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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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The 14q restless legs syndrome locus in the French Canadian population.

https://arctichealth.org/en/permalink/ahliterature179886
Source
Ann Neurol. 2004 Jun;55(6):887-91
Publication Type
Article
Date
Jun-2004
Author
Anastasia Levchenko
Jacques-Yves Montplaisir
Marie-Pierre Dubé
Jean-Baptiste Riviere
Judith St-Onge
Gustavo Turecki
Lan Xiong
Pascale Thibodeau
Alex Desautels
Dominique J Verlaan
Guy A Rouleau
Author Affiliation
Centre for Research in Neuroscience, McGill University Health Centre Research Institute, Montreal General Hospital, Quebec, Canada.
Source
Ann Neurol. 2004 Jun;55(6):887-91
Date
Jun-2004
Language
English
Publication Type
Article
Keywords
Canada
Chromosome Mapping
Chromosomes, Human, Pair 14 - genetics
Family Health
Female
France - ethnology
Genes, Dominant
Genes, Recessive
Genetic Linkage
Genetic Predisposition to Disease
Genotype
Humans
Lod Score
Male
Pedigree
Restless Legs Syndrome - genetics
Abstract
A new restless legs syndrome locus on chromosome 14 recently has been reported in one family of Italian origin. Our study aimed to replicate this finding and determine the importance of this locus in the French Canadian population. Markers spanning the region were genotyped in 14 large families and linkage assessed using two-point and multipoint logarithm of odds scores. Possible linkage to this locus was found in one of our kindreds providing support for the existence of this locus and indicating that this locus may be responsible for a small fraction of French Canadian restless legs syndrome.
PubMed ID
15174026 View in PubMed
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Absence of linkage of phonological coding dyslexia to chromosome 6p23-p21.3 in a large family data set.

https://arctichealth.org/en/permalink/ahliterature204108
Source
Am J Hum Genet. 1998 Nov;63(5):1448-56
Publication Type
Article
Date
Nov-1998
Author
L L Field
B J Kaplan
Author Affiliation
Department of Medical Genetics, Faculty of Medicine, Alberta Children's Hospital, University of Calgary, Calgry, Alberta, Canada. field@ucalgary.ca
Source
Am J Hum Genet. 1998 Nov;63(5):1448-56
Date
Nov-1998
Language
English
Publication Type
Article
Keywords
African Continental Ancestry Group - genetics
Alberta
Alleles
Auditory Perception
Child
Chromosome Mapping
Chromosomes, Human, Pair 6
Dyslexia - genetics - physiopathology
Europe - ethnology
European Continental Ancestry Group - genetics
Gene Frequency
Genetic Linkage
Genetic markers
Genotype
Humans
Lod Score
Nuclear Family
Abstract
Previous studies have suggested that a locus predisposing to specific reading disability (dyslexia) resides on chromosome 6p23-p21.3. We investigated 79 families having at least two siblings affected with phonological coding dyslexia, the most common form of reading disability (617 people genotyped, 294 affected), and we tested for linkage with the genetic markers reported to be linked to dyslexia in those studies. No evidence for linkage was found by LOD score analysis or affected-sib-pair methods. However, using the affected-pedigree-member (APM) method, we detected significant evidence for linkage and/or association with some markers when we used published allele frequencies with weighting of rarer alleles. APM results were not significant when we used marker allele frequencies estimated from parents. Furthermore, results were not significant with the more robust SIMIBD method using either published or parental marker frequencies. Finally, family-based association analysis using the AFBAC program showed no evidence for association with any marker. We conclude that the APM method should be used only with extreme caution, because it appears to have generated false-positive results. In summary, using a large data set with high power to detect linkage, we were unable to find evidence for linkage or association between phonological coding dyslexia and chromosome 6p markers.
Notes
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Erratum In: Am J Hum Genet 1999 Jan;64(1):334
PubMed ID
9792873 View in PubMed
Less detail

Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous.

https://arctichealth.org/en/permalink/ahliterature173270
Source
J Clin Oncol. 2005 Aug 20;23(24):5651-9
Publication Type
Article
Date
Aug-20-2005
Author
Elise T Renkonen
Pekka Nieminen
Wael M Abdel-Rahman
Anu-Liisa Moisio
Irma Järvelä
Sirpa Arte
Heikki J Järvinen
Päivi Peltomäki
Author Affiliation
Department of Medical Genetics, Institute of Dentistry, Biomedicum Helsinki, PO Box 63 (Haartmaninkatu 8), FIN-00014 University of Helsinki, Helsinki, Finland.
Source
J Clin Oncol. 2005 Aug 20;23(24):5651-9
Date
Aug-20-2005
Language
English
Publication Type
Article
Keywords
Adenomatous Polyposis Coli - genetics
Adult
DNA Mutational Analysis
Exons
Family Health
Female
Finland
Genes, APC
Genetic Linkage
Germ-Line Mutation
Haplotypes
Humans
Loss of Heterozygosity
Male
Middle Aged
Registries
Abstract
One third of families with classical adenomatous polyposis (FAP), and a majority of those with attenuated FAP (AFAP), remain APC mutation-negative by conventional methods. Our purpose was to clarify the genetic basis of polyposis and genotype-phenotype correlations in such families.
We studied a cohort of 29 adenomatous polyposis families that had screened APC mutation-negative by the protein truncation test, heteroduplex analysis, and exon-specific sequencing. The APC gene was investigated for large genomic rearrangements by multiplex ligation-dependent probe amplification (MLPA), and for allelic mRNA expression by single nucleotide primer extension (SNuPE). The AXIN2 gene was screened for mutations by sequencing.
Four families (14%) showed a constitutional deletion of the entire APC gene (three families) or a single exon (one family). Seven families (24%) revealed reduced or extinct mRNA expression from one APC allele in blood, accompanied by loss of heterozygosity in the APC region in six (75%) of eight tumors. In 15 families (52%), possible APC involvement could be neither confirmed nor excluded. Finally, as detailed elsewhere, three families (10%) had germline mutations in genes other than APC, AXIN2 in one family, and MYH in two families.
"APC mutation-negative" FAP is genetically heterogeneous, and a combination of MLPA and SNuPE is able to link a considerable proportion (38%) to APC. Significant differences were observed in clinical manifestations between subgroups, emphasizing the importance of accurate genetic and clinical characterization for the proper management of such families.
PubMed ID
16110024 View in PubMed
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Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family.

https://arctichealth.org/en/permalink/ahliterature214634
Source
J Neurol Neurosurg Psychiatry. 1995 Aug;59(2):178-81
Publication Type
Article
Date
Aug-1995
Author
G. Holmgren
L. Ozelius
L. Forsgren
B G Almay
M. Holmberg
P. Kramer
S. Fahn
X O Breakefield
Author Affiliation
Department of Clinical Genetics/Applied Cell and Molecular Biology, University Hospital, Umeå, Sweden.
Source
J Neurol Neurosurg Psychiatry. 1995 Aug;59(2):178-81
Date
Aug-1995
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age of Onset
Aged
Aged, 80 and over
Chromosomes, Human, Pair 9
DNA - analysis
Dystonia Musculorum Deformans - genetics
Female
Genetic Linkage
Humans
Male
Middle Aged
Pedigree
Sweden
Abstract
A gene (DYT1) for early onset idiopathic torsion dystonia was mapped to chromosome 9q34 in non-Jewish and Jewish families. The DYT1 gene region has been excluded in other families with adult onset and cervical or cranial onset idiopathic torsion dystonia from the United States, Great Britain, and France. The role of DYT1 in a Swedish family with adult onset idiopathic torsion dystonia in four generations was examined. The disease seems to be inherited in an autosomal dominant mode with reduced penetrance in this family. There were 10 affected family members, with a mean age of onset of 27 (range 18 to 50) years. The disease showed variable expression, with focal, multifocal, and generalised forms of dystonia in different family members. Genetic analysis excluded the chromosomal region containing the DYT1 locus as being responsible for dystonia in this family.
Notes
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PubMed ID
7629534 View in PubMed
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Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family.

https://arctichealth.org/en/permalink/ahliterature210795
Source
Hum Genet. 1996 Nov;98(5):567-71
Publication Type
Article
Date
Nov-1996
Author
A. Meyer
A. Béchetoille
F. Valtot
S. Dupont de Dinechin
M F Adam
A. Belmouden
A P Brézin
L. Gomez
J F Bach
H J Garchon
Author Affiliation
INSERM U25, Hôpital Necker, Paris, France.
Source
Hum Genet. 1996 Nov;98(5):567-71
Date
Nov-1996
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age Factors
Canada
Child
Chromosome Mapping
Chromosomes, Human, Pair 1
Female
France - ethnology
Genetic Linkage
Glaucoma, Open-Angle - genetics
Haploidy
Humans
Lod Score
Male
Middle Aged
Pedigree
Phenotype
Software
Abstract
The GLC1A locus for autosomal dominant primary open-angle glaucoma (POAG) with juvenile onset (before 20 years) has been mapped to chromosome 1q21-q31. Recently, a French-Canadian family was described in which both juvenile-onset and middle-age or early-onset POAG were observed and linked to GLC1A. We now describe a second POAG family with variable age of onset (range 11-51, median 36 years of age). Linkage to GLC1A was established with a maximum lod score of 6.21 at the D1S452 locus. A recombination event in a severely glaucomatous patient restricted the distal boundary of the GLC1A interval proximal to the AFM154xc9 marker. This study strengthens the idea that early-onset POAG may also be determined by the GLC1A genetic region.
PubMed ID
8882876 View in PubMed
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Alleles at the dopamine D4 receptor locus do not contribute to the genetic susceptibility to schizophrenia in a large Swedish kindred.

https://arctichealth.org/en/permalink/ahliterature219623
Source
Am J Med Genet. 1993 Dec 15;48(4):218-22
Publication Type
Article
Date
Dec-15-1993
Author
C L Barr
J L Kennedy
J B Lichter
H H Van Tol
L. Wetterberg
K J Livak
K K Kidd
Author Affiliation
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Source
Am J Med Genet. 1993 Dec 15;48(4):218-22
Date
Dec-15-1993
Language
English
Publication Type
Article
Keywords
Alleles
Chromosome Mapping
Disease Susceptibility
Female
Genetic Linkage
Humans
Male
Pedigree
Receptors, Dopamine - genetics
Receptors, Dopamine D2
Receptors, Dopamine D4
Schizophrenia - genetics
Sweden
Abstract
The discovery of a functional polymorphism within the dopamine D4 receptor gene (DRD4) has not only strengthened the hypotheses implicating DRD4 in the etiology of neuropyschiatric disorders, but also provided a genetic marker for testing these hypotheses. The possibility of the dopamine D4 receptor as a candidate gene for schizophrenia was investigated in a large Swedish kindred segregating for schizophrenia. Linkage to schizophrenia was tested by linkage analyses of 6 polymorphic markers (at 4 loci) in chromosome 11p15.5 including the dopamine D4 receptor (DRD4) and the tyrosine hydroxylase (TH) loci. Schizophrenia was excluded from close linkage to the DRD4 locus using two of the polymorphisms located within the dopamine D4 receptor gene. The first DRD4 polymorphism consists of variation in the number of a 48 bp imperfect direct repeat in the third exon; the second consists of a variable number of repeated G nucleotides in the first intron. In addition, some of the individuals homozygous for four or seven copies of 48 bp repeat alleles were tested for previously reported sequence variation among repeats. No single haplotype of the DRD4 alleles or haplotype of other markers in chromosome 11p15.5 was found to be common to the schizophrenic individuals in this family. Therefore, we find no evidence for linkage of the D4 receptor, or this region of 11p15.5, with genetic susceptibility to schizophrenia in this kindred.
PubMed ID
8135305 View in PubMed
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Allelic association but only weak evidence for linkage to the apolipoprotein E locus in late-onset Swedish Alzheimer families.

https://arctichealth.org/en/permalink/ahliterature211853
Source
Am J Med Genet. 1996 May 31;67(3):306-11
Publication Type
Article
Date
May-31-1996
Author
L. Liu
C. Forsell
L. Lilius
K. Axelman
E H Corder
L. Lannfelt
Author Affiliation
Karolinska Institute, Department of Clinical Neuroscience, Huddinge, Sweden.
Source
Am J Med Genet. 1996 May 31;67(3):306-11
Date
May-31-1996
Language
English
Publication Type
Article
Keywords
Age of Onset
Aged
Alleles
Alzheimer Disease - genetics - metabolism
Apolipoprotein E2
Apolipoprotein E3
Apolipoprotein E4
Apolipoproteins E - genetics
Female
Genetic Linkage
Humans
Male
Middle Aged
Sweden
Abstract
An association between the epsilon 4 allele of the apolipoprotein E gene (APOE) and late-onset Alzheimer's disease (AD) was recently demonstrated. In order to confirm the association and to gauge the ability of standard genetic linkage methods to identify susceptibility genes, we investigated 15 Swedish late-onset Ad families. We found an association of familial AD to the APOE epsilon 4 allele (P = 0.01) but no indication of linkage to the APOE region using 2-point linkage analysis, and only weak evidence using the affected pedigree-member (APM) method. Our results confirm an APOE epsilon 4 association with late-onset familial AD and indicate that susceptibility genes can easily be missed when using standard lod score and APM genetic linkage analysis.
PubMed ID
8725748 View in PubMed
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Allelic variants in HTR3C show association with autism.

https://arctichealth.org/en/permalink/ahliterature154044
Source
Am J Med Genet B Neuropsychiatr Genet. 2009 Jul 5;150B(5):741-6
Publication Type
Article
Date
Jul-5-2009
Author
Karola Rehnström
Tero Ylisaukko-oja
Ilona Nummela
Pekka Ellonen
Elli Kempas
Raija Vanhala
Lennart von Wendt
Irma Järvelä
Leena Peltonen
Author Affiliation
Department of Molecular Medicine, National Public Health Institute and Institute for Molecular Medicine Finland, Helsinki, Finland. karola.rehnstrom@ktl.fi
Source
Am J Med Genet B Neuropsychiatr Genet. 2009 Jul 5;150B(5):741-6
Date
Jul-5-2009
Language
English
Publication Type
Article
Keywords
Alleles
Autistic Disorder - genetics
Family
Finland
Gene Frequency
Genetic Linkage
Genetic Predisposition to Disease
Genotype
Humans
Polymorphism, Single Nucleotide
Receptors, Serotonin, 5-HT3 - genetics
Abstract
Autism spectrum disorders (ASDs) are severe neurodevelopmental disorders with a strong genetic component. Only a few predisposing genes have been identified so far. We have previously performed a genome-wide linkage screen for ASDs in Finnish families where the most significant linkage peak was identified at 3q25-27. Here, 11 positional and functionally relevant candidate genes at 3q25-27 were tested for association with autistic disorder. Genotypes of 125 single nucleotide polymorphisms (SNPs) were determined in 97 families with at least one individual affected with autistic disorder. The most significant association was observed using two non-synonymous SNPs in HTR3C, rs6766410 and rs6807362, both resulting in P = 0.0012 in family-based association analysis. In addition, the haplotype C-C corresponding to amino acids N163-A405 was overtransmitted to affected individuals (P = 0.006). Sequencing revealed no other variants in the coding region or splice sites of HTR3C. Based on the association analysis results in a previously identified linkage region, we propose that HTR3C represents a novel candidate locus for ASDs and should be tested in other populations.
Notes
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PubMed ID
19035560 View in PubMed
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[A medico-genetic description of inhabitants of two regions of the Kransnodar Krai].

https://arctichealth.org/en/permalink/ahliterature202131
Source
Genetika. 1999 Jan;35(1):68-73
Publication Type
Article
Date
Jan-1999
Author
R A Mamedova
M Iu Kadoshnikova
V A Galkina
O B Klebnikova
L K Mikhailova
G E Rudenskaia
E K Ginter
Author Affiliation
Institute of Clinical Genetics, Russian Academy of Medical Sciences, Moscow, Russia.
Source
Genetika. 1999 Jan;35(1):68-73
Date
Jan-1999
Language
Russian
Publication Type
Article
Keywords
Genes, Dominant
Genes, Recessive
Genetic Diseases, Inborn - epidemiology - genetics
Genetic Linkage
Genetics, Population
Humans
Prevalence
Russia - epidemiology
X Chromosome
Abstract
The spectrum and prevalence rate of hereditary pathology in Kanevskii and Bryukhovetskii raions (districts) of Krasnodar krai (territory) were analyzed. The total size of the studied population was 145,937. The prevalence rate of monogenic hereditary pathology was estimated. This value was 1.08 +/- 0.08, 0.72 +/- 0.07, and 0.20 +/- 0.06 per 1000 people for autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL) recessive diseases, respectively. Forty-two AD (158 affected persons in 82 families), 32 AR (105 affected persons in 82 families), and 6 XL disease entities (13 affected persons in 8 families) were found. A slight genetic subdivision was found in the populations of Kanevskii and Bryukhovetskii raions. However, it was not found to affect the prevalence of hereditary pathology.
PubMed ID
10330614 View in PubMed
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374 records – page 1 of 38.