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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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Amyloid precursor protein mutation causes Alzheimer's disease in a Swedish family.

https://arctichealth.org/en/permalink/ahliterature218798
Source
Neurosci Lett. 1994 Feb 28;168(1-2):254-6
Publication Type
Article
Date
Feb-28-1994
Author
L. Lannfelt
N. Bogdanovic
H. Appelgren
K. Axelman
L. Lilius
G. Hansson
D. Schenk
J. Hardy
B. Winblad
Source
Neurosci Lett. 1994 Feb 28;168(1-2):254-6
Date
Feb-28-1994
Language
English
Publication Type
Article
Keywords
Aged
Alzheimer Disease - genetics - pathology
Amyloid beta-Protein Precursor - genetics
Brain - pathology
Female
Genetic Linkage
Heterozygote Detection
Humans
Lod Score
Male
Middle Aged
Mutation
Neurofibrillary Tangles - pathology
Organ Specificity
Sweden
Abstract
Since the report of a double mutation at codons 670 and 671 of the amyloid precursor protein (APP) gene identified in two Swedish families with clinically diagnosed Alzheimer's disease (AD), a carrier with dementia has died. Neuropathology confirmed the clinical diagnosis of AD. Genealogical investigations have confirmed that the two families are related to common founders. Two-point linkage analysis of the mutation versus the disease in the revised pedigree now gives a lod score of 7.62.
PubMed ID
8028788 View in PubMed
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An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium.

https://arctichealth.org/en/permalink/ahliterature23409
Source
Am J Hum Genet. 1995 Jan;56(1):254-64
Publication Type
Article
Date
Jan-1995
Author
S A Narod
D. Ford
P. Devilee
R B Barkardottir
H T Lynch
S A Smith
B A Ponder
B L Weber
J E Garber
J M Birch
Author Affiliation
Department of Medicine, McGill University, Montreal, Quebec, Canada.
Source
Am J Hum Genet. 1995 Jan;56(1):254-64
Date
Jan-1995
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
BRCA1 Protein
Breast Neoplasms - epidemiology - genetics
Breast Neoplasms, Male - epidemiology - genetics
Chromosomes, Human, Pair 17
Female
Genetic Heterogeneity
Genetic Predisposition to Disease
Humans
Iceland - epidemiology
Lod Score
Male
Middle Aged
Neoplasm Proteins - genetics
Neoplasms, Multiple Primary - epidemiology - genetics
Neoplastic Syndromes, Hereditary - epidemiology - genetics
Netherlands - epidemiology
Ovarian Neoplasms - epidemiology - genetics
Pedigree
Transcription Factors - genetics
Abstract
The breast-ovary cancer-family syndrome is a dominant predisposition to cancer of the breast and ovaries which has been mapped to chromosome region 17q12-q21. The majority, but not all, of breast-ovary cancer families show linkage to this susceptibility locus, designated BRCA1. We report here the results of a linkage analysis of 145 families with both breast and ovarian cancer. These families contain either a total of three or more cases of early-onset (before age 60 years) breast cancer or ovarian cancer. All families contained at least one case of ovarian cancer. Overall, an estimated 76% of the 145 families are linked to the BRCA1 locus. None of the 13 families with cases of male breast cancer appear to be linked, but it is estimated that 92% (95% confidence interval 76%-100%) of families with no male breast cancer and with two or more ovarian cancers are linked to BRCA1. These data suggest that the breast-ovarian cancer-family syndrome is genetically heterogeneous. However, the large majority of families with early-onset breast cancer and with two or more cases of ovarian cancer are likely to be due to BRCA1 mutations.
PubMed ID
7825586 View in PubMed
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The apolipoprotein E/CI/CII gene cluster and late-onset Alzheimer disease.

https://arctichealth.org/en/permalink/ahliterature218459
Source
Am J Hum Genet. 1994 Apr;54(4):631-42
Publication Type
Article
Date
Apr-1994
Author
C E Yu
H. Payami
J M Olson
M. Boehnke
E M Wijsman
H T Orr
W A Kukull
K A Goddard
E. Nemens
J A White
Author Affiliation
Division of Neurology, University of Washington, Seattle 98195.
Source
Am J Hum Genet. 1994 Apr;54(4):631-42
Date
Apr-1994
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Aged
Aged, 80 and over
Alleles
Alzheimer Disease - genetics
Apolipoprotein C-I
Apolipoprotein C-II
Apolipoproteins C - genetics
Apolipoproteins E - genetics
Chromosomes, Human, Pair 19
Female
Gene Frequency
Genetic Linkage
Germany - ethnology
Humans
Likelihood Functions
Lod Score
Male
Middle Aged
Multigene Family
Pedigree
Polymorphism, Genetic
Russia
Abstract
The chromosome 19 apolipoprotein E/CI/CII gene cluster was examined for evidence of linkage to a familial Alzheimer disease (FAD) locus. The family groups studied were Volga German (VG), early-onset non-VG (ENVG; mean age at onset
Notes
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PubMed ID
8128960 View in PubMed
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Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1.

https://arctichealth.org/en/permalink/ahliterature154583
Source
Mov Disord. 2009 Jan 15;24(1):40-50
Publication Type
Article
Date
Jan-15-2009
Author
Anastasia Levchenko
Jacques-Yves Montplaisir
Géraldine Asselin
Sylvie Provost
Simon L Girard
Lan Xiong
Emmanuelle Lemyre
Judith St-Onge
Pascale Thibodeau
Alex Desautels
Gustavo Turecki
Claudia Gaspar
Marie-Pierre Dubé
Guy A Rouleau
Author Affiliation
Center of Excellence in Neuromics, CHUM Research Center-Notre Dame Hospital, Quebec, Canada.
Source
Mov Disord. 2009 Jan 15;24(1):40-50
Date
Jan-15-2009
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Chromosomes, Human, Pair 16 - genetics
Female
France - ethnology
Genes, Dominant
Genetic Heterogeneity
Genotype
Haplotypes
Humans
Lod Score
Male
Microsatellite Repeats
Middle Aged
Paresthesia - genetics
Pedigree
Pregnancy
Pregnancy Complications - genetics
Quebec - epidemiology
Restless Legs Syndrome - ethnology - genetics
Young Adult
Abstract
We describe an autosomal-dominant locus for Restless Legs Syndrome (RLS) in a French-Canadian (FC) pedigree. Genome-wide microsatellite scan and linkage analysis were used in this study. The locus maps to chromosome 16p12.1 and spans 1.18 Mega bases. The maximum multipoint LOD scores are of 3.5 over the total of 10 markers. Evidence for the same locus was also found in a smaller FC pedigree sime095. The analysis of the sequence of 8 annotated genes within the region did not reveal any pathogenic mutations. Copy number variation and karyotype analyses did not reveal any chromosomal abnormality in the region. Further analyses of the region are necessary to find the genetic cause of RLS in this family.
PubMed ID
18946881 View in PubMed
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A breast-ovarian cancer susceptibility gene maps to chromosome 17q21.

https://arctichealth.org/en/permalink/ahliterature221359
Source
Am J Hum Genet. 1993 Apr;52(4):736-42
Publication Type
Article
Date
Apr-1993
Author
J. Feunteun
S A Narod
H T Lynch
P. Watson
T. Conway
J. Lynch
J. Parboosingh
P. O'Connell
R. White
G M Lenoir
Author Affiliation
Laboratoire d'Oncologie Moléculaire, URA 1158 CNRS, Institut Gustave Roussy, Villejuif, France.
Source
Am J Hum Genet. 1993 Apr;52(4):736-42
Date
Apr-1993
Language
English
Publication Type
Article
Keywords
Adult
Aged
Breast Neoplasms - genetics
Canada
Chromosome Mapping - methods
Chromosomes, Human, Pair 17
Family Health
Female
Gene Expression
Genes, Dominant
Genetic Linkage
Genetic markers
Genetic Predisposition to Disease
Genotype
Humans
Lod Score
Male
Middle Aged
Neoplastic Syndromes, Hereditary
Ovarian Neoplasms - genetics
Pedigree
Polymorphism, Genetic
Proto-Oncogenes
Recombination, Genetic
United States
Abstract
Nineteen North American Caucasian families that contain a minimum of four confirmed cases of breast or ovarian cancer have been studied. Four polymorphisms (cLB17.1, D17S579, D17S588, and D17S74), which span a region of approximately 15 cM on chromosome 17q12, were typed. Our data confirm the location of a dominant gene conferring susceptibility to breast and ovarian cancer (maximum lod = 9.78) and suggest that the breast-ovarian cancer syndrome is genetically heterogeneous. Two recombinants in one large family suggest that the breast-ovarian cancer locus lies between D17S588 and D17S579.
Notes
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PubMed ID
8460639 View in PubMed
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Chromosome 20 shows linkage with DSM-IV nicotine dependence in Finnish adult smokers.

https://arctichealth.org/en/permalink/ahliterature130057
Source
Nicotine Tob Res. 2012 Feb;14(2):153-60
Publication Type
Article
Date
Feb-2012
Author
Kaisu Keskitalo-Vuokko
Jenni Hällfors
Ulla Broms
Michele L Pergadia
Scott F Saccone
Anu Loukola
Pamela A F Madden
Jaakko Kaprio
Author Affiliation
Corresponding Author: Jaakko Kaprio, M.D., Ph.D., Department of Public Health, University of Helsinki, PO Box 41 (Mannerheimintie 172), Helsinki 00014, Finland.
Source
Nicotine Tob Res. 2012 Feb;14(2):153-60
Date
Feb-2012
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Alleles
Chromosomes, Human, Pair 20 - genetics
Data Interpretation, Statistical
Diagnostic and Statistical Manual of Mental Disorders
European Continental Ancestry Group - genetics
Female
Finland - epidemiology
Genetic Linkage
Genetic Predisposition to Disease
Genotype
Humans
Lod Score
Male
Microsatellite Repeats
Middle Aged
Phenotype
Sex Factors
Smoking - genetics
Smoking Cessation
Time Factors
Tobacco Use Disorder - epidemiology - genetics
Abstract
Chromosome 20 has previously been associated with nicotine dependence (ND) and smoking cessation. Our aim was to replicate and extend these findings.
First, a total of 759 subjects belonging to 206 Finnish families were genotyped with 18 microsatellite markers residing on chromosome 20, in order to replicate previous linkage findings. Then, the replication data were combined to an existing whole-genome linkage data resulting in a total of 1,302 genotyped subjects from 357 families. ND diagnosed by DSM-IV criteria, the Fagerstr?m Test for Nicotine Dependence (FTND) score, and the lifetime maximum number of cigarettes smoked within a 24-hr period (MaxCigs24) were used as phenotypes in the nonparametric linkage analyses.
We replicated previously reported linkage to DSM-IV ND, with a maximum logarithm of odd (LOD) score of 3.8 on 20p11, with females contributing more (maximum LOD [MLOD] score 3.4 on 20q11) than males (MLOD score 2.6 on 20p11). With the combined sample, a suggestive LOD score of 2.3 was observed for DSM-IV ND on 20p11. Sex-specific analyses revealed that the signal was driven by females with a maximum LOD score of 3.3 (on 20q11) versus LOD score of 1.3 in males (on 20q13) in the combined sample. No significant linkage signals were obtained for FTND or MaxCigs24.
Our results provide further evidence that chromosome 20 harbors genetic variants influencing ND in adult smokers.
Notes
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PubMed ID
22039074 View in PubMed
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Combined analysis of hereditary prostate cancer linkage to 1q24-25: results from 772 hereditary prostate cancer families from the International Consortium for Prostate Cancer Genetics.

https://arctichealth.org/en/permalink/ahliterature20560
Source
Am J Hum Genet. 2000 Mar;66(3):945-57
Publication Type
Article
Date
Mar-2000
Author
J. Xu
Author Affiliation
Program in Human Genetics, University of Maryland School of Medicine, Baltimore, MD, 21201, USA. jxu002@umaryland.edu
Source
Am J Hum Genet. 2000 Mar;66(3):945-57
Date
Mar-2000
Language
English
Publication Type
Article
Keywords
Age of Onset
Aged
Aged, 80 and over
Chromosome Mapping
Chromosomes, Human, Pair 1 - genetics
Fathers
Female
Genetic Heterogeneity
Genetic Markers - genetics
Genetic Predisposition to Disease
Humans
Lod Score
Male
Middle Aged
Models, Genetic
Pedigree
Prostatic Neoplasms - diagnosis - epidemiology - genetics
Research Support, Non-U.S. Gov't
Statistics, nonparametric
Abstract
A previous linkage study provided evidence for a prostate cancer-susceptibility locus at 1q24-25. Subsequent reports in additional collections of families have yielded conflicting results. In addition, evidence for locus heterogeneity has been provided by the identification of other putative hereditary prostate cancer loci on Xq27-28, 1q42-43, and 1p36. The present study describes a combined analysis for six markers in the 1q24-25 region in 772 families affected by hereditary prostate cancer and ascertained by the members of the International Consortium for Prostate Cancer Genetics (ICPCG) from North America, Australia, Finland, Norway, Sweden, and the United Kingdom. Overall, there was some evidence for linkage, with a peak parametric multipoint LOD score assuming heterogeneity (HLOD) of 1.40 (P=.01) at D1S212. The estimated proportion of families (alpha) linked to the locus was.06 (1-LOD support interval.01-.12). This evidence was not observed by a nonparametric approach, presumably because of the extensive heterogeneity. Further parametric analysis revealed a significant effect of the presence of male-to-male disease transmission within the families. In the subset of 491 such families, the peak HLOD was 2.56 (P=.0006) and alpha =.11 (1-LOD support interval.04-.19), compared with HLODs of 0 in the remaining 281 families. Within the families with male-to-male disease transmission, alpha increased with the early mean age at diagnosis (
Notes
Erratum In: Am J Hum Genet 2000 Aug;67(2):541-2
PubMed ID
10712209 View in PubMed
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Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

https://arctichealth.org/en/permalink/ahliterature90222
Source
Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3291-303
Publication Type
Article
Date
Jul-2009
Author
Hansen Lars
Mikkelsen Annemette
Nürnberg Peter
Nürnberg Gudrun
Anjum Iram
Eiberg Hans
Rosenberg Thomas
Author Affiliation
Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Source
Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3291-303
Date
Jul-2009
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Amino Acid Sequence
Base Sequence
Cataract - congenital - genetics
Child, Preschool
Connexins - genetics
Cornea - abnormalities
Crystallins - genetics
DNA Mutational Analysis
DNA-Binding Proteins - genetics
Denmark
European Continental Ancestry Group - genetics
Eye Diseases, Hereditary - genetics
Female
Genotype
Humans
Linkage (Genetics)
Lod Score
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Phenotype
Polymerase Chain Reaction
Proto-Oncogene Proteins c-maf - genetics
Registries
Sequence Analysis, DNA
Transcription Factors - genetics
beta-Crystallin B Chain - genetics
Abstract
PURPOSE: Identification of the causal mutations in 28 unrelated families and individuals with hereditary congenital cataract identified from a national Danish register of hereditary eye diseases. Seven families have been published previously, and the data of the remaining 21 families are presented together with an overview of the results in all families. METHODS: A combined screening approach of linkage analysis and sequencing of 17 cataract genes were applied to mutation analyses of total 28 families. RESULTS: The study revealed a disease locus in seven of eight families that were amenable to linkage analysis. All loci represented known genes, and subsequent sequencing identified the mutations. Mutations were found in eight genes, among them crystallins (36%), connexins (22%), and the transcription factors HSF4 and MAF (15%). One family carried a complex CRYBB2 allele of three DNA variants, and a gene conversion is the most likely mutational event causing this variant. Ten families had microcornea cataract, and a mutation was identified in eight of those. Most families displayed mixed phenotypes with nuclear, lamellar, and polar opacities and no apparent genotype-phenotype correlation emerged. CONCLUSIONS: In total, 28 families were analyzed, and mutations were identified in 20 (71%) of them. Despite considerable locus heterogeneity, a high mutation identification rate was achieved by sequencing a limited number of major cataract genes. Provided these results are representative of Western European populations, the applied sequencing strategy seems to be suitable for the exploration of the large group of isolated cataracts with unknown etiology.
PubMed ID
19182255 View in PubMed
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A dominant gene for developmental dyslexia on chromosome 3.

https://arctichealth.org/en/permalink/ahliterature193082
Source
J Med Genet. 2001 Oct;38(10):658-64
Publication Type
Article
Date
Oct-2001
Author
J. Nopola-Hemmi
B. Myllyluoma
T. Haltia
M. Taipale
V. Ollikainen
T. Ahonen
A. Voutilainen
J. Kere
E. Widén
Author Affiliation
Department of Paediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Finland.
Source
J Med Genet. 2001 Oct;38(10):658-64
Date
Oct-2001
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Analysis of Variance
Child
Chromosome Mapping
Chromosomes, Human, Pair 3 - genetics
Dyslexia - genetics - physiopathology
Female
Finland
Genes, Dominant - genetics
Haplotypes - genetics
Humans
Lod Score
Male
Memory - physiology
Middle Aged
Pedigree
Psychological Tests
Radiation Hybrid Mapping
Reading
Receptors, Dopamine D2 - genetics
Receptors, Dopamine D3
Receptors, Serotonin - genetics
Abstract
Developmental dyslexia is a neurofunctional disorder characterised by an unexpected difficulty in learning to read and write despite adequate intelligence, motivation, and education. Previous studies have suggested mostly quantitative susceptibility loci for dyslexia on chromosomes 1, 2, 6, and 15, but no genes have been identified yet. We studied a large pedigree, ascertained from 140 families considered, segregating pronounced dyslexia in an autosomal dominant fashion. Affected status and the subtype of dyslexia were determined by neuropsychological tests. A genome scan with 320 markers showed a novel dominant locus linked to dyslexia in the pericentromeric region of chromosome 3 with a multipoint lod score of 3.84. Nineteen out of 21 affected pedigree members shared this region identical by descent (corrected p
Notes
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PubMed ID
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