Prevalence of Phenylthiocarbamide (PTC) Taste Sensitivity and Colour Blindness in Tengger Tribe Population, Ranupani Village, Senduro, Lumajang

The taste of sensitivity of phenylthiocarbamide (PTC), is autosomal dominant trait inherited while the colour blindness is a sex linked genetic trait on the X chromosome. The purpose of this study was to determine the distribution of taster and non taster phenotypes, prevalence of color blindness, frequency of taster and non taster alleles, and frequency of color blind alleles, as well as pedigree analysis in non taster and color blind families. The research was conducted on the Tengger tribe, in Ranupani village, Senduro, Lumajang. Determination of the sample is carryout randomly. Detection of the ability to taste PTC was respondents to taste the PTC solution from the lowest concentration of 0.32mg/L (P13) to the highest concentration of 1300 mg/L (P1). Color blindness detection by the Ishihara method. The results of the study showed that the distribution of the taster was 98.1% while the non-taster was 1.9%. The allele frequency of the dominant taster (T) was 0.86 and the recessive allele non taster (t) is 0.14. The prevalence of color blindness in the population of the Tengger tribe was 0.63% and the allele frequency for color blindness was 0.013. The pedigree analysis of non taster family showed that non taster individuals were born from taster couple (Tt) or from couple of non taster (tt) with tasters (Tt) heterozigot. While the pattern of inheritance of color blindness was criss-cross inheritance pattern, which is passed from mother to son.

Multi-species host range of staphylococcal phages isolated from wastewater

The host range of bacteriophages defines their impact on bacterial communities and genome diversity. Here, we characterize 94 novel staphylococcal phages from wastewater and establish their host range on a diversified panel of 117 staphylococci from 29 species. Using this high-resolution phage-bacteria interaction matrix, we unveil a multi-species host range as a dominant trait of the isolated staphylococcal phages. Phage genome sequencing shows this pattern to prevail irrespective of taxonomy. Network analysis between phage-infected bacteria reveals that hosts from multiple species, ecosystems, and drug-resistance phenotypes share numerous phages. Lastly, we show that phages throughout this network can package foreign genetic material enclosing an antibiotic resistance marker at various frequencies. Our findings indicate a weak host specialism of the tested phages, and therefore their potential to promote horizontal gene transfer in this environment.

Implantálható kardioverter-defibrillátor által sikeresen megszüntetett malignus kamrai ritmuszavar dystrophia myotonicában szenvedő betegben

Összefoglaló. A dystrophia myotonica (DM) multiszisztémás, autoszomális domináns módon öröklődő, többségében felnőttkori izombetegség, melynek incidenciája 1 : 8000. A betegség kapcsán fellépő izomszöveti degeneráció a harántcsíkolt izomszövet átépülése mellett a szívizomszövetet is érinti, ami fontos oki szerepet játszik az érintett betegek csökkent várható élettartamában. A DM-ben szenvedők halálozásának közel egyharmadáért a cardiovascularis okok tehetők felelőssé. Esetriportunkban egy 52 éves, korábban kritikus bradycardia és I. fokú atrioventricularis blokk miatt pacemakerimplantáción átesett, DM-mel diagnosztizált nőbeteg kardiológiai utánkövetését mutatjuk be. A hirtelen szívhalál rizikóstratifikációja céljából elvégzett invazív elektrofiziológiai vizsgálat során kamrafibrilláció lépett fel, így a korábban implantált pacemakerelektródák mellé sokkelektróda került beültetésre, a pacemakerkészüléket implantálható kardioverter-defibrillátorra (ICD) cseréltük. Az 1 éves ICD-kontrollvizsgálat során azt találtuk, hogy a beültetés óta 22, tartós kamrai tachycardiával járó epizód lépett fel, melyek közül a készülék valamennyit sikeresen terminálta. Az eset bemutatásával szeretnénk rámutatni arra, hogy a magas cardiovascularis rizikócsoportba tartozó DM-betegek azonosítása kiemelkedő fontosságú lehet a hirtelen szívhalál megelőzése érdekében. Orv Hetil. 2021; 162(46): 1856–1858. Summary. Myotonic dystrophy (DM) is one of the most frequent adulthood diseases of the skeletal muscles, which develops multisystemic features and shows autosomal dominant trait. In DM, tissue degeneration affects not only the skeletal, but the cardiac muscle, too. In one third of the patients, the cause of death is of cardiac origin. We report on our patient’s case, who was diagnosed with DM at the age of 52, in whom episodes of critical bradycardia with first-degree atrioventricular block was detected, resulting in a pacemaker implantation. Invasive cardiac electrophysiological study was performed, during which ventricular fibrillation was registered. A shock electrode was added to the previously implanted pacemaker, enabling defibrillation in case of detection of a sustained ventricular arrhythmia. During the 1-year follow-up, 22 episodes of sustained ventricular tachycardia were identified, with the device successfully terminating the malignant arrhythmias. Our case shows that electrophysiological study and the succeeding implantation of an implantable cardiac defibrillator is highly important in identifying and terminating ventricular arrhythmias in high-risk DM patients. Orv Hetil. 2021; 162(46): 1856–1858.

Molecular Analysis and Genome Sequencing of SARS-Cov-2 during Second Wave 2021 Revealed Variant Diversity in India

SARS-CoV-2 variants rapid emergence has posed critical challenge of higher transmission and immune escape causing serious threats to control the pandemic. The present study was carried out in confirmed cases of SARS-CoV-2 patients to elucidate the prevalence of SARS-CoV-2 variant strain. We performed RT-PCR using extracted RNA from the nasopharyngeal swabs of suspected Covid-19 patients. Confirmed positive cases with CT<25 were subjected to whole-genome sequencing to track the prevalence of the virus in the Malwa region of Punjab. The presence of B.1, B.1.1.7, B.1.351, B.1.617.1, B.1.617.2, AY.1 and other unidentified variants of SARS-CoV-2 was found in the studied population. Among all the variants, B.1.1.7 (UK variant) and B.1.617.2 (delta-Indian variant) was found to be the most dominant variant in the population and was found majorly in Patiala followed by Ludhiana, SBS Nagar, Mansa and Sangrur. In addition to this, sequencing results also observed that the dominant trait was more prevalent in male population and age group 21-40 years. The B.1.1.7 and B.1.617.2 variant of SARS-CoV-2 is replacing the wild type (Wuhan Strain) and emerging as the dominant variant in Punjab.

NB-LRR-encoding genes conferring susceptibility to organophosphate pesticides in sorghum

Organophosphate is the commonly used pesticide to control pest outbreak, such as those by aphids in many crops. Despite its wide use, however, necrotic lesion and/or cell death following the application of organophosphate pesticides has been reported to occur in several species. To understand this phenomenon, called organophosphate pesticide sensitivity (OPS) in sorghum, we conducted QTL analysis in a recombinant inbred line derived from the Japanese cultivar NOG, which exhibits OPS. Mapping OPS in this population identified a prominent QTL on chromosome 5, which corresponded to Organophosphate-Sensitive Reaction (OSR) reported previously in other mapping populations. The OSR locus included a cluster of three genes potentially encoding nucleotide-binding leucine-rich repeat (NB-LRR, NLR) proteins, among which NLR-C was considered to be responsible for OPS in a dominant fashion. NLR-C was functional in NOG, whereas the other resistant parent, BTx623, had a null mutation caused by the deletion of promoter sequences. Our finding of OSR as a dominant trait is important not only in understanding the diversified role of NB-LRR proteins in cereals but also in securing sorghum breeding free from OPS.

Peridermal fruit skin formation in Actinidia sp. (kiwifruit) is associated with genetic loci controlling russeting and cuticle formation

Background The skin (exocarp) of fleshy fruit is hugely diverse across species. Most fruit types have a live epidermal skin covered by a layer of cuticle made up of cutin while a few create an outermost layer of dead cells (peridermal layer). Results In this study we undertook crosses between epidermal and peridermal skinned kiwifruit, and showed that epidermal skin is a semi-dominant trait. Furthermore, backcrossing these epidermal skinned hybrids to a peridermal skinned fruit created a diverse range of phenotypes ranging from epidermal skinned fruit, through fruit with varying degrees of patches of periderm (russeting), to fruit with a complete periderm. Quantitative trait locus (QTL) analysis of this population suggested that periderm formation was associated with four loci. These QTLs were aligned either to ones associated with russet formation on chromosome 19 and 24, or cuticle integrity and coverage located on chromosomes 3, 11 and 24. Conclusion From the segregation of skin type and QTL analysis, it appears that skin development in kiwifruit is controlled by two competing factors, cuticle strength and propensity to russet. A strong cuticle will inhibit russeting while a strong propensity to russet can create a continuous dead skinned periderm.

Inheritance of evolved thiocarbamate resistance in Rigid Ryegrass (Lolium rigidum) populations from Australia

Populations of rigid ryegrass (Lolium rigidum Gaudin) from southern Australia have evolved resistance to the thiocarbamate herbicide prosulfocarb. The inheritance of prosulfocarb resistance was explored by crossing R and S individuals. In all families within each cross, except 16.2, the response of the F1 were intermediate between the parents, suggesting that resistance is inherited as a single, partially dominant trait. For 16.2, the response of the F1 was more similar to the susceptible parent, suggesting resistance may be a recessive trait in this population. Segregation at the discriminating dose of 1200 g a.i. ha−1 prosulfocarb in populations 375-14 fitted the ratio (15:1) consistent with two independent dominant alleles; 198-15 fitted a ratio (13:3) for two independent alleles, one dominant and one recessive; and EP162 fitted a ratio (9:7) for two additive dominant alleles. In contrast segregation of population 16.2 fitted a (7:9) ratio consistent with two independent recessive alleles contributing to prosulfocarb resistance. Four different patterns of resistance to prosulfocarb were identified in different resistant populations, with inheritance as a dominant allele, dominant and recessive, additive dominant and as an independent recessive allele. This suggests there are several different mechanisms of prosulfocarb resistance present in L. rigidum.

Genetic architecture underlying HPPD-inhibitor resistance in a Nebraska Amaranthus tuberculatus population

BACKGROUND: Amaranthus tuberculatus is a primary driver weed species throughout the American Midwest. Inhibitors of 4-hydroxyphenylpyruvate dioxygenase (HPPD) are an important chemistry for weed management in numerous cropping systems. Here, we characterize the genetic architecture underlying the HPPD-inhibitor resistance trait in an A. tuberculatus population (NEB). RESULTS: Dose-response studies of an F1 generation identified HPPD-inhibitor resistance as a dominant trait with a resistance/sensitive ratio of 15.0-21.1. Segregation analysis in a pseudo-F2 generation determined the trait is moderately heritable (H2 = 0.556), and complex. Bulk segregant analysis and validation with molecular markers identified two quantitative trait loci (QTL), one on each of Scaffold 4 and 12. CONCLUSIONS: Resistance to HPPD-inhibitors is a complex, largely dominant trait within the NEB population. Two large-effect QTL were identified controlling HPPD-inhibitor resistance in A. tuberculatus. This is the first QTL mapping study to characterize herbicide resistance in a weedy species.

Huntington’s disease: Pathophysiology and therapeutic intervention

Huntington's disease [HD] is a progressive neurodegenerative condition characterized by movement disorder, cognitive impairment, and behavioral symptoms. It is inherited as an autosomal-dominant trait and normally manifests in mid-adulthood. HD is common in India and parts of Central Asia, with a prevalence rate of 4–8 per 100 000 in most European populations. Juvenile onset affects around 5–10% of cases, with signs appearing before the age of 20. Patients may show more parkinsonian symptoms such as bradykinesia, dystonia, tremors and a cognitive deficit in place of chorea. There is no therapy that can completely stop the condition from progressing. There are medications that can help to regulate chorea, dystonia, mental, and psychiatric disturbances. The study covers the disease's pathophysiology, as well as plants and phytochemicals that have been shown to be beneficial.

Natural phage communities crosslink different species within the genus Staphylococcus

The importance of the bacteriophage host range builds on its role as an innate barrier, which defines the phages’ impact on bacterial communities and genome diversity. Yet, little is known about host range natural patterns. We characterize 94 novel staphylococcal phages from wastewater and establish their host range on a diversified panel of 117 staphylococci from 29 species. Using this high-resolution phage-bacteria interaction matrix, we unveil a multi-species host range as a dominant trait of the isolated staphylococcal phages. Phage genome sequencing shows this pattern to prevail irrespective of taxonomy. Network analysis between phage-infected bacteria revealed that hosts from multiple species, ecosystems, and drug-resistance phenotypes share numerous phages. This could promote genetic mobilization facilitated by many transfer routes. Lastly, we demonstrate that phages throughout this network package foreign genetic material at various frequencies. Our findings defy a strong host specialism of phages and highlight great possibilities for horizontal gene transfer.