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148 records – page 1 of 15.

The 1 alpha-hydroxylase locus is not linked to calcium stone formation or calciuric phenotypes in French-Canadian families.

https://arctichealth.org/en/permalink/ahliterature206213
Source
J Am Soc Nephrol. 1998 Mar;9(3):425-32
Publication Type
Article
Date
Mar-1998
Author
P. Scott
D. Ouimet
Y. Proulx
M L Trouvé
G. Guay
B. Gagnon
L. Valiquette
A. Bonnardeaux
Author Affiliation
Service de Néphrologie, Hôpital Maisonneuve-Rosemont, Montreal, Quebec, Canada.
Source
J Am Soc Nephrol. 1998 Mar;9(3):425-32
Date
Mar-1998
Language
English
Publication Type
Article
Keywords
25-Hydroxyvitamin D3 1-alpha-Hydroxylase - genetics - metabolism
Adult
Calcium - urine
Canada
European Continental Ancestry Group - genetics
Family Health
Female
France - ethnology
Genetic Linkage
Genetic Markers - genetics
Humans
Kidney Calculi - enzymology - genetics
Male
Middle Aged
Nuclear Family
Pedigree
Phenotype
Vitamin D - blood
Abstract
Calcium urolithiasis is often associated with increased intestinal absorption and urine excretion of calcium, and has been suggested to result from increased vitamin D production. The role of the enzyme 1 alpha-hydroxylase, the rate-limiting step in active vitamin D production, was evaluated in 36 families, including 28 sibships with at least a pair of affected sibs, using qualitative and quantitative trait linkage analyses. Sibs with a verified calcium urolithiasis passage (n = 117) had higher 24-h calciuria (P = 0.03), oxaluria (P = 0.02), fasting and postcalcium loading urine calcium/creatinine (Ca/cr) ratios (P = 0.008 and P = 0.002, respectively), and serum 1,25(OH)2 vitamin D levels (P = 0.02) compared with nonstone-forming sibs (n = 120). Markers from a 9-centiMorgan interval encompassing the VDD1 locus on chromosome 12q13-14 (putative 1 alpha-hydroxylase) were analyzed in 28 sibships (146 sib pairs) of single and recurrent stone formers and in 14 sibships (65 sib pairs) with recurrent-only (> or = 3 episodes) stone-forming sibs. Two-point and multipoint analyses did not reveal excess in alleles shared among affected sibs at the VDD1 locus. Linkage of stone formation to the VDD1 locus could be excluded, respectively, with a lambda d of 2.0 (single and recurrent stone formers) and 3.25 (recurrent stone formers). Quantitative trait analyses revealed no evidence for linkage to 24-h calciuria and oxaluria, serum 1,25(OH)2 vitamin D levels, and Ca/cr ratios. This study shows absence of linkage of the putative 1 alpha-hydroxylase locus to calcium stone formation or to quantitative traits associated with idiopathic hypercalciuria. In addition, there is coaggregation of calciuric and oxaluric phenotypes with stone formation.
PubMed ID
9513904 View in PubMed
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Absence of the Asian-specific region V mitochondrial marker in Native Beringians.

https://arctichealth.org/en/permalink/ahliterature224068
Source
Am J Hum Genet. 1992 Apr;50(4):758-65
Publication Type
Article
Date
Apr-1992
Author
G F Shields
K. Hecker
M I Voevoda
J K Reed
Author Affiliation
Institute of Arctic Biology, University of Alaska, Fairbanks.
Source
Am J Hum Genet. 1992 Apr;50(4):758-65
Date
Apr-1992
Language
English
Publication Type
Article
Keywords
Alaska - ethnology
Asia, Central - ethnology
Base Sequence
Chromosome Deletion
DNA Probes - diagnostic use
DNA, Mitochondrial - analysis - genetics
Far East - ethnology
Genetic Markers - genetics
Humans
Molecular Sequence Data
Polymerase Chain Reaction
USSR - ethnology
Abstract
The Asian-specific 9-bp deletion between the genes for mitochondrial cytochrome oxidase II and lysine transfer RNA has been used to trace aboriginal human movements out of Southeast Asia and into portions of the South Pacific. Although it has been used to estimate the number of independent lineages that occur in the New World, it has not been studied in native peoples of the Beringian region. Thus, we have used PCR to amplify and compare the lengths of DNA segments surrounding this deletion in native peoples of Beringia and the adjacent regions, as well as natives of the Altai Mountains of Southwestern Siberia. Of the 176 individuals analyzed here, the deletion was found in only 3 of 25 individuals from the Ust-Kan region of the Altai Mountains. We comment on the distribution of this marker and on potential relationships between Beringians and other Native American groups in which this marker has been surveyed. One Chukchi possessed three copies of the 9-bp sequence, which suggests (1) that the number of copies of this sequence in humans may be more variable than had been believed and (2) that a mechanism of replication based on tandem duplication may be a potential explanation for the origin of this length mutation in humans.
Notes
Cites: Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7271968
Cites: Hum Hered. 1980;30(6):343-97216222
Cites: Am J Hum Genet. 1989 Apr;44(4):504-102929595
Cites: Nucleic Acids Res. 1988 Oct 25;16(20):9775-873186445
Cites: Am J Phys Anthropol. 1985 Jan;66(1):1-193976868
Cites: Nature. 1984 Nov 29-Dec 5;312(5993):442-46438531
Cites: Genetics. 1992 Jan;130(1):153-621346260
Cites: Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8720-41681540
Cites: Nucleic Acids Res. 1987 Jan 26;15(2):529-422881260
Cites: Am J Phys Anthropol. 1985 Oct;68(2):149-552998196
Cites: Hum Genet. 1986 Feb;72(2):105-173002958
Cites: Biochem Genet. 1987 Jun;25(5-6):385-903619883
Cites: Acta Anthropogenet. 1984;8(1-2):23-786085675
Cites: Genetics. 1983 Aug;104(4):699-7116311667
Cites: Am J Hum Genet. 1990 Mar;46(3):613-231968708
PubMed ID
1550120 View in PubMed
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Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family.

https://arctichealth.org/en/permalink/ahliterature193155
Source
Neurology. 2001 Sep 25;57(6):1043-9
Publication Type
Article
Date
Sep-25-2001
Author
M. Rantamäki
R. Krahe
A. Paetau
B. Cormand
I. Mononen
B. Udd
Author Affiliation
Department of Neurology and the Department of Physical Medicine and Rehabilitation, Seinäjoki Central Hospital, Seinäjoki, Finland. maria.rantamaki@pp.fimnet.fi
Source
Neurology. 2001 Sep 25;57(6):1043-9
Date
Sep-25-2001
Language
English
Publication Type
Article
Keywords
Adult
Brain Stem - pathology
Cerebellum - pathology
Chromosome Aberrations - genetics
Chromosome Disorders
DNA Mutational Analysis
Female
Finland
Genes, Recessive - genetics
Genetic Markers - genetics
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Nerve Fibers, Myelinated - pathology
Pedigree
Spinocerebellar Degenerations - diagnosis - genetics - pathology
Thalamic Diseases - diagnosis - genetics - pathology
Thalamus - pathology
Abstract
To describe an unusual kindred with adult-onset ataxia and thalamic lesions detected by brain MRI.
The authors characterized clinical, laboratory, and pathologic features of the disease and sought linkage to previously recognized ataxia loci.
Two sisters and a brother developed progressive ataxia, dysarthria, mild cognitive impairment, and sensorimotor neuropathy at age 30, combined with epilepsy in one sibling. MRI showed symmetric thalamic lesions, changes in brainstem gray matter, and white matter changes in the cerebellum. Autopsy in one of the patients revealed neuronal degeneration with a peculiar vacuolar change in thalamus, probably representing transsynaptic degeneration in response to deafferentation. Neuronal and secondary tract degeneration was observed in the spinal cord, cerebellum, and brainstem suggesting a spinocerebellar degeneration. The disorder appears to be transmitted as an autosomal recessive trait. Genetic and sequence analysis of the FRDA gene and comprehensive laboratory examinations excluded Friedreich's ataxia and other similar recessive diseases.
Adult-onset recessive ataxia with bilateral thalamic lesions in this family may represent a distinct hereditary spinocerebellar ataxia.
PubMed ID
11571332 View in PubMed
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American Indian prehistory as written in the mitochondrial DNA: a review.

https://arctichealth.org/en/permalink/ahliterature223740
Source
Hum Biol. 1992 Jun;64(3):403-16
Publication Type
Article
Date
Jun-1992
Author
D C Wallace
A. Torroni
Author Affiliation
Center for Genetics and Molecular Medicine, Emory University, Atlanta, GA 30322.
Source
Hum Biol. 1992 Jun;64(3):403-16
Date
Jun-1992
Language
English
Publication Type
Article
Keywords
Asia - ethnology
DNA, Mitochondrial - genetics
Emigration and Immigration - history
Genetic Markers - genetics
Genetic Variation
Haplotypes - genetics
History, Ancient
Humans
Indians, Central American - genetics - history
Indians, North American - genetics - history
Indians, South American - genetics - history
Polymorphism, Restriction Fragment Length
Abstract
Native Americans have been divided into three linguistic groups: the reasonably well-defined Eskaleut and Nadene of northern North America and the highly heterogeneous Amerind of North, Central, and South America. The heterogeneity of the Amerinds has been proposed to be the result of either multiple independent migrations or a single ancient migration with extensive in situ radiation. To investigate the origin and interrelationship of the American Indians, we examined the mitochondrial DNA (mtDNA) variation in 87 Amerinds (Pima, Maya, and Ticuna of North, Central, and South America, respectively), 80 Nadene (Dogrib and Tlingit of northwest North America and Navajo of the southwest North America), and 153 Asians from 7 diverse populations. American Indian mtDNAs were found to be directly descended from five founding Asian mtDNAs and to cluster into four lineages, each characterized by a different rare Asian mtDNA marker. Lineage A is defined by a HaeIII site gain at np 663, lineage B by a 9-bp deletion between the COII and tRNA(Lys) genes, lineage C by a HincII site loss at np 13259, and lineage D by an AluI site loss at np 5176. The North, Central, and South America Amerinds were found to harbor all four lineages, demonstrating that the Amerinds originated from a common ancestral genetic stock. The genetic variation of three of the four Amerind lineages (A, C, and D) was similar with a mean value of 0.084%, whereas the sequence variation in the fourth lineage (B) was much lower, raising the possibility of an independent arrival. By contrast, the Nadene mtDNAs were predominantly from lineage A, with 27% of them having a Nadene-specific RsaI site loss at np 16329. The accumulated Nadene variation was only 0.021%. These results demonstrate that the Amerind mtDNAs arose from one or maybe two Asian migrations that were distinct from the migration of the Nadene and that the Amerind populations are about four times older than the Nadene.
Notes
Comment In: Hum Biol. 1992 Jun;64(3):271-91607180
PubMed ID
1351474 View in PubMed
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Analysis of allele distribution for six short tandem repeat loci in the French Canadian population of Qu├ębec.

https://arctichealth.org/en/permalink/ahliterature207194
Source
J Forensic Sci. 1997 Nov;42(6):1147-53
Publication Type
Article
Date
Nov-1997
Author
L. Busque
D. Desmarais
S. Provost
J W Schumm
Y. Zhong
R. Chakraborty
Author Affiliation
Centre de Recherche Guy Bernier, Hôpital Maisonneuve-Rosemont, Montréal, Québec, Canada.
Source
J Forensic Sci. 1997 Nov;42(6):1147-53
Date
Nov-1997
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Child
DNA - analysis
Electrophoresis, Polyacrylamide Gel
European Continental Ancestry Group - genetics
Female
France - ethnology
Gene Frequency - genetics
Genetic Markers - genetics
Humans
Male
Paternity
Polymerase Chain Reaction
Polymorphism, Genetic
Quebec - epidemiology
Repetitive Sequences, Nucleic Acid - genetics
Sequence Analysis, DNA
Abstract
Short tandem repeat (STR) loci represent a rich source of highly polymorphic markers in the human genome which are useful for the purposes of forensic identification and determination of biological relatedness of individuals. Here, as a part of an ongoing extensive study, we report the analysis of a multilocus genotype survey of 642 to 870 chromosomes in the French Canadian Caucasian population of Québec at six STR loci. The loci HUMCSF1PO, HUMTPOX, HUMTH01, HUMF13A01, HUMFESFPS, and HUMvWA were typed using two multiplex polymerase chain reactions (PCR). Amplified DNA samples were subsequently analyzed by polyacrylamide gel electrophoresis followed by silver staining. The heterozygote frequencies of the loci range from 0.614 to 0.820 (0.661 to 0.818 expected) and the number of alleles from 7 to 12 per locus. Although statistically significant deviation from Hardy-Weinberg expectations of genotype frequencies was noted at some loci by one or more tests, in general, the genotype frequencies are well estimated from the product of allele frequencies at all loci. The most frequent six-locus genotype is expected to occur in the French Canadian population with a frequency of 3.50 by 10(-5) and together, these six loci have an average probability of discrimination of 0.9999985. The study presented here indicates that these six STR loci are informative genetic markers for identity testing purposes in the French Canadian Caucasian population of Québec.
PubMed ID
9397560 View in PubMed
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Analysis of East Asia genetic substructure using genome-wide SNP arrays.

https://arctichealth.org/en/permalink/ahliterature153881
Source
PLoS One. 2008;3(12):e3862
Publication Type
Article
Date
2008
Author
Chao Tian
Roman Kosoy
Annette Lee
Michael Ransom
John W Belmont
Peter K Gregersen
Michael F Seldin
Author Affiliation
Department of Biochemistry, Rowe Program in Human Genetics, University of California Davis, Davis, California, United States of America.
Source
PLoS One. 2008;3(12):e3862
Date
2008
Language
English
Publication Type
Article
Keywords
Asian Continental Ancestry Group - genetics
Far East - ethnology
Genetic Markers - genetics
Genetic Predisposition to Disease
Genetics, Population
Genome, Human
Genome-Wide Association Study
Genotype
Humans
Oligonucleotide Array Sequence Analysis
Polymorphism, Single Nucleotide
Principal Component Analysis
Abstract
Accounting for population genetic substructure is important in reducing type 1 errors in genetic studies of complex disease. As efforts to understand complex genetic disease are expanded to different continental populations the understanding of genetic substructure within these continents will be useful in design and execution of association tests. In this study, population differentiation (Fst) and Principal Components Analyses (PCA) are examined using >200 K genotypes from multiple populations of East Asian ancestry. The population groups included those from the Human Genome Diversity Panel [Cambodian, Yi, Daur, Mongolian, Lahu, Dai, Hezhen, Miaozu, Naxi, Oroqen, She, Tu, Tujia, Naxi, Xibo, and Yakut], HapMap [ Han Chinese (CHB) and Japanese (JPT)], and East Asian or East Asian American subjects of Vietnamese, Korean, Filipino and Chinese ancestry. Paired Fst (Wei and Cockerham) showed close relationships between CHB and several large East Asian population groups (CHB/Korean, 0.0019; CHB/JPT, 00651; CHB/Vietnamese, 0.0065) with larger separation with Filipino (CHB/Filipino, 0.014). Low levels of differentiation were also observed between Dai and Vietnamese (0.0045) and between Vietnamese and Cambodian (0.0062). Similarly, small Fst's were observed among different presumed Han Chinese populations originating in different regions of mainland of China and Taiwan (Fst's
Notes
Cites: PLoS Genet. 2008 Jan;4(1):e518208330
Cites: PLoS Genet. 2008 Jan;4(1):e418208329
Cites: PLoS Genet. 2008 May;4(5):e100007818497854
Cites: Arthritis Rheum. 2008 Jul;58(7):1940-618576330
Cites: Hum Mol Genet. 2008 Oct 15;17(R2):R143-5018852203
Cites: Hum Mutat. 2009 Jan;30(1):69-7818683858
Cites: Am J Hum Genet. 1999 Dec;65(6):1718-2410577926
Cites: Genetics. 2000 Jun;155(2):945-5910835412
Cites: Proc Natl Acad Sci U S A. 2000 Dec 5;97(25):14003-611095712
Cites: Am J Hum Genet. 2001 Sep;69(3):615-2811481588
Cites: Am J Hum Genet. 2002 Mar;70(3):635-5111836649
Cites: Nat Genet. 2003 Aug;34(4):395-40212833157
Cites: Genetics. 2003 Aug;164(4):1567-8712930761
Cites: Nat Genet. 2003 Dec;35(4):341-814608356
Cites: Am J Hum Genet. 2003 Dec;73(6):1402-2214631557
Cites: Nature. 2003 Dec 18;426(6968):789-9614685227
Cites: J Urban Health. 2004 Jun;81(2):301-1015136663
Cites: Genetics. 1992 Jan;130(1):139-521346259
Cites: Mol Biol Evol. 1993 Sep;10(5):927-438412653
Cites: Proc Natl Acad Sci U S A. 1998 Sep 29;95(20):11763-89751739
Cites: Nat Rev Genet. 2005 Apr;6(4):333-4015803201
Cites: Am J Hum Genet. 2005 Sep;77(3):408-1916080116
Cites: Nature. 2005 Oct 27;437(7063):1299-32016255080
Cites: Nat Genet. 2006 Aug;38(8):904-916862161
Cites: PLoS Genet. 2006 Sep 15;2(9):e14317044734
Cites: Science. 2006 Dec 1;314(5804):1461-317068223
Cites: Am J Hum Genet. 2007 May;80(5):948-5617436249
Cites: Philos Trans R Soc Lond B Biol Sci. 2007 Jun 29;362(1482):987-9517317646
Cites: Genes Immun. 2007 Jun;8(4):302-717361200
Cites: Arthritis Res Ther. 2007;9(2):R3217389033
Cites: Am J Hum Genet. 2007 Sep;81(3):559-7517701901
Cites: Mol Med. 2007 Sep-Oct;13(9-10):455-6017932559
Cites: PLoS Genet. 2008 Jan;4(1):e23618208327
Cites: Science. 2008 Feb 22;319(5866):1100-418292342
PubMed ID
19057645 View in PubMed
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[Analysis of microsatellite DNA of rainbow trout (Parasalmo (Oncorhynchus) mykiss) of Kamchatka: selection of loci and optimization of the method].

https://arctichealth.org/en/permalink/ahliterature100463
Source
Genetika. 2010 Jul;46(7):1004-8
Publication Type
Article
Date
Jul-2010
Author
A V Semenova
G A Rubtsova
K I Afanas'ev
S D Pavlov
Source
Genetika. 2010 Jul;46(7):1004-8
Date
Jul-2010
Language
Russian
Publication Type
Article
Keywords
Animals
Genetic Loci - genetics
Genetic Markers - genetics
Microsatellite Repeats - genetics
Oncorhynchus mykiss - genetics
Polymerase Chain Reaction - methods - standards
Siberia
Abstract
The variation of a sample of rainbow trout (Parasalmo (Oncorhynchus) mykiss) from natural populations of several rivers of the Kamchatka Peninsula with respect to 43 microsatellite DNA loci has been studied. These loci were earlier used for analysis of Asian populations of closely related salmonids. Ten of them may be regarded as markers and seen promising for further studies on intraspecific relationships of rainbow trout of Kamchatka. Their use in studies on more numerous samples from different localities and populations of Parasalmo (O.) mykiss in the Asian part of the species range will ensure efficient population genetic analysis of the Kamchatka population group of this species.
PubMed ID
20795506 View in PubMed
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Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis.

https://arctichealth.org/en/permalink/ahliterature126744
Source
Neurobiol Aging. 2012 Aug;33(8):1845.e7-9
Publication Type
Article
Date
Aug-2012
Author
Véronique V Belzil
Catherine André-Guimont
Marie-Renée Atallah
Hussein Daoud
Nicolas Dupré
Jean-Pierre Bouchard
William Camu
Patrick A Dion
Guy A Rouleau
Author Affiliation
Centre of Excellence in Neurosciences of Université de Montréal, CHUM Research Center, Montreal, QC H2L 4M1, Canada.
Source
Neurobiol Aging. 2012 Aug;33(8):1845.e7-9
Date
Aug-2012
Language
English
Publication Type
Article
Keywords
Adaptor Proteins, Vesicular Transport - genetics
Adolescent
Adult
Amyotrophic Lateral Sclerosis - congenital - epidemiology - genetics
Child
Female
Genetic Markers - genetics
Genetic Predisposition to Disease - epidemiology - genetics
Humans
Male
Mutation - genetics
Polymorphism, Single Nucleotide - genetics
Prevalence
Quebec - epidemiology
Risk factors
Young Adult
Abstract
Substantial efforts have been deployed in the past decade to identify the genetic causes of amyotrophic lateral sclerosis (ALS), and we hypothesized here that mutations in SORT1 or aberrant SORT1 splicing reduce progranulin level and promote neurodegeneration.
We sequenced the coding exons of SORT1 in a cohort of 112 unrelated individuals with familial ALS. We also tested for aberrant SORT1 splicing by RT-PCR using RNA samples from cell lines expressing six different ALS-associated TARDBP mutations.
We identified one unique missense and two unique silent mutations in our cohort. None are predicted to have functional effects. No aberrant SORT1 splicing event was observed.
SORT1 mutations are not a common cause of familial ALS, and the influence of TARDBP mutations on SORT1 splicing still needs to be clarified.
PubMed ID
22361451 View in PubMed
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148 records – page 1 of 15.