Abstract:
:A founder haplotype on chromosome 2p for autosomal dominant Parkinson's disease (PD) has been postulated for two families of Northern European descent, and a new mutation in the alpha-synuclein gene (Ala30Pro) has been found in a German PD family. We evaluated 85 German PD patients and 85 ethnically matched controls for shared markers on chromosome 2p and for the new alpha-synuclein mutation. We found no evidence for linkage disequilibrium, suggesting that the putative founder mutation on chromosome 2p is not a common cause of PD in the local population. Furthermore, no patient carried the Ala30Pro change, supporting earlier findings that mutations in the alpha-synuclein gene are extremely rare.
journal_name
Ann Hum Genetjournal_title
Annals of human geneticsauthors
Klein C,Vieregge P,Hagenah J,Sieberer M,Doyle E,Jacobs H,Gasser T,Breakefield XO,Risch NJ,Ozelius LJdoi
10.1046/j.1469-1809.1999.6340285.xsubject
Has Abstractpub_date
1999-07-01 00:00:00pages
285-91issue
Pt 4eissn
0003-4800issn
1469-1809journal_volume
63pub_type
杂志文章abstract::It has been suggested that an X-linked dominant allele operates in the genetic transmission of bipolar (manic-depressive) illness. Linkage studies with X-chromosome markers have remained inconclusive, showing both positive and negative results. Some of the ambiguity may be attributed to imprecise analytic methods and ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1982.tb00706.x
更新日期:1982-05-01 00:00:00
abstract::The author proposes a method to test the genetic relation between two individuals using a panel of SNPs. The method does not require information about the allele frequencies, and as such it can be used to test any pair of individuals from any population(s). ...
journal_title:Annals of human genetics
pub_type: 杂志文章
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abstract::Exact probability and likelihood computation on complex pedigrees is often infeasible, since exact methods are too computationally intensive even with today's computing technology. A statistical tool, Markov chain Monte Carlo (MCMC), is increasingly being explored as a technique for estimating probabilities of genotyp...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1994.tb00731.x
更新日期:1994-10-01 00:00:00
abstract::We have investigated 31 families segregation for Hunter Syndrome in order to advance our understanding of the genetics of this disease. The hair root test for the diagnosis of carriers of Hunter Syndrome was improved by the adoption of a new diagnostic index that distinguishes between carrier and normal females better...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1986.tb01756.x
更新日期:1986-10-01 00:00:00
abstract::Except for subgroup A2 and minor A, O and B alleles (Ax, O2 and B(A)), which occur at low frequencies in the population, the major ABO alleles are considered to be homogeneous entities. The present study is the first demonstration of an extensive variability linked to the more common alleles of the blood A and O genes...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1996.tb01173.x
更新日期:1996-01-01 00:00:00
abstract::The lysosomal storage disorder glycogenosis type II, caused by a deficiency of lysosomal alpha-glucosidase, is very heterogeneous in its clinical presentation. It has been suggested that this heterogeneity may be due to differential expression of neutral alpha-glucosidases. We have therefore analysed the activity of t...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1989.tb01783.x
更新日期:1989-05-01 00:00:00
abstract::The objective of this study was to evaluate whether an increased hazard of developing ischemic heart disease (IHD) is associated with any of the three genotypes A560T832/A560T832, A560T832/A560G832 and A560T832/T560T832, defined by variations in two non-coding SNPs in the 5' promoter region of the apolipoprotein E (AP...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2007.00370.x
更新日期:2007-11-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12054
更新日期:2014-03-01 00:00:00
abstract::The robust sib-pair method introduced by Haseman & Elston (1972) is one of the most widely circulated allele-sharing methods for linkage analysis. The procedure evaluates linkage by significance testing of a regression coefficient and, hence, a standard t-test has traditionally been applied despite known violations of...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.1997.6110077.x
更新日期:1997-01-01 00:00:00
abstract::Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect of diverse ATXN7 cis-element in correlation with CAG expansion mutation of SCA7. We initially performed an analysis to identify the ha...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12200
更新日期:2017-09-01 00:00:00
abstract::There is a need for interdisciplinary assessments and interpretations of -omics underpinnings of human complex diseases. However, often investigators from different, yet overlapping, disciplines experience difficulties in understanding the other discipline's language and there is a clear need for establishing a platfo...
journal_title:Annals of human genetics
pub_type:
doi:10.1111/j.1469-1809.2011.00659.x
更新日期:2011-07-01 00:00:00
abstract::Case-parent triad data are considered a robust basis for studying association between variants of a gene and a disease. Methods evaluating statistical significance of association, like the TDT-test and its extensions, are frequently used. When there are prior hypotheses of a causal effect of the gene under study, howe...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1529-8817.2005.00218.x
更新日期:2006-05-01 00:00:00
abstract:INTRODUCTION:Currently, next-generation sequencing (NGS) technology is more accessible and available to detect the genetic causation of diseases. Though NGS technology benefited some clinical phenotypes, for some clinical diagnoses such as seizures and epileptic disorders, adaptation occurred slowly. The genetic diagno...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12397
更新日期:2020-11-01 00:00:00
abstract::The tissue distribution of the adenylate kinase isozymes in man has been examined using various substrates. The isozymes attributable to the AK1 and AK2 loci were identified, and an additional set of isozymes probably attributable to a third locus was also found. This locus has been provisionally designated AK3. The A...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1976.tb00134.x
更新日期:1976-01-01 00:00:00
abstract::The problem of ordering and mapping genes on the basis of recombinant data and radiation hybrid data is formulated as a problem of Bayesian inference for an unknown permutation. The challenging computational problems posed by this approach are shown to be resolvable using Markov chain Monte Carlo methods. ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1993.tb00887.x
更新日期:1993-01-01 00:00:00
abstract::Our aim was to construct a Familial Mediterranean Fever (FMF) cumulative database and to propose a MEFV based phylogenetic tree. Data were collected from published studies. A meta-analysis based on 16,756 chromosomes from FMF patients and normal individuals from 14 affected populations was performed. Arlequin 2.0 and ...
journal_title:Annals of human genetics
pub_type: 杂志文章,meta分析
doi:10.1111/j.1469-1809.2008.00471.x
更新日期:2008-11-01 00:00:00
abstract::Polymorphisms of the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been reported to be potentially associated with the risks of developing frontotemporal lobar degeneration (FTLD), with inconsistent conclusions. This study aims to comprehensively investigate the potential role of TREM2 variants in...
journal_title:Annals of human genetics
pub_type: 杂志文章,meta分析
doi:10.1111/ahg.12241
更新日期:2018-07-01 00:00:00
abstract::Although autism is one of the most heritable neuropsychiatric disorders, its underlying genetic architecture has largely eluded description. To comprehensively examine the hypothesis that common variation is important in autism, we performed a genome-wide association study (GWAS) using a discovery dataset of 438 autis...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2009.00523.x
更新日期:2009-05-01 00:00:00
abstract::Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome with variable phenotypic features such as supravalvular aortic stenosis (SVAS), facial appearance characteristics, growth retardation, and infantile hypercalcemia. This study aimed to detect the 7q11.23 microdeletion in 10 patients with early clini...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12278
更新日期:2018-11-01 00:00:00
abstract::Klippel-Trenaunay syndrome (KTS) is a congenital vascular disorder comprised of capillary, venous and lymphatic malformations associated with overgrowth of the affected tissues. In this study, we report the identification of a de novo supernumerary ring chromosome in a patient with mild mental retardation, long taperi...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2004.00095.x
更新日期:2004-07-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12081
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abstract::Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD). We tested 303 unrelated Czech patients with early hearing loss (298 with NSHL and 5 with PS), all...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2010.00581.x
更新日期:2010-07-01 00:00:00
abstract::We have used the HLA-DQB1 gene as a Southern hybridization probe with TaqI-digested genomic DNA in a study of 600 haplotypes from unrelated individuals and have characterized HLA-DQB1 RFLP patterns associated with the DR specificities DR1-DRw10 and DN1. For six of the specificities (DR2, 4, w6, 7, w8 and 9), we have a...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1989.tb01802.x
更新日期:1989-10-01 00:00:00
abstract::Secondary alterations in splicing have been reported to produce semi-functional mRNA from several nonsense mutations in the dystrophin gene. Disruptions of exonic splicing enhancers by single nucleotide changes are thought to underlie such alterations. The precise frequencies of such nonsense mutation-dependent splici...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2008.00468.x
更新日期:2008-11-01 00:00:00
abstract::As knowledge of the human genome continues to grow, more progress is being made towards not only identifying the genes involved in disease susceptibility but also in defining the synergistic role genes play with environmental exposures. The detection of gene-environment interactions is important as it can offer clinic...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2003.00073.x
更新日期:2004-01-01 00:00:00
abstract::Traditional quantitative trait locus (QTL) analysis focuses on identifying loci associated with mean heterogeneity. Recent research has discovered loci associated with phenotype variance heterogeneity (vQTL), which is important in studying genetic association with complex traits, especially for identifying gene-gene a...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12089
更新日期:2015-01-01 00:00:00
abstract::Co-segregation studies based on a selection of intragenic restriction fragment length polymorphisms of the low density lipoprotein receptor (LDLR) gene have been used extensively both for research and diagnostic studies of familial hypercholesterolaemia (FH) families, because direct mutation screening remains complex....
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.1997.6160497.x
更新日期:1997-11-01 00:00:00
abstract::A chromosomal locus for late-onset Alzheimer disease (LOAD) has previously been mapped to 9p21.3. The most significant results were reported in a sample of autopsy-confirmed families. Linkage to this locus has been independently confirmed in AD families from a consanguineous Israeli-Arab community. In the present stud...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2008.00474.x
更新日期:2008-11-01 00:00:00
abstract::This journal began in 1925 as the Annals of Eugenics. Much has changed since then. The original Editors' primary eugenic objective was not achieved, and eugenics justifiably became notorious for racism and gross abuse of human rights. But one founding aim was to publish advances in statistical genetics, and that objec...
journal_title:Annals of human genetics
pub_type: 历史文章,杂志文章,评审
doi:10.1111/j.1469-1809.2010.00611.x
更新日期:2011-05-01 00:00:00
abstract::To identify interacting loci in genetic epidemiological studies the application of multi-locus methods of analysis is warranted. Several more advanced classification methods have been developed in the past years, including multiple logistic regression, sum statistics, logic regression, and the multifactor dimensionali...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2007.00360.x
更新日期:2007-09-01 00:00:00