Phenylketonuria Mutations and Linked Haplotypes in the Lithuanian Population: Origin of the Most Common R408W Mutation

1997 ◽  
Vol 47 (3) ◽  
pp. 155-160 ◽  
Author(s):  
S. Giannattasio ◽  
V. Jurgelevičius ◽  
P. Lattanzio ◽  
L. Cimbalistienė ◽  
E. Marra ◽  
...  
Keyword(s):  
Population Origin ◽  
R408w Mutation

scholarly journals Gentiana asclepiadea L. from Two High Mountainous Habitats: Inter- and Intrapopulation Variability Based on Species’ Phytochemistry

Plants ◽  
2021 ◽  
Vol 10 (1) ◽  
pp. 140
Author(s):  
Zorica Popović ◽  
Dijana Krstić-Milošević ◽  
Milena Marković ◽  
Vera Vidaković ◽  
Srđan Bojović
Keyword(s):  
Secondary Metabolites ◽  
Natural Populations ◽  
Chemical Compounds ◽  
Clear Separation ◽  
Plant Parts ◽  
Intrapopulation Variability ◽  
Population Origin

Natural populations of Gentiana asclepiadea L., located at two mountainous sites, were HPLC-analyzed regarding the contents of six representative secondary metabolites. The contents of swertiamarin (SWM), gentiopicrin (GP), sweroside (SWZ), mangiferin (MGF), isoorientin (ISOOR), and isovitexin (ISOV) were determined in six populations (three per study site), and separately for aboveground and belowground plant parts. PCA showed a clear separation of four groups according to the contents of the analyzed secondary metabolites. Out of six analyzed compounds, five were present in all samples and only one (SWZ) was found in Golija populations (belowground parts) but not in Vlasina populations, and its presence can be indicative of the geolocation of populations. Clear separation of groups was mostly affected by the different contents of chemical compounds in plant parts (aboveground versus belowground) and by the differences related to population origin (higher content of SWM and GP in belowground parts of individuals from Vlasina populations and higher content of MGF and ISOOR of individuals from Golija populations). The results of this study contribute to the spatiochemical profiling of G. asclepiadea populations and a better understanding of inter- and intrapopulation variability of pharmacologically important compounds.

Clinical and Genetic Characteristics of Phenylketonuria in Ryazan Region

2021 ◽  
Vol 29 (1) ◽  
pp. 5-12
Author(s):  
Grigorii I. Yakubovskii ◽  
Olga B. Serebriakova ◽  
Alina G. Yakubovskaya ◽  
Nadezhda V. Ruban ◽  
Angelina A. Lyakhovets
Keyword(s):  
Blood Level ◽  
Phenylalanine Hydroxylase ◽  
Clinical Course ◽  
Molecular Genetic ◽  
Residual Activity ◽  
Speech Development ◽  
Genetic Characteristics ◽  
Frequent Mutations ◽  
R408w Mutation ◽  
Pah Gene

Aim. This investigation seeks to determine the incidence of phenylketonuria in the Ryazan region, assess the spectrum of mutations in the PAH gene (phenylalanine hydroxylase), investigate the interrelationship between the diseases clinical course, the phenylalanine blood level, and the patients genotype. Materials and Methods. The incidence of phenylketonuria was studied based on the data of massive neonatal screening for the period from 2000 to 2019. Molecular genetic examination of mutations was conducted in 39 patients using the allele-specific multiplex ligation method. The interrelationship between the phenylalanine blood level on the fifth day of life and retest, the diseases clinical course, and the patients genotype was assessed according to the medical record data of 33 patients under dispensary observation in a medico-genetic clinic. The patients were divided into two groups. The first group (n=21) had two severe mutations (residual activity of phenylalanine hydroxylase 10%). The second group (n=12) had one severe and one mild mutation (the residual activity of the enzyme 10%). Results. The incidence of phenylketonuria in the Ryazan region was one in 5054 newborns, exceeding the Russian Federations average parameters. Eighteen mutations were discovered in the PAH gene. The most frequent was the R408W mutation (56.4% alleles). The second most frequent mutations were the IVS10-11GA (6.4%) and P281L (5.1%). The R158Q and Y418C mutations occurred with a frequency of 4.1% and Е280К mutation of 2.7%. All the rest of the mutations occurred as single cases. Investigation of the interrelationship between the phenylalanine blood level, the diseases clinical course, and the patients genotype revealed a reliably higher content of amino acid in the first group on retest (32.11.7 mg/% vs. 17.71.5 mg/% in the second group, р0.001) and predomination of more severe forms of phenylketonuria (90.5% vs. 41.7%, respectively, р0.001). Disorders in neuropsychic and speech development were present in 28.6% of patients in the first group but were absent in the second group. Conclusion. By conducting the study, the incidence of phenylketonuria was determined in the Ryazan region. The spectrum of mutations in the PAH gene was defined. The interrelationship between the diseases clinical portrait, the phenylalanine blood level, and the patients PAH genotype was revealed.

scholarly journals Adaptive drought tolerance during germination of Salsola drummondii seeds from saline and nonsaline habitats of the arid Arabian deserts

Botany ◽  
2019 ◽  
Vol 97 (2) ◽  
pp. 123-133 ◽  
Author(s):  
Attiat Elnaggar ◽  
Ali El-Keblawy ◽  
Kareem A. Mosa ◽  
Teresa Navarro
Keyword(s):  
Polyethylene Glycol ◽  
Seed Germination ◽  
Drought Tolerance ◽  
Light Regimes ◽  
Saline Habitats ◽  
Population Origin ◽  
Effects Of Temperature ◽  
Osmotic Potentials

The effects of temperature, light, salinity, and drought on germination of halophytes have been extensively studied. However, few studies have focused on the germination of plants that grow well in both saline and nonsaline habitats (i.e., habitat-indifferent halophytes). Here, we assess the impacts of population origin, temperature, and light on drought tolerance, as simulated with polyethylene glycol (PEG), during germination of Salsola drummondii Ulbr., a habitat-indifferent halophyte from the arid Arabian deserts. Seeds were collected from both saline and nonsaline habitats and germinated at six concentrations of PEG at three temperatures and two light regimes. An increase in the concentration of PEG resulted in a significant reduction in seed germination, especially at higher temperatures. Seeds from the nonsaline habitat attained significantly greater germination efficiency at concentrations of PEG up to –1.2 MPa, but there was no difference in germination of seeds between the two habitats at concentrations of –1.5 MPa. Seeds from the saline habitat germinated significantly faster at higher concentrations of PEG. Germination was significantly higher in darkness than in light at –1.5 MPa at the lower temperatures, but the opposite was true for the higher temperatures. Seeds from saline habitats had higher levels of dormancy and faster rates of germination at higher concentrations of PEG because of their adaptation to low osmotic potentials.

scholarly journals Biogenic amines in protocerebral A2 neurosecretory neurons of Lymantria dispar L. (Lepidoptera:Lymantriidae): Response to trophic stress

2011 ◽  
Vol 63 (3) ◽  
pp. 571-577 ◽  
Author(s):  
Vesna Peric-Mataruga ◽  
Marija Mrdakovic ◽  
Milena Vlahovic ◽  
Larisa Ilijin ◽  
Jankovic Tomanic ◽  
...  
Keyword(s):  
Host Plant ◽  
Biogenic Amines ◽  
Lymantria Dispar ◽  
Quercus Rubra ◽  
Robinia Pseudoacacia ◽  
Morphometric Parameters ◽  
Tree Leaves ◽  
Neurosecretory Neurons ◽  
Population Origin ◽  
Two Populations

The number, morphometric parameters and amount of aminergic neurosecretory product of protocerebral A2 neurosecretory neurons were investigated in the fifth instar of Lymantria dispar caterpillars, following a suitable or unsuitable trophic regime. Caterpillars originated from two populations (Quercus rubra or Robinia pseudoacacia forest) and were differently adapted to trophic stress, i.e. feeding on locust tree leaves - unsuitable host plant. The number of neurosecretory neurons was higher in the caterpillars originated from Robinia population than in Quercus population, regardless of feeding. A2 neurosecretory neurons, nuclei and their nucleoli were larger in caterpillars fed with unsuitable leaves in both populations. There was more aminergic product in the A2 neurosecretory neurons of the caterpillars fed with unsuitable leaves independently of population origin.

scholarly journals The Role of Population Origin and Microenvironment in Seedling Emergence and Early Survival in Mediterranean Maritime Pine (Pinus pinaster Aiton)

PLoS ONE ◽  
2014 ◽  
Vol 9 (10) ◽  
pp. e109132 ◽  
Author(s):  
Natalia Vizcaíno-Palomar ◽  
Bárbara Revuelta-Eugercios ◽  
Miguel A. Zavala ◽  
Ricardo Alía ◽  
Santiago C. González-Martínez
Keyword(s):  
Pinus Pinaster ◽  
Seedling Emergence ◽  
Maritime Pine ◽  
Population Origin ◽  
Early Survival

scholarly journals TIMP2 gene polymorphism as a potential tool to infer Brazilian population origin

2013 ◽  
Vol Volume 3 ◽  
pp. 11-15 ◽  
Author(s):  
Rodrigo da Silva ◽  
André Luis Shinohara ◽  
Denise Carleto Andia ◽  
Ariadne Letra ◽  
Regina Célia Peres ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Brazilian Population ◽  
Population Origin ◽  
Em Gene ◽  
Potential Tool

The need to understand the behaviour of fish reared for mariculture or restocking

2006 ◽  
Vol 63 (2) ◽  
pp. 345-354 ◽  
Author(s):  
Anne Gro Vea Salvanes ◽  
Victoria Braithwaite
Keyword(s):  
Atlantic Cod ◽  
Juvenile Fish ◽  
Natural Populations ◽  
Fish Farming ◽  
Marine Species ◽  
Fish Behaviour ◽  
Wild Populations ◽  
Farmed Fish ◽  
Alternative Approach ◽  
Population Origin

AbstractFollowing severe stock collapses in many natural populations, efforts are now being invested in farming marine species, and in rehabilitating populations through controlled releases. While the development of cod farming is still relatively new, it may be wise to consider some of the problems other fish farming industries have encountered. For example, farmed fish generally have a different genotype from that of local wild populations, and these artificially selected fish are typically bigger and more aggressive than wild fish. These differences can be problematic if farmed fish escape and begin breeding with local wild populations. An alternative approach to farming is to rehabilitate local wild populations through restocking. To date, however, this approach has had mixed success. Fish behaviour develops during early life stages through a combination of innate characteristics and experience. Apparently, the capacity for behavioural flexibility later in life is affected by the early experiences of juvenile fish. Here, we review the literature concerning the role of population origin and juvenile experience on fish behaviour. We highlight our recent studies on Atlantic cod, which demonstrate that variability in the nursery habitat generates behaviourally flexible fish. We discuss these issues in the context of gadoid mariculture and restocking. We conclude that behavioural studies are an important part of applied research for developing an industry of fish farming in gadoids, as well as for research concerning restocking and conservation of marine resources.

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