Skip header and navigation

Refine By

207 records – page 1 of 21.

Abnormal regulation of the LDL-R and HMG CoA reductase genes in subjects with familial hypercholesterolemia with the "French Canadian mutation".

https://arctichealth.org/en/permalink/ahliterature211598
Source
Atherosclerosis. 1996 Jul;124(1):103-17
Publication Type
Article
Date
Jul-1996
Author
L. Yu
S. Qiu
J. Genest
Author Affiliation
Cardiovascular Genetics Laboratory, Clinical Research Institute of Montréal, Québec Canada.
Source
Atherosclerosis. 1996 Jul;124(1):103-17
Date
Jul-1996
Language
English
Publication Type
Article
Keywords
Anticholesteremic Agents - pharmacology - therapeutic use
Canada - epidemiology
Cells, Cultured
Enzyme Induction
Enzyme Inhibitors - pharmacology - therapeutic use
Ethnic Groups - genetics
Female
Fibroblasts - metabolism
France - ethnology
Gene Expression Regulation - drug effects
Haploidy
Humans
Hydroxymethylglutaryl CoA Reductases - genetics
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Hyperlipoproteinemia Type II - drug therapy - ethnology - genetics
Lipoproteins, LDL - metabolism
Lovastatin - pharmacology - therapeutic use
Male
Prevalence
RNA, Messenger - biosynthesis - genetics
Receptors, LDL - genetics - metabolism
Sequence Deletion
Transcription, Genetic
Treatment Failure
Abstract
Familial hypercholesterolemia (FH) is seen with high frequency in the province of Québec, Canada. A large deletion (> 10 kb) of the 5'-end of the low density lipoprotein receptor (LDL-R) gene is the major mutation of the LDL-R in FH subjects in Québec (approximately 60% of FH subjects). No mRNA is produced from the allele bearing the mutation, and cellular cholesterol obtained by receptor-mediated endocytosis is under the control of the non-deletion allele. We have previously reported that some patients with the 10-kb deletion (approximately 9%) fail to respond to the hydroxymethylglutaryl coenzyme A reductase (HMG CoA reductase) inhibitor class of medications. We studied mRNA levels of the LDL-R and HMG CoA reductase genes in response to the HMG CoA reductase inhibitor lovastatin in a time- and dose-dependent fashion in cultured human skin fibroblasts and we devised an in vitro model to study the response to drug therapy in subjects with FH. We determined mRNA levels by RNase protection assay in skin fibroblasts obtained from controls (n = 3) and FH subjects with the > 10-kb deletion (responders, n = 3; non responders, n = 3; to drug therapy). We measured 125I-LDL binding on skin fibroblasts grown in the presence of lipoprotein-deficient serum with or without 1 microM lovastatin, using 10 micrograms/mL of 125I-LDL protein. Control subjects exhibited coordinate regulation of the LDL-R and HMG CoA reductase genes in response to lovastatin, 0.1-25 microM, for 0-24 h. Correlation coefficients between mRNA levels of both genes were > 0.9 in controls and FH subjects. However, by linear regression analysis, the corresponding slopes for the correlation between both genes were 0.98 (controls), 3.36 and 3.63 (FH responders and non-responders), indicating a pattern of dissociated but still coordinate regulation in FH subjects. The magnitude of increase of mRNA levels of the LDL-R gene was approximately five-fold over LPDS in controls, two-fold in FH responders and two-fold in non-responders. Binding studies using 125I-LDL reveal that a control subject and all responders had a 2-2.5-fold increase in binding to cell surface receptors but two out of three FH non-responders showed no increase in binding in response to 1 microM lovastatin. The LDL-R and HMG CoA reductase genes are expressed in coordinate regulation in fibroblasts from subjects with FH due to the > 10-kb deletion, but with a proportionately greater up-regulation of the HMG CoA reductase gene. Some subjects, with FH caused by the > 10-kb deletion of the LDL-R gene, who fail to respond to HMG CoA reductase inhibitors have abnormal LDL receptor binding activity at the cell surface in response to lovastatin in vitro.
PubMed ID
8800498 View in PubMed
Less detail

[Age-dependent CYP1A2 gene polymorphism -163C>A in three ethnic groups of Bashkortostan Republic residents].

https://arctichealth.org/en/permalink/ahliterature266130
Source
Adv Gerontol. 2014;27(3):412-7
Publication Type
Article
Date
2014
Author
V V Érdman
T R Nasibullin
I A Tuktarova
G F Korytina
L Z Akhmadishina
O V Kochetova
O E Mustafina
Source
Adv Gerontol. 2014;27(3):412-7
Date
2014
Language
Russian
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Aging - ethnology - genetics
Bashkiria - ethnology
Cytochrome P-450 CYP1A2 - genetics - metabolism
Ethnic Groups - genetics
European Continental Ancestry Group - genetics
Gene Frequency
Genotype
Humans
Middle Aged
Polymorphism, Genetic
Xenobiotics - metabolism
Young Adult
Abstract
On a sample of 1240 persons from Bashkortostan, including Russian, Bashkirs and Tatars, the analysis of allele and genotype frequencies distribution of CYP1A2 gene polymorphism -163C>A was performed by PCR-RFLP in view of belonging to a particular age cohort. In Russian and Bashkirs ethnic groups we observed age-dependent decrease of CYP1A2*C allele and CYP1A2*CI*C genotype frequencies (in Russian statistically significant for allele and genotype, the Bashkirs--only for allele) and a statistically significant increase of CYP1A2*A allele and CYP1A2*A/*A genotype frequencies. The set reduction in the frequency of the wild allele CYP1A2*C and increasing the frequency of the mutant allele CYP1A2*A with age may be due to greater survival of persons who are carriers of that allelic variants of CYP1A2 gene, providing a more efficient metabolism of xenobiotics.
PubMed ID
25826985 View in PubMed
Less detail

[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
Less detail

Allelic association between D2 but not D1 dopamine receptor gene and alcoholism in Finland.

https://arctichealth.org/en/permalink/ahliterature208767
Source
Psychiatr Genet. 1997;7(1):19-25
Publication Type
Article
Date
1997
Author
J. Hietala
T. Pohjalainen
U. Heikkilä-Kallio
C. West
M. Salaspuro
E. Syvälahti
Author Affiliation
Department of Psychiatry, Turku University Central Hospital, Finland. jahi@utu.fi
Source
Psychiatr Genet. 1997;7(1):19-25
Date
1997
Language
English
Publication Type
Article
Keywords
Alcoholism - ethnology - genetics
Alleles
Disease Susceptibility
Ethnic Groups - genetics
Finland - epidemiology
Gene Frequency
Humans
Male
Polymorphism, Restriction Fragment Length
Receptors, Dopamine D1 - genetics - physiology
Receptors, Dopamine D2 - genetics - physiology
Severity of Illness Index
Smoking - ethnology - genetics
Abstract
We studied the relationship of D2 and D1 receptor gene polymorphisms and alcoholism in male Finnish alcoholics and assessed male controls. Seventy alcoholics entering a detoxification programme and 50 control individuals were recruited. Forty-three per cent of the alcoholic patients, but only 22% of controls, had the D2 receptor gene TaqI A restriction fragment length polymorphism A1 allele. The frequency of the A1 allele was significantly higher in alcoholics (p = 0.039). In comparison, no association between alcoholism and the D1 receptor gene EcoRI restriction fragment length polymorphism alleles was found. A logistic regression analysis of the alcoholic population failed to support the idea that the presence of the A1 allele would be linked to estimates of alcohol dependence severity rated with the Severity of Alcohol Dependence Questionnaire or the Michigan Alcoholism Screening Test. In conclusion, allelic association between the D2 but not D1 receptor gene and alcoholism in a genetically relatively homogenous population of male Finns was found. The results are in agreement with the view that the D2 receptor locus is involved in genetic susceptibility to alcoholism but does not give support to a special association of severe alcohol dependence and the A1 allele of the D2 receptor gene.
PubMed ID
9264134 View in PubMed
Less detail

Allelic distribution of the CCR5, CCR2, and SDF1 gene polymorphisms associated with HIV-1/AIDS resistance in Russian populations.

https://arctichealth.org/en/permalink/ahliterature160875
Source
Dokl Biol Sci. 2007 Jul-Aug;415:320-3
Publication Type
Article

Altered cytokine profiles in patients with Chuvash polycythemia.

https://arctichealth.org/en/permalink/ahliterature153848
Source
Am J Hematol. 2009 Feb;84(2):74-8
Publication Type
Article
Date
Feb-2009
Author
Xiaomei Niu
Galina Y Miasnikova
Adelina I Sergueeva
Lydia A Polyakova
Daniel J Okhotin
Nikolai V Tuktanov
Mehdi Nouraie
Tatiana Ammosova
Sergei Nekhai
Victor R Gordeuk
Author Affiliation
Center for Sickle Cell Disease and Department of Medicine, Howard University, Washington, District of Columbia 20060, USA.
Source
Am J Hematol. 2009 Feb;84(2):74-8
Date
Feb-2009
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Basic Helix-Loop-Helix Transcription Factors - physiology
CD4-CD8 Ratio
Cell Hypoxia - genetics
Child
Cytokines - biosynthesis - blood - genetics
Erythropoietin - biosynthesis - blood - genetics
Ethnic Groups - genetics
Exons - genetics
Female
Genotype
Humans
Hypoxia-Inducible Factor 1, alpha Subunit - physiology
Interleukins - biosynthesis - blood - genetics
Male
Middle Aged
Point Mutation
Polycythemia - blood - ethnology - genetics
Russia - epidemiology
Tumor Necrosis Factor-alpha - analysis - biosynthesis - genetics
Vascular Endothelial Growth Factor A - biosynthesis - blood - genetics
Von Hippel-Lindau Tumor Suppressor Protein - genetics - physiology
Young Adult
Abstract
Chuvash polycythemia results from a homozygous 598C>T mutation in exon 3 of the von Hippel-Lindau (VHL) gene. This disrupts the normoxia pathway for degrading hypoxia inducible factor (HIF)-1alpha and HIF-2alpha causing altered expression of HIF-1 and HIF-2 inducible genes. As hypoxia induces expression of pro-inflammatory cytokines, we hypothesized that there might be an elevation of Th1 cytokines in the setting of Chuvash polycythemia. We analyzed plasma concentrations of Th1 (interleukins-2 and 12, interferon-gamma, granulocyte-monocyte colony-stimulating factor, tumor necrosis factor-alpha) and Th2 cytokines (interleukins-4, 5, 10, and 13) using the Bio-Plex multiplex suspension array system in 34 VHL598C>T homozygotes and 32 VHL wild-type participants from Chuvashia. Concentrations of all the Th1 and Th2 cytokines measured were elevated in the VHL598C>T homozygotes compared with the control wild-type participants, but the ratios of Th1 to Th2 cytokines did not differ by genotype. In parallel, peripheral blood concentrations of CD4 positive T-helper cells and CD4/CD8 ratio were lower in the VHL598C>T homozygotes. In conclusion, the up-regulated hypoxic response in Chuvash polycythemia is associated with increased plasma products of both the Th1 and Th2 pathways, but the balance between the two pathways seems to be preserved.
Notes
Cites: Med Sci Sports Exerc. 2005 May;37(5):768-7415870630
Cites: Genes Dev. 2000 Aug 15;14(16):1983-9110950862
Cites: BMC Pulm Med. 2005;5:815978129
Cites: Exp Physiol. 2005 Nov;90(6):791-716157658
Cites: Cancer Res. 2006 Mar 1;66(5):2600-716510578
Cites: Haematologica. 2006 Jun;91(6):744-916769575
Cites: Hepatobiliary Pancreat Dis Int. 2006 Aug;5(3):416-2116911942
Cites: J Immunol. 2006 Oct 15;177(8):4962-517015677
Cites: Int J STD AIDS. 2000 Jan;11(1):49-5110667901
Cites: J Clin Invest. 1996 Feb 1;97(3):649-558609219
Cites: J Exp Med. 2000 Dec 4;192(11):F31-411104811
Cites: Curr Opin Hematol. 2001 Jan;8(1):47-5111138626
Cites: Am J Respir Crit Care Med. 2001 Jan;163(1):115-2111208635
Cites: Blood Cells Mol Dis. 2002 Jan-Feb;28(1):57-6211987242
Cites: Eur J Immunol. 2002 Oct;32(10):2866-7312355439
Cites: J Biol Chem. 2002 Oct 18;277(42):39792-80012181324
Cites: Curr Pharm Des. 2003;9(7):511-912570799
Cites: Genes Dev. 2003 Nov 1;17(21):2614-2314597660
Cites: J Cell Physiol. 1997 Dec;173(3):335-429369946
Cites: Am J Respir Cell Mol Biol. 1999 Apr;20(4):561-7210100987
Cites: J Immunol. 1999 Jul 1;163(1):491-910384153
Cites: Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16768-7315556999
Cites: Blood. 2005 Jan 15;105(2):659-6915374877
Cites: J Cell Physiol. 2007 May;211(2):439-4717167775
Cites: J Appl Physiol (1985). 2007 Jul;103(1):305-1417463301
Cites: Brain Res. 2007 Sep 26;1171:111-2117761153
Cites: J Clin Invest. 2007 Dec;117(12):3879-8917992257
Cites: Blood. 2008 May 15;111(10):5205-1418270324
Cites: Blood. 2004 May 15;103(10):3924-3214726398
Cites: Mol Cell Biol. 2004 Oct;24(20):9038-4715456877
Cites: Clin Microbiol Rev. 2004 Oct;17(4):1012-30, table of contents15489359
Cites: J Immunol. 1986 Apr 1;136(7):2348-572419430
Cites: J Pathol. 2005 Jul;206(3):291-30415906272
PubMed ID
19062180 View in PubMed
Less detail

Alu insertion polymorphisms in Native Americans and related Asian populations.

https://arctichealth.org/en/permalink/ahliterature169340
Source
Ann Hum Biol. 2006 Mar-Apr;33(2):142-60
Publication Type
Article
Author
Jaqueline Battilana
Nelson J R Fagundes
Ana H Heller
Angela Goldani
Loreta B Freitas
Eduardo Tarazona-Santos
Batmunkh Munkhbat
Namid Munkhtuvshin
Mlu Krylov
Lidia Benevolenskaia
Frank C Arnett
Mark A Batzer
Prescott L Deininger
Francisco M Salzano
Sandro L Bonatto
Author Affiliation
Centro de Biologia Genômica e Molecular, Pontifícia Universidade Católica do Rio Grande do Sul, Faculdade de Biociências, Porto Alegre, RS, Brazil.
Source
Ann Hum Biol. 2006 Mar-Apr;33(2):142-60
Language
English
Publication Type
Article
Keywords
Alu Elements - genetics
Asian Continental Ancestry Group - genetics
Emigration and Immigration - history
Ethnic Groups - genetics
Female
Gene Frequency
Genetic markers
Genetics, Population
Heterozygote
History, Ancient
Humans
Indians, North American - genetics
Indians, South American - genetics
Male
Mutagenesis, Insertional
Polymorphism, Genetic
Principal Component Analysis
Siberia - ethnology
Abstract
Alu insertions provide useful markers for the study of inter-population affinities and historical processes, but data on these systems are not numerous in Native Americans and related populations.
The study aimed to answer the following questions: (a) do the population relationships found agree with ethnic, historical and geographical data? and (b) what can heterozygote levels and associated results inform us about the events that led to the colonization of the New World?
Twelve Alu insertion polymorphisms were studied in 330 individuals belonging to South American Native, Siberian and Mongolian populations. These data were integrated with those from 526 persons, to ascertain the relationships between Asian, Northern Arctic and Amerindian populations.
A decreasing trend concerning heterozygosities and amount of gene flow was observed in the three sets, in the order indicated above. Most results indicated the validity of these subdivisions. However, no clear structure could be observed within South American Natives, indicating the importance of dispersive (genetic drift, founder effects) factors in their differentiation.
The answers to the questions are: (a) yes; and (b) an initial moderate bottleneck, intensified by more recent historical events (isolation and inbreeding), can explain the current Amerindian pattern of diversity.
PubMed ID
16684689 View in PubMed
Less detail

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

https://arctichealth.org/en/permalink/ahliterature311013
Source
Genes (Basel). 2020 05 15; 11(5):
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Date
05-15-2020
Author
Nika V Petrova
Nataliya Y Kashirskaya
Tatyana A Vasilyeva
Elena I Kondratyeva
Elena K Zhekaite
Anna Y Voronkova
Victoria D Sherman
Varvara A Galkina
Eugeny K Ginter
Sergey I Kutsev
Andrey V Marakhonov
Rena A Zinchenko
Author Affiliation
Research Centre for Medical Genetics, Moskvorechje Street, 1, 115478 Moscow, Russia.
Source
Genes (Basel). 2020 05 15; 11(5):
Date
05-15-2020
Language
English
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Adolescent
Alleles
Child
Child, Preschool
Cystic Fibrosis - epidemiology - genetics - pathology
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
DNA Copy Number Variations - genetics
Ethnic Groups - genetics
Female
Gene Frequency
Genetics, Population
Humans
Infant
Male
Mutation - genetics
Russia - epidemiology
Young Adult
Abstract
The distribution and frequency of the CFTR gene mutations vary considerably between countries and ethnic groups. Russians are an East Slavic ethnic groups are native to Eastern Europe. Russians, the most numerous people of the Russian Federation (RF), make about 80% of the population. The aim is to reveal the molecular causes of CF in ethnic Russian patients as comprehensively as possible. The analysis of most common CFTR mutations utilized for CF diagnosis in multiethnic RF population accounts for about 83% of all CF-causing mutations in 1384 ethnic Russian patients. Variants c.1521_1523delCTT (F508del), c.54-5940_273+10250del21kb (CFTRdele2,3), c.2012delT (2143delT), c.2052_2053insA (2184insA), and c.3691delT (3821delT) are most typical for CF patients of Russian origin. DNA of 154 CF patients, Russian by origin, in whom at least one mutant allele was not previously identified (164 CF alleles), was analyzed by Sanger sequencing followed by the multiplex ligase-dependent probe amplification (MLPA) method. In addition to the 29 variants identified during the previous test for common mutations, 91 pathogenic CFTR variants were also revealed: 29 missense, 19 nonsense, 14 frame shift in/del, 17 splicing, 1 in frame ins, and 11 copy number variations (CNV). Each of the 61 variants was revealed once, and 17 twice. Each of the variants c.1209G>C (E403D), c.2128A>T (K710X), c.3883delA (4015delA), and c.3884_3885insT (4016insT) were detected for three, c.1766+1G>A (1898+1G>A) and c.2834C>T (S945L) for four, c.1766+1G>C (1898+1G>C) and c.(743+1_744-1)_(1584+1_1585-1)dup (CFTRdup6b-10) for five, c.2353C>T (R785X) and c.4004T>C (L1335P) for six, c.3929G>A (W1310X) for seven, c.580-1G>T (712-1G>T for eight, and c.1240_1244delCAAAA (1365del5) for 11 unrelated patients. A comprehensive analysis of CFTR mutant alleles with sequencing followed by MLPA, allowed not only the identification of 163 of 164 unknown alleles in our patient sample, but also expansion of the mutation spectrum with novel and additional frequent variants for ethnic Russians.
PubMed ID
32429104 View in PubMed
Less detail

[Analysis of Eight Polymorphic Alu Elements in the Teleuts Population].

https://arctichealth.org/en/permalink/ahliterature268136
Source
Genetika. 2015 Aug;51(8):963-6
Publication Type
Article
Date
Aug-2015
Author
M G Swarovskaya
A V Marusin
T I Tacheeva
I Yu Khitrinskaya
N I Gafarov
V A Stepanov
Source
Genetika. 2015 Aug;51(8):963-6
Date
Aug-2015
Language
Russian
Publication Type
Article
Keywords
Alu Elements - genetics
Ethnic Groups - genetics
Gene Frequency
Genetic Variation
Humans
Polymorphism, Genetic
Siberia
Abstract
Allele frequencies and genetic diversity in the population of Teleuts were assessed by the Alu repeat polymorphism at eight autosomal loci (ACE, APOA1, PLAT, F13, PV92, A25, CD4, Dl). For comparison, the study included previously obtained data on the Alu polymorphism in 19 indigenous populations of Siberia. On the dendrogram of genetic distances, the Teleut population is located in the cluster of Siberian ethnic groups, which are similar in origin, geography, and cultural traditions.
PubMed ID
26601497 View in PubMed
Less detail

[Analysis of polymorphism of CTG repetitive sequences in the gene of myotonic dystrophy in human populations of the Volga-Ural region].

https://arctichealth.org/en/permalink/ahliterature200601
Source
Genetika. 1999 Jul;35(7):988-93
Publication Type
Article
Date
Jul-1999
Author
R I Fatkhlislamova
I M Khidiatova
E K Khusnutdinova
S N Popova
P A Slominskii
S A Limborskaia
Author Affiliation
Department of Biochemistry and Cytochemistry, Ufa Research Center, Russian Academy of Sciences, Russia.
Source
Genetika. 1999 Jul;35(7):988-93
Date
Jul-1999
Language
Russian
Publication Type
Article
Keywords
Ethnic Groups - genetics
Female
Genetic markers
Heterozygote
Humans
Male
Myotonic Dystrophy - genetics
Polymorphism, Genetic
Population Surveillance
Russia
Trinucleotide Repeats
Abstract
Distribution of CTG repetitive sequences in the myotonic dystrophy (MD) gene was analyzed in ten populations of the Volga-Ural region, including Tatars, Chuvashes, Maris, Udmurts, Mordovians, Komis, and four ethnogeographical groups of Bashkirs. A total of 25 alleles were found (9 to 14 in individual populations), with each allele containing 5 to 34 trinucleotide repeats. The allele frequency distribution had two peaks corresponding to alleles with 5 and 11-14 CTG repeats. The frequency of the (CTG)5 allele varied from 0.23 to 0.47 in Maris and Mordovians, respectively. Regarding the (CTG)11-14 alleles, those containing 13 and 12 trinucleotides were most frequent in all populations; their frequencies varied from 0.15 in Mordovians to 0.24 in Maris and Bashkirs from the Abzelilovskii raion (district). Alleles with large numbers of repeats (more than 30) were only found in Tatars and Bashkirs from the Abzelilovskii raion, where their frequency was 0.01. The data obtained were compared with those on other human populations from various regions of the world. In general, the populations of the Volga-Ural region took an intermediate position between European and Asian populations (although were somewhat more similar to the latter ones) with respect to the distribution of allelic frequencies of the CTG repetitive sequences. In individual populations, the number of genotypes varied from 13 to 27 in Mordovians and Bashkirs from the Ilishevskii raion, respectively. The observed heterozygosity was the highest (91%) in Udmurts and the lowest (58%) in Mordovians; the average heterozygosity was 81%. Such a high heterozygosity, as well as the revealed differentiation of the populations with respect to the distribution of the allelic frequencies of CTG repetitive sequences in the MD gene, allow this polymorphic DNA locus to be considered a highly informative genetic marker of populations.
PubMed ID
10519076 View in PubMed
Less detail

207 records – page 1 of 21.