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6-Locus HLA allele and haplotype frequencies in a population of 1075 Russians from Karelia.

https://arctichealth.org/en/permalink/ahliterature301335
Source
Hum Immunol. 2019 Feb; 80(2):95-96
Publication Type
Journal Article
Date
Feb-2019
Author
Yvonne Hagenlocher
Beatrix Willburger
Geoffrey A Behrens
Alexander H Schmidt
Yuri Ioffe
Jürgen Sauter
Author Affiliation
DKMS German Bone Marrow Donor Center, Tübingen, Germany.
Source
Hum Immunol. 2019 Feb; 80(2):95-96
Date
Feb-2019
Language
English
Publication Type
Journal Article
Keywords
Alleles
Gene Frequency
Genetic Loci
Genetics, Population
Genotype
HLA Antigens - genetics
Haplotypes
Humans
Population Groups
Russia - ethnology
Abstract
A total of 1075 Russians from the Russian part of Karelia were genotyped at high-resolution for the human leukocyte antigen loci HLA-A, -B, -C, -DRB1, -DQB1, and -DPB1 using next generation sequencing methods. The haplotypic and allelic profiles as well as Hardy-Weinberg proportions of this population sample were evaluated. As the most frequent 6-locus haplotype, A*03:01?g?~?B*07:02?g?~?C*07:02?g?~?DRB1*15:01?g?~?DQB1*06:02?g?~?DPB1*04:01?g was identified with an estimated frequency of 3.5%. No deviation from Hardy-Weinberg Equilibrium was detected at any of the loci studied. The HLA genotypic data of the population sample reported here are available publicly in the Allele Frequencies Net Database under the population name "Russia Karelia" and the identifier AFN3430.
PubMed ID
30391501 View in PubMed
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[Acceptability of using Karachay surnames as a quasigenetic marker in population and genetic studies].

https://arctichealth.org/en/permalink/ahliterature261292
Source
Genetika. 2014 Jul;50(7):874-7
Publication Type
Article
Date
Jul-2014
Author
G I El'chinova
A V Ivanov
L A El'kanova
Yu A Revazova
R A Zinchenko
Source
Genetika. 2014 Jul;50(7):874-7
Date
Jul-2014
Language
Russian
Publication Type
Article
Keywords
Genetic markers
Genetics, Population - methods - standards
Humans
Names
Population - genetics
Registries
Russia
Abstract
Based on a comparison of the data on the frequencies of 1206 surnames registered in the Malokarachayevsky District of Karachay-Cherkessia with a number of other parameters and historical data, it was concluded that Karachay surnames are acceptable for use as a quasigenetic marker in a study of a population-genetic description of the area.
PubMed ID
25720146 View in PubMed
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Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent.

https://arctichealth.org/en/permalink/ahliterature268195
Source
Am J Hum Genet. 2015 Sep 3;97(3):404-18
Publication Type
Article
Date
Sep-3-2015
Author
Sharon R Browning
Brian L Browning
Source
Am J Hum Genet. 2015 Sep 3;97(3):404-18
Date
Sep-3-2015
Language
English
Publication Type
Article
Keywords
Chromosomes - genetics
Computer simulation
Finland
Genetics, Population - methods
Great Britain
Humans
Linkage Disequilibrium
Models, Genetic
Pedigree
Polymorphism, Single Nucleotide - genetics
Population Density
Software
Abstract
Existing methods for estimating historical effective population size from genetic data have been unable to accurately estimate effective population size during the most recent past. We present a non-parametric method for accurately estimating recent effective population size by using inferred long segments of identity by descent (IBD). We found that inferred segments of IBD contain information about effective population size from around 4 generations to around 50 generations ago for SNP array data and to over 200 generations ago for sequence data. In human populations that we examined, the estimates of effective size were approximately one-third of the census size. We estimate the effective population size of European-ancestry individuals in the UK four generations ago to be eight million and the effective population size of Finland four generations ago to be 0.7 million. Our method is implemented in the open-source IBDNe software package.
Notes
Cites: Genetics. 1971 Aug;68(4):581-975166069
Cites: Proc Biol Sci. 2013 Oct 7;280(1768):2013133923926150
Cites: Am J Hum Genet. 2013 Nov 7;93(5):840-5124207118
Cites: Mol Biol Evol. 2014 Mar;31(3):723-3524288159
Cites: Nat Genet. 2014 Aug;46(8):919-2524952747
Cites: Am J Hum Genet. 2011 Feb 11;88(2):173-8221310274
Cites: Nature. 2011 Jul 28;475(7357):493-621753753
Cites: Nat Genet. 2012 Mar;44(3):328-3322306652
Cites: Science. 2012 May 11;336(6082):740-322582263
Cites: PLoS One. 2012;7(7):e3755822911679
Cites: Am J Hum Genet. 2012 Nov 2;91(5):809-2223103233
Cites: J Med Genet. 1993 Oct;30(10):857-658230163
Cites: Nature. 2007 Oct 18;449(7164):851-6117943122
Cites: Genome Res. 2009 Jan;19(1):136-4219029539
Cites: Genome Res. 2009 Feb;19(2):318-2618971310
Cites: Heredity (Edinb). 2013 May;110(5):409-1923423148
Cites: Bioinformatics. 2010 Jun 15;26(12):1569-7120421198
Cites: Lancet Neurol. 2010 Oct;9(10):978-8520801718
Cites: Nat Rev Genet. 2009 Mar;10(3):195-20519204717
Cites: Annu Rev Genomics Hum Genet. 2001;2:103-2811701645
Cites: PLoS Genet. 2013 Jun;9(6):e100352123754952
Cites: Genetics. 2013 Jun;194(2):459-7123535385
Cites: PLoS Biol. 2013;11(5):e100155523667324
PubMed ID
26299365 View in PubMed
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Adaptive variation in senescence: reproductive lifespan in a wild salmon population.

https://arctichealth.org/en/permalink/ahliterature6679
Source
Proc Biol Sci. 2004 Feb 7;271(1536):259-66
Publication Type
Article
Date
Feb-7-2004
Author
Andrew P Hendry
Yolanda E Morbey
Ole K Berg
John K Wenburg
Author Affiliation
Redpath Museum and Department of Biology, McGill University, Montréal, Québec, Canada. andrew.hendry@mcgill.ca
Source
Proc Biol Sci. 2004 Feb 7;271(1536):259-66
Date
Feb-7-2004
Language
English
Publication Type
Article
Keywords
Adaptation, Physiological
Age Factors
Aging - physiology
Alaska
Animals
Body Composition
Comparative Study
Female
Game Theory
Genetics, Population
Microsatellite Repeats - genetics
Models, Biological
Nesting Behavior - physiology
Reproduction - physiology
Research Support, Non-U.S. Gov't
Salmon - physiology
Selection (Genetics)
Abstract
The antagonistic pleiotropy theory of senescence postulates genes or traits that have opposite effects on early-life and late-life performances. Because selection is generally weaker late in life, genes or traits that improve early-life performance but impair late-life performance should come to predominate. Variation in the strength of age-specific selection should then generate adaptive variation in senescence. We demonstrate this mechanism by comparing early and late breeders within a population of semelparous capital-breeding sockeye salmon (Oncorhynchus nerka). We show that early breeders (but not late breeders) are under strong selection for a long reproductive lifespan (RLS), which facilitates defence of their nests against disturbance by later females. Accordingly, early females invest less energy in egg production while reserving more for nest defence. Variation along this reproductive trade-off causes delayed or slower senescence in early females (average RLS of 26 days) than in late females (reproductive lifespan of 12 days). We use microsatellites to confirm that gene flow is sufficiently limited between early and late breeders to allow adaptive divergence in response to selection. Because reproductive trade-offs should be almost universal and selection acting on them should typically vary in time and space, the mechanism described herein may explain much of the natural variation in senescence.
PubMed ID
15058436 View in PubMed
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Additive and non-additive genetic architecture of two different-sized populations of Scabiosa canescens.

https://arctichealth.org/en/permalink/ahliterature46070
Source
Heredity. 2001 Jun;86(Pt 6):648-57
Publication Type
Article
Date
Jun-2001
Author
P. Waldmann
Author Affiliation
Department of Systematic Botany, University of Lund, Ostra Vallgatan 14-20, SE-22361, Lund, Sweden. Patrick.Waldmann@oulu.fi
Source
Heredity. 2001 Jun;86(Pt 6):648-57
Date
Jun-2001
Language
English
Publication Type
Article
Keywords
Analysis of Variance
Angiosperms - genetics
Crosses, Genetic
Gene Frequency
Genes, Dominant - genetics
Genetics, Population
Genotype
Likelihood Functions
North Carolina
Phenotype
Quantitative Trait, Heritable
Research Support, Non-U.S. Gov't
Selection (Genetics)
Abstract
Future adaptation to changes in the environment depends on the existence of additive genetic variances within populations. Recently, considerable attention has also been given to the non-additive component, which plays an important role in inbreeding depression and bottleneck situations. In this study, I used data from a North Carolina II crossing experiment, analysed with restricted maximum-likelihood methods, to estimate the additive and dominance genetic (co)variances for eight quantitative characters in two different-sized populations of Scabiosa canescens, a rare and threatened plant in Sweden. There was no evidence for genetic erosion in the small Hällestad population ( approximately 25 individuals) relative to the large Ahus population ( approximately 5000 individuals). In fact, slightly higher heritabilities were found in the Hällestad population. The additive genetic variance was statistically significant for all traits in both populations, but only a few additive covariances reached significance. The Hällestad population also had higher mean levels and more traits with significant dominance variance than the Ahus population. The variance attributable to maternal effects was too low to be considered significant. There was only a weak correspondence between heritabilities for each trait in the present study and previous estimates based on open-pollinated families of the same populations, but the mean heritability (over characters) was consistent between the studies.
PubMed ID
11595045 View in PubMed
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Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic.

https://arctichealth.org/en/permalink/ahliterature171206
Source
Can J Neurol Sci. 2005 Nov;32(4):450-8
Publication Type
Article
Date
Nov-2005
Author
Scott Kraft
Sarah Furtado
Ranjit Ranawaya
Jillian Parboosingh
Stacey Bleoo
Karen McElligott
Peter Bridge
Sian Spacey
Shyamal Das
Oksana Suchowersky
Author Affiliation
Movement Disorsders program, Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada.
Source
Can J Neurol Sci. 2005 Nov;32(4):450-8
Date
Nov-2005
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Ambulatory Care Facilities
Canada - epidemiology
DNA Mutational Analysis
Female
Genes, Recessive
Genetics, Population
Humans
Male
Movement Disorders - classification - diagnosis - epidemiology - genetics
Mutation
Retrospective Studies
Spinocerebellar Ataxias - classification - diagnosis - epidemiology - genetics
Abstract
The spinocerebellar ataxias (SCAs) are a genetically and clinically heterogeneous group of neurodegenerative disorders. Relative frequencies vary within different ethnic groups and geographical locations.
1) To determine the frequencies of hereditary and sporadic adult onset SCAs in the Movement Disorders population; 2) to assess if the fragile X mental retardation gene 1 (FMR1) premutation is found in this population.
A retrospective chart review of individuals with a diagnosis of adult onset SCA was carried out. Testing for SCA types 1, 2, 3, 6, 7, and 8, Dentatorubral-pallidoluysian atrophy (DRPLA), Friedreich ataxia and the FMR1 expansion was performed.
A total of 69 patients in 60 families were identified. Twenty-one (35%) of the families displayed autosomal dominant and two (3.3%) showed autosomal recessive (AR) pattern of inheritance. A positive but undefined family history was noted in nine (15%). The disorder appeared sporadic in 26 patients (43.3%). In the AD families, the most common mutation was SCA3 (23.8%) followed by SCA2 (14.3%) and SCA6 (14.3%). The SCA1 and SCA8 were each identified in 4.8%. FA was found in a pseudodominant pedigree, and one autosomal recessive pedigree. One sporadic patient had a positive test (SCA3).Dentatorubral-pallidoluysian atrophy and FMR1 testing was negative.
A positive family history was present in 53.3% of our adult onset SCA patients. A specific genetic diagnosis could be given in 61.9% of dominant pedigrees with SCA3 being the most common mutation, followed by SCA2 and SCA6. The yield in sporadic cases was low. The fragile X premutation was not found to be responsible for SCA.
PubMed ID
16408574 View in PubMed
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Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.

https://arctichealth.org/en/permalink/ahliterature210534
Source
Am J Hum Genet. 1996 Dec;59(6):1243-51
Publication Type
Article
Date
Dec-1996
Author
A L Moisio
P. Sistonen
J. Weissenbach
A. de la Chapelle
P. Peltomäki
Author Affiliation
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Source
Am J Hum Genet. 1996 Dec;59(6):1243-51
Date
Dec-1996
Language
English
Publication Type
Article
Keywords
Adult
Age Factors
Age of Onset
Chromosome Mapping - methods
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
DNA Repair - genetics
DNA, Satellite - genetics
Finland
Genetic markers
Genetics, Population
Haplotypes - genetics
Humans
Linkage Disequilibrium
Middle Aged
Pedigree
Abstract
Two mutations in the DNA mismatch repair gene MLH1, referred to as mutations 1 and 2, are frequent among Finnish kindreds with hereditary nonpolyposis colorectal cancer (HNPCC). In order to assess the ages and origins of these mutations, we constructed a map of 15 microsatellite markers around MLH1 and used this information in haplotype analyses of 19 kindreds with mutation 1 and 6 kindreds with mutation 2. All kindreds with mutation 1 showed a single allele for the intragenic marker D3S1611 that was not observed on any unaffected chromosome. They also shared portions of a haplotype of 4-15 markers encompassing 2.0-19.0 cM around MLH1. All kindreds with mutation 2 shared another allele for D3S1611 and a conserved haplotype of 5-14 markers spanning 2.0-15.0 cM around MLH1. The degree of haplotype conservation was used to estimate the ages of these two mutations. While some recessive disease genes have been estimated to have existed and spread for as long as thousands of generations worldwide and hundreds of generations in the Finnish population, our analyses suggest that the spread of mutation 1 started 16-43 generations (400-1,075 years) ago and that of mutation 2 some 5-21 generations (125-525 years) ago. These datings are compatible with our genealogical results identifying a common ancestor born in the 16th and 18th century, respectively. Overall, our results indicate that all Finnish kindreds studied to date showing either mutation 1 or mutation 2 are due to single ancestral founding mutations relatively recent in origin in the population. Alternatively, the mutations arose elsewhere earlier and were introduced in Finland more recently.
Notes
Cites: Hereditas. 1972;71(2):195-2364680662
Cites: Genome Res. 1995 Aug;5(1):42-528717054
Cites: Science. 1989 Sep 8;245(4922):1073-802570460
Cites: Hum Mol Genet. 1996 Jun;5(6):763-98776590
Cites: Annu Rev Genet. 1995;29:329-488825478
Cites: Science. 1990 Oct 12;250(4978):245-502218528
Cites: Dis Colon Rectum. 1991 May;34(5):424-52022152
Cites: Am J Hum Genet. 1991 Dec;49(6):1174-881746551
Cites: Am J Hum Genet. 1992 Mar;50(3):619-281347197
Cites: Science. 1993 May 7;260(5109):810-28484120
Cites: Genomics. 1993 Jun;16(3):720-58325646
Cites: Hum Mol Genet. 1993 Aug;2(8):1229-348104628
Cites: J Med Genet. 1993 Oct;30(10):857-658230163
Cites: Cell. 1993 Dec 17;75(6):1215-258261515
Cites: Nature. 1994 Mar 17;368(6468):258-618145827
Cites: Cancer Detect Prev. 1994;18(1):57-638162607
Cites: Nat Genet. 1992 Nov;2(3):204-111345170
Cites: Proc Natl Acad Sci U S A. 1994 Jun 21;91(13):6054-88016114
Cites: Nature. 1994 Sep 1;371(6492):75-808072530
Cites: Nat Genet. 1994 Jun;7(2):169-757920636
Cites: Lancet. 1995 Mar 18;345(8951):7277885145
Cites: Nat Genet. 1995 Feb;9(2):152-97719342
Cites: Nat Genet. 1995 Feb;9(2):99-1017719352
Cites: Dis Colon Rectum. 1995 Jun;38(6):588-937774468
Cites: Am J Hum Genet. 1995 Jul;57(1):95-1027611301
Cites: Nat Med. 1995 Nov;1(11):1203-67584997
Cites: Int J Cancer. 1995 Dec 20;64(6):430-38550246
Cites: Am J Hum Genet. 1996 Feb;58(2):271-808571953
Cites: Nature. 1996 Mar 14;380(6570):152-48600387
Cites: Am J Hum Genet. 1996 Mar;58(3):506-128644710
Cites: Proc Natl Acad Sci U S A. 1987 May;84(9):2882-53033668
PubMed ID
8940269 View in PubMed
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Age-associated accumulation of the apolipoprotein C-III gene T-455C polymorphism C allele in a Russian population.

https://arctichealth.org/en/permalink/ahliterature195836
Source
J Gerontol A Biol Sci Med Sci. 2001 Jan;56(1):B27-32
Publication Type
Article
Date
Jan-2001
Author
S V Anisimov
M V Volkova
L V Lenskaya
V K Khavinson
D V Solovieva
E I Schwartz
Author Affiliation
Department of Cardiology, I.P. Pavlov St. Petersburg State Medical University, Russia. anisimovs@grc.nia.nih.gov
Source
J Gerontol A Biol Sci Med Sci. 2001 Jan;56(1):B27-32
Date
Jan-2001
Language
English
Publication Type
Article
Keywords
Adolescent
Age Distribution
Aged
Aged, 80 and over
Alleles
Apolipoprotein C-III
Apolipoproteins C - genetics
Child
DNA
Genetics, Population
Humans
Longevity - genetics
Molecular Sequence Data
Polymorphism, Genetic - genetics
Risk factors
Russia
Triglycerides - blood - genetics
Abstract
Apolipoprotein C-III (apoC-III) is the major component of triglyceride-rich lipoproteins. One of six identified polymorphisms in the apoC-III 5'-untranslated region (T-455C) is located within a functional insulin-response element. In a group of 137 elderly individuals (70-106 years old), the allele distribution was analyzed using restriction fragment length polymorphisms. Statistical analysis of allele frequencies was performed on subgroups selected by age and in elderly patients with arterial hypertension or ischemic heart disease. A greater frequency of the apoC-III -455C allele was demonstrated with aging (p
PubMed ID
11193221 View in PubMed
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[A genetic and demographic study of Dagestan highland populations and migrants to the lowlands. The relationship between levels of consanguinity, homozygosity and physiologic sensitivity].

https://arctichealth.org/en/permalink/ahliterature213559
Source
Genetika. 1996 Jan;32(1):93-102
Publication Type
Article
Date
Jan-1996
Author
K B Bulaeva
T A Pavlova
S M Charukhilova
I E Bodia
G G Guseinov
S Kh Akhkuev
Source
Genetika. 1996 Jan;32(1):93-102
Date
Jan-1996
Language
Russian
Publication Type
Article
Keywords
Adaptation, Physiological
Altitude
Consanguinity
Dagestan
Demography
Environmental health
Female
Genetics, Population
Homozygote
Humans
Male
Transients and Migrants
Abstract
This is a continuation of a series of papers devoted to studying the genetic mechanisms of adaptation in migrants from isolated highland populations of Dagestan to new ecological conditions (lowlands). This paper describes the main results of studying the relationship between levels of inbreeding, homozygosity, and physiological sensitivity. Earlier, we found that decreased resistance to changing environmental factors in migrants to lowlands from the Dagestan highlands was connected with their high level of homozygosity. The data obtained allow us to assume that missing links in this chain of events include, in addition to parameters of inbreeding level, parameters of neurophysiological sensitivity, including absolute and differential sensitivity of various analyzers sensory systems, which are from 65 to 75% genetically determined. Migrants from highland auls (villages) to lowlands exhibited a decreased rate of sensomotor reactions in response to light and sound of various intensities, as well as decreased differential color sensitivity in the long-, medium-, and short-wave ranges of the spectrum, compared to highlanders. The results suggest the selective mortality of migrants from highlands to lowlands during adaptation to new conditions. Those migrants who dies were characterized by specific gene complexes that determined the characteristic features of expression of a number of interrelated polymorphic and quantitative traits. Thus, the high levels of homozygosity and inbreeding were accompanied by a greater neurophysiological sensitivity and lower indices of body weight and height.
PubMed ID
8647428 View in PubMed
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[A genetic-demographic study of the South Altaian population of the Mendur-Sokkon village (Altai Republic)]

https://arctichealth.org/en/permalink/ahliterature34025
Source
Genetika. 1997 Nov;33(11):1559-64
Publication Type
Article
Date
Nov-1997
Author
L P Osipova
Iu O Kashinskaia
O L Posukh
E A Ivakin
Iu A Kriukov
Author Affiliation
Institute of Cytology and Genetics, Siberian Division, Russian Academy of Sciences, Novosibirsk, Russia.
Source
Genetika. 1997 Nov;33(11):1559-64
Date
Nov-1997
Language
Russian
Publication Type
Article
Keywords
Adolescent
Adult
Child
Child, Preschool
Demography
English Abstract
Ethnic Groups - genetics
Female
Genetics, Population
Humans
Infant
Infant, Newborn
Male
Middle Aged
Reproduction - physiology
Rural Population
Russia
Transients and Migrants
Abstract
The main demographic parameters of the population of South Altaians from the Mendur-Sokkon village, Ust'-Kanskii raion, Altai Republic, were studied. This population was classified as a growing one because the population's reproductive size was large (37%), the prereproductive part constituted the majority of the population (52%), and the average number of surviving children per spouse was 2.6. The population studied began to mix with other ethnic groups (mostly Russians and Kazakhs) only recently; therefore, the proportion of interethnic hybrids was only 5%. The tribal structure of the Mendur-Sokkon population was typical of all South Altaians and characterized by stringent observance of exogamous regulations. An ethnically pure core was preserved in the population. The degree of endogamy was 0.36; however, the population mostly exchanged marriage migrants within the Ust'-Kanskii raion. A study of postreproductive females revealed that the average number of surviving children and pregnancies per female was 4.9 and 5.3, respectively; these values were lower than those in indigenous northern Siberian populations studied earlier. The high value of the Crow's index of total selection (Itot = 0.63) was mainly accounted for by the differential fecundity component, I(f) = 0.40, whereas the prereproductive mortality component (Im = 0.16) was considerably lower than in northern Siberian populations (Nganasans, Forest and Tundra Nentsi, Evens, Asian Eskimos, etc.) and closer to the values characteristic of urban human populations.
PubMed ID
9480220 View in PubMed
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954 records – page 1 of 96.