elisa Molinari ◽  
Issa Al Salmi ◽  
Fatma Al Rahbi ◽  
Adhra Al Mawali ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Clinical Diagnosis ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Pcr Analysis ◽  
Genetic Profile ◽  
Polycystic Kidney ◽  
Genetic Characteristics

Abstract Background There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver-associated morbidity and mortality in Oman. We describe the clinical and genetic profile of cohort of ARPKD patients.Methods We studied patients with a clinical diagnosis of ARPKD ( n =40) and their relatives [parents ( n =24) and unaffected siblings ( n =10)] from 32 apparently unrelated families, who were referred to the National Genetic Centre in Oman between January 2015 and December 2018. Genetic analysis of PKHD1 was performed through next generation sequencing (NGS) and Sanger sequencing.Results A clinical diagnosis of ARPKD was made prenatally in 8 patients, 21 were diagnosed during infancy (0-1 year), 9 during early childhood (2-8 years) and 2 at later ages (9-13 years). Clinical phenotypes included polycystic kidneys, hypertension, hepatic fibrosis and splenomegaly. 24 patients had documented chronic kidney disease. 24 out of the 32 families had a family history suggesting an autosomal recessive pattern of inherited kidney disease, and there was known consanguinity in 21 families (66%). A molecular genetic diagnosis with biallelic PKHD1 mutations was confirmed in 38 patients from 30 different families, giving a detection rate of 94%. Two unrelated patients remained genetically unsolved. In all of the solved cases, only four different PKHD1 missense pathogenic variants were identified: c.107C>T, p.(Thr36Met); c.406A>G, p.(Thr136Ala); c.4870C>T, p.(Arg1624Trp) and c.9370C>T, p.(His3124Tyr) located in exons 3, 6, 32 and 58, respectively. The c.406A>G, p.(Thr136Ala) missense mutation was detected homozygously in one family and heterozygously with a c.107C>T, p.(Thr36Met) allele in 5 other families. Overall, the most commonly detected pathogenic allele was c.107C>T; (Thr36Met), which was seen in 24 families.Conclusion Molecular genetic screening of PKHD1 in clinically suspected ARPKD cases produced a high diagnostic rate. The four PKHD1 missense variants identified suggest there may be common founder alleles in the Omani population. Cost effective targeted PCR analysis of these specific alleles can be a useful diagnostic tool for future cases of suspected ARPKD in Oman.

scholarly journals Clinical and Genetic Characteristics of Autosomal Recessive Polycystic Kidney Disease in Oman

2020 ◽  
Author(s):  
Intisar Al Alawi ◽  
Elisa Molinari ◽  
Issa Al Salmi ◽  
Fatma Al Rahbi ◽  
Adhra Al Mawali ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Clinical Diagnosis ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Pcr Analysis ◽  
Genetic Profile ◽  
Polycystic Kidney ◽  
Genetic Characteristics

Abstract Background: There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver-associated morbidity and mortality in Oman. We describe the clinical and genetic profile of cohort of ARPKD patients. Methods: We studied patients with a clinical diagnosis of ARPKD (n=40) and their relatives (parents (n=24) and unaffected siblings (n=10)) from 32 apparently unrelated families, who were referred to the National Genetic Centre in Oman between January 2015 and December 2018. Genetic analysis of PKHD1 if not previously known was performed using targeted exon PCR of known disease alleles and Sanger sequencing. Results: A clinical diagnosis of ARPKD was made prenatally in 8 patients, 21 were diagnosed during infancy (0-1 year), 9 during early childhood (2-8 years) and 2 at later ages (9-13 years). Clinical phenotypes included polycystic kidneys, hypertension, hepatic fibrosis and splenomegaly. 24 patients had documented chronic kidney disease (median age 3 years). 24 out of the 32 families had a family history suggesting an autosomal recessive pattern of inherited kidney disease, and there was known consanguinity in 21 families (66%). A molecular genetic diagnosis with biallelic PKHD1 mutations was known in 18 patients and newly identified in 20 other patients, totalling 38 patients from 30 different families. Two unrelated patients remained genetically unsolved. The different PKHD1 missense pathogenic variants were: c.107C>T, p.(Thr36Met); c.406A>G, p.(Thr136Ala); c.4870C>T, p.(Arg1624Trp) and c.9370C>T, p.(His3124Tyr) located in exons 3, 6, 32 and 58, respectively. The c.406A>G, p.(Thr136Ala) missense mutation was detected homozygously in one family and heterozygously with a c.107C>T, p.(Thr36Met) allele in 5 other families. Overall, the most commonly detected pathogenic allele was c.107C>T; (Thr36Met), which was seen in 24 families. Conclusions: Molecular genetic screening of PKHD1 in clinically suspected ARPKD cases produced a high diagnostic rate. The limited number of PKHD1 missense variants identified in ARPKD cases suggests these may be common founder alleles in the Omani population. Cost effective targeted PCR analysis of these specific alleles can be a useful diagnostic tool for future cases of suspected ARPKD in Oman.

PSXI-6 Genome-wide SNP analysis of three Azerbaijani sheep breeds

2021 ◽  
Vol 99 (Supplement_3) ◽  
pp. 245-245
Author(s):  
Arsen V Dotsev ◽  
Tatiana E Deniskova ◽  
Vugar A Bagirov ◽  
Ahmed I Abilov ◽  
Henry Reyer ◽  
...  
Keyword(s):  
Quality Control ◽  
Genetic Variability ◽  
Molecular Genetic ◽  
R Package ◽  
Fixation Index ◽  
Snp Analysis ◽  
Genetic Characteristics ◽  
Sheep Breeds ◽  
History Of ◽  
Control Procedures

Abstract Azerbaijani sheep breeds are of particular interest since this region is in close proximity to the Fertile Crescent – the proposed place of domestication. Molecular genetic studies of local breeds will help shed light on the history of sheep breeding. Our work was aimed to identify genetic characteristics of three sheep breeds from Azerbaijan: Bozakh (n = 19), Karabakh (n = 16) and Mazekh (n = 19). For genotyping, we used Illumina OvineHD BeadChip (AgResearch) containing around 600 thousand SNPs. PLINK 1.9 was used to perform quality control. Genetic diversity parameters and pairwise FST distances were calculated in R package diveRsity. After all quality control procedures, including LD pruning, 286663 SNPs were selected for subsequent analyses. PCA revealed that, while all the breeds formed their own clusters, only 1.62% of genetic variability was explained by the first component (PC1). Cluster analysis conducted in Admixture 1.3 showed that Bozakh was derived from Karabakh and Mazekh breeds. However, based on CV error, the number of clusters (K) judged to be one. Pairwise FST distances were quite low, with highest value of 0.017 between Karabakh and Mazekh and lowest (0.006) between Mazekh and Bozakh breeds. The global fixation index (FST) was 0.01, which indicated that 99% of genetic variability was due to within breeds differences. Expected heterozygosity was similar in Bozah and Mazeh (0.363±0.000 and 0.360±0.000, respectively) and a slight lower in Karabakh breed (0.353±0.000). We observed neither heterozygotes excess nor deficiency in all of the studied breeds. The inbreeding coefficient (Fis), ranged from 0.001 in Karabakh to 0.011 in Mazekh sheep. Our results demonstrate that the studied Azerbaijani sheep breeds are genetically close, but carry specific genomic components that allows consider them as valuable genetic resources. The study was funded by the RSF 21-66-00007 (genotyping) and the Russian Ministry of Science and Higher Education 0445-2019-0024 (expedition studies).

scholarly journals DNA authentication of brewery products: basic principles and methodological approaches

2019 ◽  
pp. 364-374 ◽  
Author(s):  
Lev Oganesyants ◽  
Ramil Vafin ◽  
Aram Galstyan ◽  
Anastasia Ryabova ◽  
Sergey Khurshudyan ◽  
...  
Keyword(s):  
Hordeum Vulgare ◽  
Nucleic Acids ◽  
Dna Extraction ◽  
Nuclear Dna ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Snp Markers ◽  
Pcr Analysis ◽  
Malting Barley ◽  
Barley Malt

Beer DNA authentication is the process of authentication by identification of barley malt Hordeum vulgare or its substitutes, as well as hops and yeast. The method is based on molecular genetic analysis of residual quantities of nucleic acids extracted from the cellular debris of the final product. The aim of the study was to analyse scientific and methodical approaches to extraction of residual quantities of beer raw materials nucleic acids and beer DNA authentication for their later application in determining brewing products authenticity. The technological level discloses the method of DNA extraction from wines, modified for extraction of nucleic acids from beer samples. The method includes the following characteristic peculiarities: stage enzymatic hydrolysis of polysaccharides and polypeptides of dissolved lyophilisate, multiple sedimentation and resursuspension of nucleoproteid complex, RNA removal followed by DNA extraction by organic solvents, and additional DNA purification by magnetic particle adsorption. This review presents the analysis of genetic targets used as molecular markers for gene identification of malting barley varieties and beer DNA authentication. We also provided the interpretation of PCR analysis of Hordeum vulgare varieties and samples of commercial beer. Data on SSR- and SNP-markers of Hordeum vulgare nuclear DNA, used for barley varieties identification and potentially suitable for beer DNA authentication, are also presented. We also analysed genetic targets used in malting barley substitute detection, as well as hops and yeast identification in beer. Data on correlation of amplified DNA targets with beer quality indicators were systematised.

scholarly journals Paired-End Sequence Mapping Detects Extensive Genomic Rearrangement and Translocation during Divergence of Francisella tularensis subsp. tularensis and Francisella tularensis subsp. holarctica Populations

2006 ◽  
Vol 188 (16) ◽  
pp. 5904-5914 ◽  
Author(s):  
Michael P. Dempsey ◽  
Joseph Nietfeldt ◽  
Jacques Ravel ◽  
Steven Hinrichs ◽  
Robert Crawford ◽  
...  
Keyword(s):  
Francisella Tularensis ◽  
Pcr Analysis ◽  
Comparative Genome Hybridization ◽  
Wild Type ◽  
Genome Sequences ◽  
Tularensis Subsp ◽  
Sequence Mapping ◽  
Genome Content ◽  
Paired End Sequencing ◽  
Selection Event

ABSTRACT Comparative genome hybridization of the Francisella tularensis subsp. tularensis and F. tularensis subsp. holarctica populations have shown that genome content is highly conserved, with relatively few genes in the F. tularensis subsp. tularensis genome being absent in other F. tularensis subspecies. To determine if organization of the genome differs between global populations of F. tularensis subsp. tularensis and F. tularensis subsp. holarctica, we have used paired-end sequence mapping (PESM) to identify regions of the genome where synteny is broken. The PESM approach compares the physical distances between paired-end sequencing reads of a library of a wild-type reference F. tularensis subsp. holarctica strain to the predicted lengths between the reads based on map coordinates of two different F. tularensis genome sequences. A total of 17 different continuous regions were identified in the F. tularensis subsp. holarctica genome (CRholar c tica) which are noncontiguous in the F. tularensis subsp. tularensis genome. Six of the 17 different CRholarctica are positioned as adjacent pairs in the F. tularensis subsp. tularensis genome sequence but are translocated in F. tularensis subsp. holarctica, implying that their arrangements are ancestral in F. tularensis subsp. tularensis and derived in F. tularensis subsp. holarctica. PCR analysis of the CRholarctica in 88 additional F. tularensis subsp. tularensis and F. tularensis subsp. holarctica isolates showed that the arrangements of the CRholarctica are highly conserved, particularly in F. tularensis subsp. holarctica, consistent with the hypothesis that global populations of F. tularensis subsp. holarctica have recently experienced a periodic selection event or they have emerged from a recent clonal expansion. Two unique F. tularensis subsp. tularensis-like strains were also observed which likely are derived from evolutionary intermediates and may represent a new taxonomic unit.

scholarly journals Clinical and Genetic Characteristics of Autosomal Recessive Polycystic Kidney Disease in Oman

2020 ◽  
Author(s):  
Intisar Al Alawi ◽  
Elisa Molinari ◽  
Issa Al Salmi ◽  
Fatma Al Rahbi ◽  
Adhra Al Mawali ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Clinical Diagnosis ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Pcr Analysis ◽  
Genetic Profile ◽  
Polycystic Kidney ◽  
Genetic Characteristics

Abstract Introduction There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver-associated morbidity and mortality in Oman. We describe the clinical and genetic profile of cohort of ARPKD patients. Methods We studied patients with a clinical diagnosis of ARPKD ( n =40) and their relatives [parents ( n =24) and unaffected siblings ( n =10)] from 32 apparently unrelated families, who were referred to the National Genetic Centre in Oman between January 2015 and December 2018. Genetic analysis of PKHD1 was performed through next generation sequencing (NGS) and Sanger sequencing. Results A clinical diagnosis of ARPKD was made prenatally in 8 patients, 21 were diagnosed during infancy (0-1 year), 9 during early childhood (2-8 years) and 2 at later ages (9-13 years). Clinical phenotypes included polycystic kidneys, hypertension, hepatic fibrosis and splenomegaly. 24 patients had documented chronic kidney disease. 24 out of the 32 families had a family history suggesting an autosomal recessive pattern of inherited kidney disease, and there was known consanguinity in 21 families (66%). A molecular genetic diagnosis with biallelic PKHD1 mutations was confirmed in 38 patients from 30 different families, giving a detection rate of 94%. Two unrelated patients remained genetically unsolved. In all of the solved cases, only four different PKHD1 missense pathogenic variants were identified: c.107C>T, p.(Thr36Met); c.406A>G, p.(Thr136Ala); c.4870C>T, p.(Arg1624Trp) and c.9370C>T, p.(His3124Tyr) located in exons 3, 6, 32 and 58, respectively. The c.406A>G, p.(Thr136Ala) missense mutation was detected homozygously in one family and heterozygously with a c.107C>T, p.(Thr36Met) allele in 5 other families. Overall, the most commonly detected pathogenic allele was c.107C>T; (Thr36Met), which was seen in 24 families. Conclusion Molecular genetic screening of PKHD1 in clinically suspected ARPKD cases produced a high diagnostic rate. The four PKHD1 missense variants identified suggest there may be common founder alleles in the Omani population. Cost effective targeted PCR analysis of these specific alleles can be a useful diagnostic tool for future cases of suspected ARPKD in Oman.

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