Skip header and navigation

Refine By

124 records – page 1 of 13.

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
Cites: Am J Hum Genet. 1997 Jan;60(1):27-398981944
Cites: Am J Hum Genet. 1996 Apr;58(4):892-58644756
Cites: Acta Psychiatr Neurol Suppl. 1950;65:1-28714846691
Cites: Dev Med Child Neurol. 1973 Apr;15(2):184-74697752
Cites: Ann Hum Genet. 1976 Jul;40(1):1-23962317
Cites: Behav Genet. 1980 Jan;10(1):9-307425998
Cites: Science. 1983 Mar 18;219(4590):1345-76828864
Cites: Am J Hum Genet. 1985 May;37(3):482-983859205
Cites: Clin Genet. 1987 Aug;32(2):118-93652490
Cites: Nature. 1987 Oct 8-14;329(6139):537-93657975
Cites: Am J Hum Genet. 1988 Feb;42(2):315-263422543
Cites: Nucleic Acids Res. 1988 Feb 11;16(3):12153344216
Cites: Am J Hum Genet. 1989 Mar;44(3):388-962916582
Cites: Am J Hum Genet. 1989 Apr;44(4):543-512929597
Cites: J Am Acad Child Adolesc Psychiatry. 1989 May;28(3):326-312661524
Cites: J Learn Disabil. 1989 Jun-Jul;22(6):339-482738467
Cites: J Am Acad Child Adolesc Psychiatry. 1990 Mar;29(2):204-131969860
Cites: Arch Neurol. 1990 Aug;47(8):919-262375699
Cites: Nucleic Acids Res. 1990 Jul 25;18(14):43012377495
Cites: Arch Neurol. 1991 Apr;48(4):410-62012516
Cites: Nucleic Acids Res. 1991 Feb 25;19(4):9682017389
Cites: J Immunol. 1991 Aug 1;147(3):1053-91861069
Cites: Nucleic Acids Res. 1991 Aug 11;19(15):43061870992
Cites: Neuropsychologia. 1992 Mar;30(3):209-271574158
Cites: Cortex. 1992 Sep;28(3):483-911395648
Cites: Arch Neurol. 1993 May;50(5):461-98489401
Cites: Am J Hum Genet. 1993 Jul;53(1):252-638317490
Cites: Diabetes. 1993 Aug;42(8):1215-88392011
Cites: Am J Hum Genet. 1993 Oct;53(4):908-158213819
Cites: Hum Hered. 1993 Nov-Dec;43(6):329-368288263
Cites: Genet Epidemiol. 1993;10(6):389-948314032
Cites: Genet Epidemiol. 1993;10(6):395-4008314033
Cites: Science. 1994 Oct 14;266(5183):276-97939663
Cites: Am J Hum Genet. 1995 Aug;57(2):487-987668275
Cites: Nature. 1996 Mar 14;380(6570):152-48600387
Cites: Genomics. 1996 Apr 1;33(1):1-88617492
Cites: Am J Hum Genet. 1996 Apr;58(4):867-808644751
Erratum In: Am J Hum Genet 1999 Jan;64(1):334
PubMed ID
9792873 View in PubMed
Less detail

ALOX5AP gene and the PDE4D gene in a central European population of stroke patients.

https://arctichealth.org/en/permalink/ahliterature176042
Source
Stroke. 2005 Apr;36(4):731-6
Publication Type
Article
Date
Apr-2005
Author
Elin Lõhmussaar
Andreas Gschwendtner
Jakob C Mueller
Tõnis Org
Erich Wichmann
Gerhard Hamann
Thomas Meitinger
Martin Dichgans
Author Affiliation
Institutes of Human Genetics, GSF-National Research Institute for Environment and Health, Neuherberg, Germany.
Source
Stroke. 2005 Apr;36(4):731-6
Date
Apr-2005
Language
English
Publication Type
Article
Keywords
3',5'-Cyclic-AMP Phosphodiesterases - genetics
5-Lipoxygenase-Activating Proteins
Aged
Alleles
Carrier Proteins - genetics
Case-Control Studies
Cyclic Nucleotide Phosphodiesterases, Type 3
Cyclic Nucleotide Phosphodiesterases, Type 4
Edetic Acid - chemistry
Europe, Eastern
Female
Gene Frequency
Genetic markers
Genotype
Haplotypes
Humans
Iceland
Ischemia
Linkage Disequilibrium
Magnetic Resonance Imaging
Male
Membrane Proteins - genetics
Microsatellite Repeats
Middle Aged
Odds Ratio
Polymorphism, Single Nucleotide
Regression Analysis
Risk
Risk factors
Sex Factors
Stroke - genetics
Abstract
Recent evidence has implicated the genes for 5-lipoxygenase activating protein (ALOX5AP) and phosphodiesterase 4D (PDE4D) as susceptibility genes for stroke in the Icelandic population. The aim of the present study was to explore the role of these genes in a central European population of stroke patients.
A total of 639 consecutive stroke patients and 736 unrelated population-based controls that had been matched for age and sex were examined using a case-control design. Twenty-two single-nucleotide polymorphisms (SNPs) covering ALOX5AP were genotyped. For PDE4D, microsatellite AC008818-1 and 12 SNPs, which tag all common haplotypes in previously identified linkage disequilibrium (LD) blocks, were analyzed.
A nominally significant association with stroke was observed with several SNPs from ALOX5AP, including SNP SG13S114, which had been part of the Icelandic at-risk haplotype. Associations were stronger in males than in females, with SG13S114 (odds ratio, 1.24; 95% CI, 1.04 to 1.55; P=0.017) and SG13S100 (odds ratio, 1.26; 95% CI 1.03 to 1.54; P=0.024) showing the strongest associations. No significant associations were detected with single markers and haplotypes in PDE4D. The frequencies of single-marker alleles and haplotypes differed largely from those in the Icelandic population.
The present study suggests that sequence variants in the ALOX5AP gene are significantly associated with stroke, particularly in males. Variants in the PDE4D gene are not a major risk factor for stroke in individuals from central Europe. Population differences in allele and haplotype frequencies as well as LD structure may contribute to the observed differences between populations.
PubMed ID
15731479 View in PubMed
Less detail

Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample.

https://arctichealth.org/en/permalink/ahliterature144059
Source
Psychiatr Genet. 2010 Jun;20(3):102-8
Publication Type
Article
Date
Jun-2010
Author
Katri Kantojärvi
Päivi Onkamo
Raija Vanhala
Reija Alen
Minttu Hedman
Antti Sajantila
Taina Nieminen-von Wendt
Irma Järvelä
Author Affiliation
Department of Medical Genetics, University of Helsinki, Helsinki, Finland. katri.kantojarvi@helsinki.fi
Source
Psychiatr Genet. 2010 Jun;20(3):102-8
Date
Jun-2010
Language
English
Publication Type
Article
Keywords
Alleles
Child Development Disorders, Pervasive - genetics
Chromosomes, Human, Pair 11 - genetics
Chromosomes, Human, Pair 9 - genetics
Female
Finland
Genetic markers
Genetic Predisposition to Disease
Humans
Infant
Jumonji Domain-Containing Histone Demethylases - genetics
Linkage Disequilibrium - genetics
Male
Polymorphism, Single Nucleotide - genetics
Abstract
Autism spectrum disorders (ASD) often show obsessive repetitive symptoms that are characteristic to obsessive-compulsive disorder (OCD). Aberrant glutamate function has been suggested to a risk for both ASDs and OCD. Considering the common metabolic pathway and recent results from association studies both in OCD and ASDs, a question, whether there is common molecular background in ASDs and OCD, was raised.
Ten single nucleotide polymorphisms (SNPs) at 9p24 and 11p12-p13 containing glutamate transporter genes SLC1A1 and SLC1A2 and their neighboring regions in 175 patients with ASDs and 216 controls of Finnish origin were analyzed using real-time-PCR or direct sequencing.
The strongest association was detected with rs1340513 in the JMJD2C gene at 9p24.1 (P=0.007; corrected P=0.011) that is the same SNP associated with infantile autism (P=0.0007) in the autism genome project consortium (2007). No association was detected at 11p12-p13 with ASD. Interestingly, the strongest association in OCD has been found at rs301443 (P=0.000067) residing between SLC1A1 and JMJD2C at 9p24.
In summary, our results give evidence for a possible common locus for OCD and ASDs at 9p24. We speculate that the area may represent a special candidate region for obsessive repetitive symptoms in ASDs.
PubMed ID
20410850 View in PubMed
Less detail

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
Less detail

Analysis of HPC1, HPCX, and PCaP in Icelandic hereditary prostate cancer.

https://arctichealth.org/en/permalink/ahliterature20087
Source
Hum Genet. 2000 Oct;107(4):372-5
Publication Type
Article
Date
Oct-2000
Author
J T Bergthorsson
G. Johannesdottir
A. Arason
K R Benediktsdottir
B A Agnarsson
J E Bailey-Wilson
E. Gillanders
J. Smith
J. Trent
R B Barkardottir
Author Affiliation
Department of Pathology, University Hospital of Iceland, Reykjavik.
Source
Hum Genet. 2000 Oct;107(4):372-5
Date
Oct-2000
Language
English
Publication Type
Article
Keywords
Alleles
Chromosomes, Human, Pair 1 - genetics
Genetic markers
Humans
Iceland
Linkage (Genetics)
Lod Score
Male
Oncogenes
Prostatic Neoplasms - genetics
Research Support, Non-U.S. Gov't
X Chromosome - genetics
Abstract
Putative prostate cancer susceptibility loci have recently been identified by genetic linkage analysis on chromosomes 1q24-25 (HPC1). 1q44.243 (PCaP), and Xq27-28 (HPCX). In order to estimate the genetic linkage in Icelandic prostate cancer families, we genotyped 241 samples from 87 families with eleven markers in the HPC1 region, six markers at PCaP, and eight at HPCX. Concurrently, we assessed allelic imbalance at the HPC1 and PCaP loci in selected tumors from the patients. For each of the candidate regions, the combined parametric and non-parametric LOD scores were strongly negative. Evidence for linkage allowing for genetic heterogeneity was also insignificant for all the regions. The results were negative irrespective of whether calculations were performed for the whole material or for a selected set of early age at onset families. The prevalence of allelic imbalance was relatively low in both the HPC1 (0%-9%) and PCaP (5%-20%) regions and was not elevated in tumors from positively linked families. Our studies indicate that the putative cancer susceptibility genes at chromosomes 1q24-25, 1q44.2-43, and Xq27-28 are unlikely to contribute significantly to hereditary prostate cancer in Iceland and that selective loss of the HPC1 and PCaP loci is a relatively rare somatic event in prostate cancers.
PubMed ID
11129338 View in PubMed
Less detail

[Analysis of intragenic polymorphic markers of the CFTR gene in cystic fibrosis patients and health donors from Bashkorostan].

https://arctichealth.org/en/permalink/ahliterature182092
Source
Genetika. 2003 Nov;39(11):1542-9
Publication Type
Article
Date
Nov-2003
Author
G F Korytina
T V Viktorova
T E Uvashchenko
V S Baranov
E K Khusnutdinova
Author Affiliation
Institute of Biochemistry and Genetics, Russian Academy of Sciences, Ufa, 450054 Bashkortostan, Russia.
Source
Genetika. 2003 Nov;39(11):1542-9
Date
Nov-2003
Language
Russian
Publication Type
Article
Keywords
Alleles
Case-Control Studies
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Gene Frequency
Genetic markers
Genetics, Population
Haplotypes
Humans
Russia
Abstract
The differences in the polymorphic allele frequency distribution patterns of the biallelic (M470 and TUB20) and microsatellite (IVS6aGATT, IVS8CA, and IVS17CA) markers within the CFTR gene between normal and delF508 chromosomes have been established. For most of the marker loci similar distribution of the allele frequencies on normal and mutant chromosomes without delF508 was demonstrated. Certain polymorphic alleles displayed substantial linkage disequilibrium with the delF508 mutation. Analysis of the IVS6aGATT-IVS8CA-M470-IVS17CA-TUB20 haplotypes association on normal and mutant chromosomes provided identification of the delF508 ancestral haplotype. It was suggested that delF508 mutant chromosomes were introduced into the modern Bashkir gene pool as a result of Slavic migrations from the Eastern Europe. The IVS6aGATT-IVS8CA-M470-IVS17CA-TUB20 major haplotype (77272) revealed was statistically significantly most frequently found on the mutant chromosomes without the delF508 mutation. This finding suggests that the Bashkir cystic fibrosis patients, mostly belonging to the Turkic-speaking families, possessed specific CF gene defect associated with the given haplotype.
PubMed ID
14714468 View in PubMed
Less detail

[Analysis of various polymorphic markers of the CFTR gene in cystic fibrosis patients and healthy donors from the Moscow region].

https://arctichealth.org/en/permalink/ahliterature215511
Source
Genetika. 1995 Apr;31(4):532-5
Publication Type
Article
Date
Apr-1995
Author
F A Amosenko
M A Sazonova
N I Kapranov
I S Trubnikova
V N Kalinin
Source
Genetika. 1995 Apr;31(4):532-5
Date
Apr-1995
Language
Russian
Publication Type
Article
Keywords
Alleles
Case-Control Studies
Cystic Fibrosis - diagnosis - genetics
Gene Frequency
Genetic markers
Humans
Linkage Disequilibrium
Moscow
Polymorphism, Genetic
Predictive value of tests
Reference Values
Repetitive Sequences, Nucleic Acid
Abstract
Allelic frequencies at three polymorphic markers in the CFTR gene were detected on chromosomes derived from cystic fibrosis (CF) patients and healthy donors from Moscow and the Moscow region. These polymorphic markers are tetranucleotide tandem repeats GATT in intron 6B, M470V in exon 10, and T854T in exon 14 (fragment A). Frequencies at allele 1 of the M470V marker, along with allele 2 of GATT and T854T, are two times higher for CF patients without delta F508 mutation than for healthy donors, and there is linkage disequilibrium of these alleles of the polymorphic markers analyzed with the CF gene. Allele 1 of M470V and T854T markers, as well as allele 2 of the GATT marker (six repeats), are absolutely linked to mutation F508 of the CFTR gene. Using the polymorphic markers studied, family analysis of CF was carried out in two families.
PubMed ID
7607440 View in PubMed
Less detail

An association study of suicide and candidate genes in the serotonergic system.

https://arctichealth.org/en/permalink/ahliterature117298
Source
J Affect Disord. 2013 Jun;148(2-3):291-8
Publication Type
Article
Date
Jun-2013
Author
Henriette N Buttenschøn
Tracey J Flint
Leslie Foldager
Ping Qin
Søren Christoffersen
Nikolaj F Hansen
Ingrid B Kristensen
Preben B Mortensen
Anders D Børglum
Ole Mors
Author Affiliation
Centre for Psychiatric Research, Aarhus University Hospital, Risskov, Denmark. henrbutt@rm.dk
Source
J Affect Disord. 2013 Jun;148(2-3):291-8
Date
Jun-2013
Language
English
Publication Type
Article
Keywords
Adult
Age Factors
Aged
Alleles
Case-Control Studies
Denmark
Female
Genetic Markers - genetics
Humans
Male
Middle Aged
Monoamine Oxidase - genetics
Risk factors
Serotonin Plasma Membrane Transport Proteins - genetics
Suicide - statistics & numerical data
Tryptophan Hydroxylase - genetics
Abstract
Strong evidence demonstrates a genetic susceptibility to suicidal behaviour and a relationship between suicide and mental disorders. The aim of this study was to test for association between suicide and five selected genetic variants, which had shown association with suicide in other populations.
We performed a nationwide case-control study on all suicide cases sent for autopsy in Denmark between the years 2000 and 2007. The study comprised 572 cases and 1049 controls and is one of the largest genetic studies in completed suicide to date. The analysed markers were located within the Serotonin Transporter (SLC6A4), Monoamine Oxidase-A (MAOA) and the Tryptophan Hydroxylase I and II (TPH1 and TPH2) genes.
None of the genetic markers within SLC6A4, MAOA, TPH1 and TPH2 were significantly associated with completed suicide or suicide method in the basic association tests. Exploratory interaction test showed that the minor allele of rs1800532 in TPH1 has a protective effect for males younger than 35 years and females older than 50 years, whereas for the oldest male subjects, it tended to be a risk factor. We also observed a significant interaction between age-group and the 5-HTTLPR genotype (with and without rs25531) in SLC6A4. The long allele or high expression allele tends to have a protective effect in the middle age-group.
We only analysed a limited number of genetic variants.
None of the analysed variants are strong risk factors. To reveal a better understanding of the genes involved in suicide, we suggest future studies should include both genetic and non-genetic factors.
PubMed ID
23313272 View in PubMed
Less detail

Apolipoprotein e genotypes: relationship to cognitive functioning, cognitive decline, and survival in nonagenarians.

https://arctichealth.org/en/permalink/ahliterature76491
Source
J Am Geriatr Soc. 2006 Apr;54(4):654-8
Publication Type
Article
Date
Apr-2006
Author
Bathum Lise
Christiansen Lene
Jeune Bernard
Vaupel James
McGue Matt
Christensen Kaare
Author Affiliation
Department of Clinical Biochemistry, Odense University Hospital, Odense, Denmark. L.Bathum@ouh.fyns-amt.dk
Source
J Am Geriatr Soc. 2006 Apr;54(4):654-8
Date
Apr-2006
Language
English
Publication Type
Article
Keywords
Aged, 80 and over
Alleles
Apolipoproteins E - genetics
Cognition Disorders - diagnosis - genetics
Denmark - epidemiology
Female
Genetic Markers - genetics
Genotype
Geriatric Assessment
Humans
Male
Proportional Hazards Models
Registries
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Survival Analysis
Abstract
OBJECTIVES: To evaluate the extent to which relationships between apolipoprotein E, cognitive functioning, and survival in people aged 60 to 80 persist into advanced old age. DESIGN: Examine the effect of apolipoprotein E genotypes on baseline cognitive functioning, cognitive decline over 5 years, and survival in a cohort of 1,551 nonagenarians. SETTING: The Danish 1905 birth cohort. PARTICIPANTS: One thousand five hundred fifty-one nonagenarians from the Danish 1905 birth cohort. MEASUREMENTS: Cognitive functioning was assessed using the Mini-Mental State Examination (MMSE) and five brief cognitive tests (cognitive composite). RESULTS: The subjects were stratified into four groups by occurrence of a protective (epsilon2) or a risk (epsilon4) apo E allele (epsilon22 and epsilon23, epsilon33, epsilon24 and epsilon34, epsilon44). At intake, the mean scores for the three genotype groups were 22.1, 21.8, 21.4, and 21.0 for MMSE and 0.10, 0.07, -0.02, and 0.30 for the cognitive composite, respectively. Growth-curve analyses showed that, although individuals carrying at least one epsilon4 allele had slightly lower MMSE scores and declined slightly more rapidly over time, this effect was not statistically significant and was not apparent in scores on the cognitive composite. In subjects whose functioning was relatively well preserved (those still living and able to participate in the assessment, and whose cognitive functioning had declined less than 4 points on the MMSE), epsilon4 frequencies tended to decline at subsequent waves (P=.03, chi-square test for trend), but epsilon4 had no significant survival disadvantage (hazard ratio=1.11 (95% confidence interval=0.99-1.25; P=.07). CONCLUSION: Apo E genotype has a small effect on the probability of remaining a well-functioning nonagenarian but no separately detectable effect on cognitive functioning, cognitive decline, or survival.
PubMed ID
16686878 View in PubMed
Less detail

Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population.

https://arctichealth.org/en/permalink/ahliterature213797
Source
Am J Hum Genet. 1995 Dec;57(6):1486-98
Publication Type
Article
Date
Dec-1995
Author
N L Kaplan
B S Weir
Author Affiliation
Statistics and Biomathematics Branch, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.
Source
Am J Hum Genet. 1995 Dec;57(6):1486-98
Date
Dec-1995
Language
English
Publication Type
Article
Keywords
Alleles
Chromosome Mapping
Finland
Genetic Diseases, Inborn - genetics
Genetic Markers - genetics
Humans
Likelihood Functions
Models, Genetic
Recombination, Genetic - genetics
Abstract
In the past several years, allelic association has helped map a number of rare genetic diseases in the human genome. A commonly used upper bound on the recombination fraction between the disease gene and an associated marker is known to be biased downward, so there is the possibility that an investigator could be misled. This upper bound is based on a moment equation that can be derived within the context of a Poisson branching process, so its performance can be compared with a recently proposed likelihood bound. We show that the confidence level of the moment upper bound is much lower than expected, while the confidence level of the likelihood bound is in line with expectation. The effects of mutation at either the marker or disease locus on the upper bounds are also investigated. Results indicate that mutation is not an important force for typical mutation rates, unless the recombination fraction between the marker and disease locus is very small or the disease allele is very rare in the general population. Finally, the impact of sample size on the likelihood bound is investigated. The results are illustrated with data on 10 simple genetic diseased in the Finnish population.
Notes
Cites: Tissue Antigens. 1981 Nov;18(5):356-637344182
Cites: Nat Genet. 1995 Feb;9(2):152-97719342
Cites: Am J Hum Genet. 1992 Mar;50(3):559-661347194
Cites: Nature. 1992 Oct 29;359(6398):794-8011436057
Cites: Nat Genet. 1992 May;1(2):99-1031302016
Cites: Genomics. 1993 Jun;16(3):720-58325646
Cites: Hum Mol Genet. 1993 Jul;2(7):1007-148364537
Cites: Hum Mol Genet. 1993 Aug;2(8):1229-348104628
Cites: J Med Genet. 1993 Oct;30(10):857-658230163
Cites: Am J Hum Genet. 1994 May;54(5):757-648178817
Cites: Am J Hum Genet. 1994 Jun;54(6):1042-98198127
Cites: Nat Genet. 1992 Nov;2(3):204-111345170
Cites: Science. 1994 Sep 30;265(5181):2037-488091226
Cites: Cell. 1994 Sep 23;78(6):1073-877923357
Cites: Am J Hum Genet. 1994 Oct;55(4):695-7017942847
Cites: Am J Hum Genet. 1994 Nov;55(5):937-457977356
Cites: Nat Genet. 1994 Sep;8(1):83-77987397
Cites: Am J Hum Genet. 1995 Jan;56(1):18-327825575
Cites: Am J Hum Genet. 1995 Mar;56(3):654-627887419
Cites: Science. 1989 Sep 8;245(4922):1073-802570460
PubMed ID
8533779 View in PubMed
Less detail

124 records – page 1 of 13.