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Wu Qiu-Yue - - 2014
To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene. Five untreated 46, XX patients with SRY-positive were referred for infertility. Clinical data were collected, and Karyotype analysis of ...
Van der Meulen Joni J Center for Medical Genetics; Ghent University; Ghent, - - 2014
In 2007, the Ubiquitously Transcribed Tetratricopeptide Repeat on chromosome X (UTX) was identified as a histone demethylase that specifically targets di- and tri-methyl groups on lysine 27 of histone H3 (H3K27me2/3). Since then, UTX has been proven essential during normal development, as it is critically required for correct reprogramming, embryonic ...
Lambeth L S - - 2011
Sex in birds is determined genetically, as in mammals. However, in birds, female is the heterogametic sex (ZW), while the male is homogametic (ZZ). Although the exact mechanism of avian sex determination is still unclear, genes on one or both of the sex chromosomes must control sexual differentiation of the ...
Favetta L A - - 2011
The management of disorders of sexual development (DSD) in humans and domestic animals has been the subject of intense interest for decades. The association between abnormal chromosome constitutions and DSDs in domestic animals has been recorded since the beginnings of conventional cytogenetic analysis. Deviated karyotypes consisting of abnormal sex chromosome ...
Escamilla-Del-Arenal Martin - - 2011
X-chromosome inactivation (XCI) results in the transcriptional silencing of one X-chromosome in females to attain gene dosage parity between XX female and XY male mammals. Mammals appear to have developed rather diverse strategies to initiate XCI in early development. In placental mammals XCI depends on the regulatory noncoding RNA X-inactive ...
Pastor Guzmán José María - - 2011
We present a case of X-Y translocation with male phenotype (46,XX testicular disorder of sex development) and review the literature. Disorders of sex development with mismatch of genetic, gonadal and phenotypic sex are quite rare, and some are due to genetic or chromosomal abnormalities. The karyotype was investigated by a ...
Schubert Ingo - - 2011
Eukaryotic chromosomes occupy distinct territories within interphase nuclei. The arrangement of chromosome territories (CTs) is important for replication, transcription, repair and recombination processes. Our knowledge about interphase chromatin arrangement is mainly based on results from in situ labeling approaches. The phylogenetic affiliation of a species, cell cycle, differentiation status and ...
Dick Danielle M - - 2010
Twin studies provide strong evidence that there is a shared genetic liability that predisposes to a number of different psychiatric outcomes related to behavioral disinhibition. Further, alcohol dependence comorbid with other disinhibitory disorders is particularly heritable. Chromosome 2p14-2q14.3 has been linked to multiple psychiatric conditions related to behavioral undercontrol. In ...
Strickfaden Hilmar - - 2010
This live cell study of chromatin dynamics in four dimensions (space and time) in cycling human cells provides direct evidence for three hypotheses first proposed by Theodor Boveri in seminal studies of fixed blastomeres from Parascaris equorum embryos: (I) Chromosome territory (CT) arrangements are stably maintained during interphase. (II) Chromosome ...
Aldave Anthony J AJ Jules Stein Eye Institute, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095, USA. - - 2010
To identify the genetic basis of posterior amorphous corneal dystrophy (PACD) segregating in a large pedigree. The authors performed clinical evaluation of a previously unreported pedigree with PACD, light and electron microscopic examination of an excised corneal button, genomewide linkage analysis, fine mapping linkage and haplotype analysis, and screening of ...
Neff Chris D - - 2010
Linkage analysis on Utah pedigrees with strong family histories of major depression including only cases with the SLC6A4 HTTLPR short allele revealed a linkage peak on chromosome 4 (maximum HLOD = 3.5). This evidence suggests epistasis between SLC6A4 and an unknown gene as risk factors for major depression.
Elferink Martin G - - 2010
BACKGROUND: Although several genetic linkage maps of the chicken genome have been published, the resolution of these maps is limited and does not allow the precise identification of recombination hotspots. The availability of more than 3.2 million SNPs in the chicken genome and the recent advances in high throughput genotyping ...
Lubieniecki Krzysztof P - - 2010
Several lines of evidence including allozyme analysis, restriction digest patterns and sequencing of mtDNA as well as mini- and micro-satellite allele frequencies indicate that Atlantic salmon (Salmo salar) from North America and Europe are genetically distinct. These observations are supported by karyotype analysis, which revealed that North American Atlantic salmon ...
Cao Yunfei - - 2009
Atopic dermatitis (AD) is considered as a hereditary skin disease. Recently, a latest form of genetic research, genome-wide linkage study, has been carried out to detect its specific susceptibility genes. Since the results of these studies have been inconsistent, with linkage confirmed in different regions, we performed this meta-analysis. To ...
Tapanes-Castillo Alexis A The Miami Project to Cure Paralysis, Miller School of Medicine, University of Miami, Lois Pope LIFE Center, Room 4-16, 1095 NW 14th Terrace, Miami, FL 33136, - - 2010
Humans with L1 cell adhesion molecule (L1CAM) mutations exhibit X-linked hydrocephalus, as well as other severe neurological disorders. L1-6D mutant mice, which are homozygous for a deletion that removes the sixth immunoglobulin-like domain of L1cam, seldom display hydrocephalus on the 129/Sv background. However, the same L1-6D mutation produces severe hydrocephalus ...
Allen-Brady Kristina - - 2009
Predisposition factors for pelvic floor disorders (PFDs), including pelvic organ prolapse (POP), stress urinary incontinence (SUI), urge urinary incontinence (UUI), and hernias, are not well understood. We assessed linkage evidence for PFDs in mostly sister pairs who received treatment for moderate-to-severe POP. We genotyped 70 affected women of European descent ...
Prokopenko Inga I Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, - - 2009
Linkage of the chromosome 1q21-25 region to type 2 diabetes has been demonstrated in multiple ethnic groups. We performed common variant fine-mapping across a 23-Mb interval in a multiethnic sample to search for variants responsible for this linkage signal. In all, 5,290 single nucleotide polymorphisms (SNPs) were successfully genotyped in ...
Bellenguez Céline - - 2009
Large genealogies are potentially very informative for linkage analysis. However, the software available for exact non-parametric multipoint linkage analysis is limited with respect to the complexity of the families it can handle. A solution is to split the large pedigrees into sub-families meeting complexity constraints. Different methods have been proposed ...
Holmans P A PA Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, - - 2009
A genomewide linkage scan was carried out in eight clinical samples of informative schizophrenia families. After all quality control checks, the analysis of 707 European-ancestry families included 1615 affected and 1602 unaffected genotyped individuals, and the analysis of all 807 families included 1900 affected and 1839 unaffected individuals. Multipoint linkage ...
Kukekova Anna V AV James A. Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Hungerford Hill Road, Ithaca, New York 14853, - - 2009
Rod-cone dysplasia type 2 (rcd2) is an autosomal recessive disorder that segregates in collie dogs. Linkage disequilibrium and meiotic linkage mapping were combined to take advantage of population structure within this breed and to fine map rcd2 to a 230-kb candidate region that included the gene C1orf36 responsible for human ...
Forabosco Paola - - 2009
A meta-analysis of genome-wide linkage studies allows us to summarize the extensive information available from family-based studies, as the field moves into genome-wide association studies. Here we apply the genome scan meta-analysis (GSMA) method, a rank-based, model-free approach, to combine results across eight independent genome-wide linkages performed on celiac disease ...
Frazier-Bowers S - - 2009
Despite the prevalence of craniofacial disorders, the genetic contribution remains poorly understood. Class III malocclusion represents a specific craniofacial problem that can be handicapping, both functionally and socially. We hypothesized that the Class III phenotype is genetically linked to specific loci that regulate maxillary or mandibular growth. To determine the ...
Phillips Ruth B - - 2009
Most teleost species, especially freshwater groups such as the Esocidae which are the closest relatives of salmonids, have a karyotype comprising 25 pairs of acrocentric chromosomes and 48-52 chromosome arms. After the common ancestor of salmonids underwent a whole genome duplication, its karyotype would have 100 chromosome arms, and this ...
Blom Elin S ES Section of Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden. - - 2009
Genome-wide linkage studies for Alzheimer's disease have implicated several chromosomal regions as potential loci for susceptibility genes. In the present study, we have combined a selection of affected relative pairs (ARPs) from the UK and the USA included in a previous linkage study by Myers et al. (Am J Med ...
Ng M Y M MY King's College London, Department of Medical and Molecular Genetics, London, - - 2009
A genome scan meta-analysis (GSMA) was carried out on 32 independent genome-wide linkage scan analyses that included 3255 pedigrees with 7413 genotyped cases affected with schizophrenia (SCZ) or related disorders. The primary GSMA divided the autosomes into 120 bins, rank-ordered the bins within each study according to the most positive ...
Menotti-Raymond Marilyn - - 2009
We report on the completion of an autosomal genetic linkage (GL) map of the domestic cat (Felis silvestris catus). Unlike two previous linkage maps of the cat constructed with a hybrid pedigree between the domestic cat and the Asian leopard cat, this map was generated entirely with domestic cats, using ...
Gillespie Nathan A - - 2008
We report the first genome-wide scan of adolescent personality. We conducted a genome-wide scan to detect linkage for measures of adolescent Psychoticism, Extraversion, Neuroticism, and Lie from the Junior Eysenck Personality Questionnaire. Data are based on 1,280 genotyped Australian adolescent twins and their siblings. The highest linkage peaks were found ...
Distel Marijn A - - 2008
OBJECTIVE: A large-scale twin study implicated genetic influences on borderline personality disorder (BPD) features, with a heritability estimate of 42%. To date, no genome-wide linkage study has been conducted to identify the genomic region(s) containing the quantitative trait loci that influence the manifestation of BPD features. METHODS: We conducted a ...
Lesch Klaus-Peter - - 2008
A genome-wide association (GWA) study with pooled DNA in adult attention-deficit/hyperactivity disorder (ADHD) employing approximately 500K SNP markers identifies novel risk genes and reveals remarkable overlap with findings from recent GWA scans in substance use disorders. Comparison with results from our previously reported high-resolution linkage scan in extended pedigrees confirms ...
Ghosh Saurabh S Human Genetics Unit, Indian Statistical Institute, Kolkata, India. - - 2008
In this report, we present results of a genome-wide linkage scan using as a phenotype the number of externalizing symptoms associated with alcohol use disorders. Subjects were collected by the Collaborative Study on the Genetics of Alcoholism project from families in which at least three first degree relatives were affected ...
Liang Kung-Yee - - 2008
Obsessive-compulsive disorder (OCD) is likely a disorder involving complex genetic transmission. This suggests that multiple genetic and environmental factors are involved in its etiology. This is complicated further by the probability of genetic heterogeneity for this phenotype. In this report, we describe a preliminary approach to deal with both complexities. ...
Blom Elin S ES Section of Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden. - - 2008
We have studied the impact of the apolipoprotein E gene (APOE) on the chromosome 19 linkage peak from an analysis of sib-pairs affected by Alzheimer's disease. We genotyped 417 affected sib-pairs (ASPs) collected in Sweden and Norway (SWE), the UK and the USA for 10 microsatellite markers on chromosome 19. ...
Larkin E K EK Center for Clinical Investigation, Case Western Reserve University, School of Medicine, Cleveland, OH 44106-6083, USA. - - 2008
To understand the genetics of sleep apnea, we evaluated the relationship between the apnea hypopnea index (AHI) and body mass index (BMI) through linkage analysis to identify genetic loci that may influence AHI and BMI jointly and AHI independent of BMI. Haseman-Elston sibling regression was conducted on AHI, AHI adjusted ...
Rousseau-Gueutin Mathieu - - 2008
Macrosynteny and colinearity between Fragaria (strawberry) species showing extreme levels of ploidy have been studied through comparative genetic mapping between the octoploid cultivated strawberry (F. xananassa) and its diploid relatives. A comprehensive map of the octoploid strawberry, in which almost all linkage groups are ranged into the seven expected homoeologous ...
Schaid Daniel J DJ Division of Biostatistics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA. - - 2008
Recognizing that multiple genes are likely responsible for common complex traits, statistical methods are needed to rapidly screen for either interacting genes or locus heterogeneity in genetic linkage data. To achieve this, some investigators have proposed examining the correlation of pedigree linkage scores between pairs of chromosomal regions, because large ...
Glatt Stephen J SJ Department of Psychiatry and Behavioral Sciences, and Medical Genetics Research Center, SUNY Upstate Medical University, 750 East Adams Street, Syracuse, NY 13210, USA. - - 2008
Previously we reported the results of Wave One of a genome-wide search for heroin dependence susceptibility loci in Han Chinese families from Yunnan Province, China, near Asia's "Golden Triangle". Our initial analysis of 194 independent affected sibling-pairs from 192 families identified two regions with nonparametric linkage (NPL) Z-scores greater than ...
Schumacher Johannes - - 2008
BACKGROUND: Linkage and association studies in dyslexia suggest that a susceptibility locus exists on chromosome 15q15-q21. OBJECTIVE: This study aims to evaluate these findings in an independent sample of dyslexia. METHODS: We performed linkage and association analyses using 82 families with dyslexia and 19 STR markers covering the target region ...
Stapley J - - 2008
Passeriformes are the largest order of birds and one of the most widely studied groups in evolutionary biology and ecology. Until recently genomic tools in passerines relied on chicken genomic resources. Here we report the construction and analysis of a whole-genome linkage map for the zebra finch (Taeniopygia guttata) using ...
Edwards Karen L - - 2008
In the United States, the metabolic syndrome (MetS) constitutes a major public health problem with over 47 million persons meeting clinical criteria for MetS. Numerous studies have suggested genetic susceptibility to MetS. The goals of this study were (i) to identify susceptibility loci for MetS in well-characterized families with type ...
Flaquer Antonia - - 2008
Two intervals of sequence identity at the tips of X and Y chromosomes, the human pseudoautosomal regions PAR1 and PAR2, have drawn interest from researchers in human genetics, cytogenetics, and evolutionary biology. However, they have been widely ignored in linkage and association studies. The pseudoautosomal regions (PARs) pair and recombine ...
Wassink Thomas H TH Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. - - 2008
To apply phenotypic and statistical methods designed to account for heterogeneity to linkage analyses of the autism Collaborative Linkage Study of Autism (CLSA) affected sibling pair families. The CLSA contains two sets of 57 families each; Set 1 has been analyzed previously, whereas this study presents the first analyses of ...
McClelland E K - - 2008
Construction of genetic linkage maps is an important first step for a variety of genomic applications, such as selective breeding in aquaculture, comparative studies of chromosomal evolution and identification of loci that have played key roles in the evolution of a species. Here we present a sex-specific linkage map for ...
Ruigrok Ynte M - - 2008
BACKGROUND AND PURPOSE: Approximately 2% of the general population harbor intracranial aneurysms. The prognosis after rupture of an intracranial aneurysm is poor; 50% of the patients die as a result of the rupture. Familial occurrence of intracranial aneurysms suggests there are genetic factors involved in the development of such aneurysms. ...
Hillmer Axel M - - 2008
Androgenetic alopecia (AGA, male pattern baldness) is the most common form of hair loss. The origin of AGA is genetic, with the X chromosome located androgen receptor gene (AR) being the only risk gene identified to date. We present the results of a genome-wide linkage study of 95 families and ...
Li Ming D - - 2008
Tobacco smoking is a severe health hazard worldwide, as nearly one-third of the global adult population smokes tobacco products. This high prevalence highlights the importance of studying the genetic determinants of nicotine dependence (ND). To identify such genetic factors, more than 20 genome-wide linkage studies have been conducted across different ...
Tapper William - - 2008
OBJECTIVE: A number of linkage disequilibrium (LD)-based methods have been developed to describe recombination and infer hotspots. We determine the correspondence between LDMAP and LDhat, and between LDMAP and LDhot by comparison with linkage maps and hotspots that have been verified by sperm typing. METHODS: Regression and variance analyses were ...
Martin E R - - 2008
The transmission/disequilibrium test (TDT) [Spielman et al.: Am J Hum Genet 1993;52:506-516] has been postulated as the future of gene mapping for complex diseases, provided one is able to genotype a dense enough map of markers across the genome. Risch and Merikangas [Science 1996;273:1516-1517] suggested a million-marker screen in affected ...
Thompson E A - - 2008
In this note, we present the continuous-time Markov rate matrix that models identity by descent (ibd) patterns among four chromosomes in a population. The equilibrium distribution of this Markov process along a chromosome is the set of 4-gene state probabilities given by the Ewens sampling formula. This model will facilitate ...
Li Bingshan - - 2008
Missing genotype data can increase false-positive evidence for linkage when either parametric or nonparametric analysis is carried out ignoring intermarker linkage disequilibrium (LD). Previously it was demonstrated by Huang et al. [1] that no bias occurs in this situation for affected sib-pairs with unrelated parents when either both parents are ...
Biros Erik E Vascular Biology Unit, Department of Surgery, School of Medicine, James Cook University, Townsville, 4811 QLD, - - 2008
Genetic predisposition likely plays an important role in the development of intracranial aneurysms. We carried out a genome search meta-analysis to identified loci associated with intracranial aneurysm. We identified previous whole-genome linkage analyses by searching PUBMED. Five studies reported by separate investigators where detailed data could be obtained were included ...
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