scholarly journals High relative frequency of SCA1 in Poland reflecting a potential founder effect

2016 ◽  
Vol 37 (8) ◽  
pp. 1319-1325 ◽  
Author(s):  
Wioletta Krysa ◽  
Anna Sulek ◽  
Maria Rakowicz ◽  
Walentyna Szirkowiec ◽  
Jacek Zaremba
2017 ◽  
Vol 3 (1) ◽  
pp. 67-94 ◽  
Author(s):  
Kevin Heffernan ◽  
Yo Sato

Abstract This study presents apparent-time changes in the morphology of the expression mitai-na ‘similar to’. Based on apparent-time data, we argue that the morphological boundary between mitai and the attributive morpheme -na in the phrase mitai-na has disappeared, and that this complex phrase is now processed as a monomorphemic form. We suggest that relative frequency is the key to understanding the results. We further supplement our argument with data on the standardization of the adverbial adjective form in the Kansai dialect. Young speakers overwhelmingly use the standard form of adverbials for all adjectives except two: yō ‘a lot, well’ and hayō ‘quickly, early’ (instead of Standard Japanese yoku and hayaku). The three linguistic forms that display unusual behavior (mitai-na and the adverbial forms of yō and hayō) all have a high relative frequency. We conclude that when a complex form occurs more frequently than its components (high relative frequency), then it behaves as a monomorphemic unit. The irregular adverbial forms are leftover from an obsolete system, in the same way that many English irregular past forms are leftover from the Germanic strong verb system. In contrast, the irregular form mitai-na emerged from and competes with the regular inflection paradigm for mitai, illustrating a previously undocumented path for the diachronic emergence of irregular morphology.


2021 ◽  
Vol 13 (8) ◽  
Author(s):  
László Bartosiewicz ◽  
Erika Gál

AbstractFourteenth–fifteenth century food refuse from the kitchen of the Esztergom archbishopric shows a significant diachronic increase in cyprinid bones, in particular those of carp. Meanwhile, contributions by large acipenserids and carnivorous species (catfish/wels, pike, percids) declined. Contemporaneous account books indirectly suggest that the archbishop’s kitchen must have increasingly relied on farmed carp fish. Sturgeons were a commodity sold by the archbishopric but rarely consumed. Expensive pikes were bought at low prices for the archbishop, possibly related to the small size of individuals found in the deposits. The poor representation of high-status fish is consonant with the scarcity of bones from large game in an assemblage dominated by domesticates. Wild game is represented by brown hare, partridge, and a variety of thrushes. These finds confirm that the foodways in the archbishop’s palace were more modest than expected on the basis of its social status. Increasing contributions by cyprinids and sterlet to the assemblage also coincide with the high relative frequency of their recipes in a sixteenth century cookbook.


Author(s):  
Inge A. Meijer ◽  
Nicolas Dupré ◽  
Bernard Brais ◽  
Patrick Cossette ◽  
Judith St-Onge ◽  
...  

Background:The most common cause of autosomal dominant Hereditary Spastic Paraplegia (HSP) is mutations in the SPG4 gene. We have previously identified novel SPG4 mutations in a collection of North American families including the c.G1801A mutation present in two families from Quebec. The aim of this study is to estimate the frequency of the c.G1801A mutation in the French Canadian (FC) population and to determine whether this mutation originates from a common ancestor.Methods:We collected and sequenced exon 15 in probands of 37 families. Genotypes of markers flanking the SPG4 gene were used to construct haplotypes in five families. Clinical information was reviewed by a neurologist with expertise in HSP.Results:We have identified three additional unrelated families with the c.G1801A mutation and haplotype analysis revealed that all five families share a common ancestor. The mutation is present in 7% of all our FC families and explains half of our spastin linked FC families. The phenotype associated with the c.G1801A genotype is pure HSP with bladder involvement.Conclusion:In this study we have determined that the relative frequency of the c.G1801A mutation in our FC collection is 7%, and approximately 50% in the spastin positive FC group. This mutation is the most common HSP mutation identified in this population to date and is suggestive of a founder effect in Quebec.


Terminology ◽  
2012 ◽  
Vol 18 (2) ◽  
pp. 226-242 ◽  
Author(s):  
Cornelia Zelinsky-Wibbelt

This paper evaluates the possibilities of recognizing term candidates through their formal and semantic characteristics. From a cognitive-linguistic stance, the semantic motivation of the word-formation patterns of collocations and compounds in domain-specific texts is assumed to promote their termhood. The semantic motivation to integrate into a multi-word unit is assumed to originate in the generally agreed on generic reference of the modifying constituent. This hypothesis is investigated empirically in a corpus-linguistic experiment. Term candidates instantiating different derivational patterns of adjective–noun constructions have been manually sorted by experts into approved and non-approved terms. Our subsequent linguistic categorization into the morpho-semantic constructions instantiated by the term candidates could be verified quantitatively in terms of relative frequencies. These frequencies clearly divide the term candidates into instances of term-promoting and term-impeding constructions. Obviously, the experts have approved the terms of those constructions which come up with a high relative frequency in the corpus.


Cancer ◽  
1983 ◽  
Vol 51 (9) ◽  
pp. 1754-1759 ◽  
Author(s):  
Maria C. Sambade ◽  
Vicente S. Goncalves ◽  
Manuel Dias ◽  
Manuel A. Sobrinho-Simòes

2017 ◽  
Vol 3 (2) ◽  
pp. 200-231 ◽  
Author(s):  
Kevin Heffernan ◽  
Yusuke Hiratuka

Abstract The sociolinguistic enterprise has demonstrated that speakers manipulate linguistic variants as they construct their speech style. Contrary to this expectation, this study introduces specific cases in which stylistic variation is highly constrained. We examine the verbal negative suffix in Kansai vernacular Japanese. We first demonstrate that this variable indexes speech style. We then show that in a few specific contexts, such as following the verb stem shir- ‘know’, speakers overwhelmingly use a single variant, in this case, shira-n ‘not know’. We point out that the unusual forms such as shira-n all have a high relative frequency compared to the other forms in their paradigms. Complex forms such as the English word insane, which occur more frequently than their parts (in+sane), are difficult to decompose. We claim that this phenomenon also impedes stylistic variation as forms such as shira-n are not readily decomposed into verb stem + negative suffix.


2016 ◽  
Vol 12 (2) ◽  
pp. 76
Author(s):  
Reny Sawitri ◽  
Sofian Iskandar

<p>Management of forest production by application of Reduced Impact Logging (RIL) created crown opening by 13.3%, which was smaller compared with Conventional Logging (CNV) that caused crown opening by19.2%, and provided significant influence to water biodiversity. Availability of nutrient and essential minerals was better in RIL that was supported by high soluble residual or 95% higher and low velocity of river flow or 50% of surrounding CNV water. This physical condition showed significant difference to N and P ratio (N/P ratio) in RIL and CNV or 77.5 and 51.3. These values showed high content of nitrate of the water and it was in oligotropic type condition. Diversity Index of plankton in RIL was 1.754 and in CNV was 1.682 with each population density was 12,916 and 7,222 individuals/liter. The number of plankton had possitive correlation with N/P ratio (r = 0.9). In water catchment study area, there were found 28 fish species belonged to 20 genera and 8 families. The dominance families were Cyprinidae 57.14%, Bagridae 17.14%, and Anguillidae 7.14%. Most endemic fish species of Borneo were also found in both RIL and CNV water, however species with high relative frequency and density were found higher in RIL water.</p><p> </p><p><strong>Abstrak</strong></p><p>Pengelolaan hutan produksi dengan model penebangan Reduced Impact Logging (RIL) membuat pembukaan tajuk seluas 13,3% yang relatif lebih kecil dibandingkan dengan penebangan konvensional (CNV) dengan pembukaan tajuk seluas 19,2%, memberikan pengaruh yang berbeda terhadap keanekaragaman hayati perairan. Ketersediaan nutrisi dan hara penting yang lebih baik di perairan kawasan RIL ditunjang oleh tingginya residu terlarut 95% dan rendahnya kecepatan aliran air sungai 50% dari perairan sekitar CNV. Kondisi fisik perairan yang demikian menunjukkan perbedaan nyata terhadap perbandingan nitrat dan fosfat (N/P rasio) di RIL dan CNV, yaitu 77,5 dan 51,3. Nilai ini menunjukkan kadar nitrat perairan yang tinggi, dan perairan berada dalam tipe oligotropic. Indeks keragaman jenis plankton di RIL 1,754 dan di CNV 1,682 dengan populasi masing-masing 12.916 individu/liter dan 7.222 individu/ liter. Jumlah plankton ini berkorelasi positif dengan N/P rasio (r = 0,9). Di perairan sekitar DAS areal penelitian terdapat 28 jenis ikan tergolong kedalam 20 genera dan 8 famili. Famili dominan adalah Cyprinidae 57,14%, Bagridae 17,14%, dan Anguillidae 7,14%. Sebagian besar ikan jenis endemik Kalimantan terdapat pula di kedua perairan RIL dan CNV, tetapi jenis yang mempunyai kerapatan dan frekuensi relatif tinggi ditemukan lebih banyak di perairan RIL.</p>


ASHA Leader ◽  
2013 ◽  
Vol 18 (3) ◽  
pp. 31-31

Relative Frequency Predicts Presence of Voice Disorders


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