The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA

The genetic relationships between two Finno-Ugric-speaking populations, the Finns and the Finnish Saami (Lapps), were studied by using PCR for six nuclear-DNA marker loci, mitochondrial restriction-site polymorphism, and sequence variation of a 360-bp segment of the mitochondrial control region. The allele frequencies of each of the nuclear-DNA marker loci and the frequencies of mtDNA restriction haplotypes were significantly different between the populations. The Saami showed exceptionally low variation in their mtDNA restriction sites. The 9-bp deletion common in East Asian populations was not observed, nor did the haplotype data fit into the haplogroup categorization of Torroni et al. The average number of nucleotide substitutions from the mtDNA haplotype data indicated that the Finnish Saami may be closer to the Finns than to the other reference populations, whereas nuclear DNA suggested that the Finns are more closely related to the European reference populations than to the Finnish Saami. The similarity of the Finns to the other Europeans was even more pronounced according to the sequence data. We were unable to distinguish between the Finns and either the Swiss or Sardinian reference populations, whereas the Finnish Saami clearly stood apart. The Finnish Saami are distinct from other Circumarctic populations, although two of the lineages found among the Saami showed closer relationship to the Circumarctic than to the European lineages. The sequence data indicated an exceptionally high divergence for the Saami mtDNA control lineages. The distribution of the pairwise nucleotide differences in the Saami suggested that this population has not experienced an expansion similar to what was indicated for the Finns and the reference populations.     

Synthesis and characterisation of fluorescent pyrene‐end‐capped polylactide fibres

Fluorescent markers are critical for tracking the position and movement of molecules both in vivo and in vitro. Conventionally, synthetic dyes are non‐covalently added to polymers for fluorescent tracking, but often diffuse away. Here we demonstrate, for the first time, a facile method for the synthesis of fluorescent poly(lactic acid) nano‐/microfibres for biomedical applications using solution spin blowing. Pyrene‐end‐capped poly(l ‐lactide) (PLLA) derivatives were synthesised using the ring‐opening polymerisation of l ‐lactide and they were characterised using spectroscopic and thermal analyses. Submicrometre‐sized fluorescent fibres were produced from these PLLA derivatives using solution blow spinning techniques generating polymer blends and core–shell fibres. Such system could be further exploited to incorporate electrically conductive carbon allotropes via the pyrene aromaticity, producing fluorescent and electrically active fibres for in vitro monitoring and electrical stimulation. © 2018 Society of Chemical Industry     

Polylactide‐perylene derivative for blue biodegradable organic light‐emitting diodes

In this work we demonstrate, for the first time, the use of polylactic acid (PLA) as a biodegradable host matrix for the construction of the active emissive layer of organic light‐emitting diode (OLED) devices for potential use in bioelectronics. In this preliminary study, we report a robust synthesis of two fluorescent PLA derivatives, pyrene‐PLA ( AH10 ) and perylene‐PLA ( AH11 ). These materials were prepared by the ring opening polymerisation of l ‐lactide with hydroxyalkyl‐pyrene and hydroxyalkyl‐perylene derivatives using 1,8‐diazabicyclo[5.4.0]undec‐7‐ene as catalyst. OLEDs were fabricated from these materials using a simple device architecture involving a solution‐processed single‐emitting layer in the configuration ITO/PEDOT:PSS/PVK:OXD‐7 (35%): AH10 or AH11 (20%)/TPBi/LiF/Al (ITO, indium tin oxide; PEDOT:PSS, poly(3,4‐ethylenedioxythiophene) doped with poly(styrenesulfonic acid); PVK, poly(vinylcarbazole); OXD‐7, (1,3‐phenylene)‐bis‐[5‐(4‐tert‐butylphenyl)‐1,3,4‐oxadiazole]; TPBi, 2,2′,2″‐(1,3,5‐benzenetriyl)tris(1‐phenyl‐1H‐benzimidazole)). The turn‐on voltage for the perylene OLED at 10 cd m^–2 was around 6 V with a maximum brightness of 1200 cd m^–2 at 13 V. The corresponding external quantum efficiency and device current efficiency were 1.5% and 2.8 cd A^–1 respectively. In summary, this study provides proof of principle that OLEDs can be constructed from PLA, a readily available and renewable bio‐source. © 2020 The Authors. Polymer International published by John Wiley & Sons Ltd on behalf of Society of Industrial Chemistry.     

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6

Salla disease (SD), or adult-type free sialic acid storage disease, is an autosomal recessive lysosomal storage disorder characterized by impaired transport of free sialic acid across the lysosomal membrane and severe psychomotor retardation. Random linkage analysis of a sample of 27 Finnish families allowed us to localize the SD locus to the long arm of chromosome 6. The highest lod score of 8.95 was obtained with a microsatellite marker of locus D6S286 at theta = .00. Evidence for linkage disequilibrium was observed between the SD locus and the alleles of three closely linked markers, suggesting that the length of the critical region for the SD locus is in the order of 190 kb.     

Characterization of Process Conditions in Industrial Stainless Steelmaking Electric Arc Furnace Using Optical Emission Spectrum Measurements

Emission spectroscopy is a potential method for gaining information on electric arc furnace (EAF) process conditions. Previous studies published in literature on industrial EAF emission spectra have focused on a smaller scales and DC arc furnaces. In this study emission spectrum measurements were conducted for 140t AC stainless steelmaking EAF at Outokumpu Stainless Oy, Tornio Works, Finland. Four basic types of emission spectra were obtained during the EAF process cycle. The first one is obscured by scrap steel, the second is dominated by thermal radiation of the slag, the third is dominated by alkali peaks and sodium D-lines and the fourth is characterized by multiple atomic emission peaks. The atomic emission peaks were identified by comparing them to the NIST database for atomic emission lines and previous laboratory measurements on EAF slag emission spectra. The comparison shows that the optic emission of an arc is dominated by slag components. Plasma conditions were analyzed by deriving plasma temperature from optical emissions of Ca I lines. The analysis suggests that accurate information on plasma conditions can be gained from outer plasma having a plasma temperature below 7000 K (6727 °C).     

Heavy metal sensors and sequestrating agents based on polyaromatic copolymers and hydrogels

A series of readily available, amphiphilic pyrene‐ and perylene‐containing fluorescent materials, derived from the co‐polymerisation of 2‐acrylamido‐2‐methyl‐1‐propanesulfonic acid with acrylate esters, can be used to detect heavy metal ions in the micromolar concentration range in aqueous solutions. The incorporation of these amphiphilic copolymers into semi‐interpenetrating hydrogels also resulted in the irreversible removal of divalent Co²⁺, Ni²⁺, Cu²⁺ and Pb²⁺ ions from aqueous solutions at neutral pH.     

Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland

An epidemiological study of hereditary neuropathy with liability to pressure palsies (HNPP) was carried out in south western Finland, with a population of 435,000. The diagnosis was established in 69 patients from 23 unrelated families through family and medical history, clinical neurological and neurophysiological examinations and with documentation of the deletion at gene locus 17p11.2 in at least one member of each family. This gave a prevalence of at least 16/100,000, which is remarkably high. However, due to the insidious nature of HNPP, most probably it is still an underestimation. This is the first population-based prevalence figure reported for HNPP. The prevalence is somewhat lower than that obtained for CMT in the same population, which agrees with the proposal that HNPP and CMT 1A are reciprocal products of the same unequal crossing-over. The clinical pictures of our patients were, in general, similar to those previously described in HNPP.     

mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy

The mitochondrial DNA (mtDNA) sequence variation of 24 Finnish Leber hereditary optic neuroretinopathy (LHON) probands was characterized by sequencing and restriction endonuclease analyses. All LHON-associated substitutions and Caucasoid haplogroup-specific mutations were screened in the families. Analysis of the mtDNAs revealed that the Finnish LHON families have two unique features: an absence of the ND6/14484 mutation and a high number of families (10/24) without the primary mutations ND1/3460 and ND4/11778. Furthermore, the LHON families showed considerable mtDNA heterogeneity: among 24 families 22 haplotypes were detected. Overall, the haplogrouping of LHON families was similar to other European populations. However, the frequency of ND4/11778-positive families in haplogroup J was high, which may indicate that background mutations in this haplogroup together with the ND4/11778 primary mutation promote the penetrance of LHON.