Case-parent triads: estimating single- and double-dose effects of fetal and maternal disease gene haplotypes.

abstract：:The large literature on family-based tests of association and/or linkage is reviewed, concentrating on the underlying principles and on recent methodological developments. We explain the distinction between testing for association and testing for linkage, and give our views on the circumstances in which each is the ap...

journal_title：Annals of human genetics

authors： Whittaker JC,Morris AP

更新日期：2001-09-01 00:00:00

abstract：:In case-control studies of complex disease genes, allele frequencies or allele positivities at candidate loci or markers are compared between cases and controls. Although 2 x 2 contingency tables based on allele frequency and allele positivity are generally used to perform simple statistical tests (e.g. a comparison o...

journal_title：Annals of human genetics

authors： Ohashi J,Yamamoto S,Tsuchiya N,Hatta Y,Komata T,Matsushita M,Tokunaga K

更新日期：2001-03-01 00:00:00

abstract：:Ancient diversity in Sub-Saharan Africa is known to have been re-modulated to a large extent by Bantu migrations in the sub-Sahel region, in two southwards waves of advance through both the west and east coasts. Haplotype matching performed for Y-STR haplotypes in several sub-Saharan populations, both inside and outsi...

journal_title：Annals of human genetics

authors： Pereira L,Gusmão L,Alves C,Amorim A,Prata MJ

更新日期：2002-11-01 00:00:00

abstract：:It is shown that in the equilibrium position with respect to the assortative mating process given by Fisher's (1918) model, the population is in linkage disequilibrium, contrary to a result given by Vetta (1975). ...

journal_title：Annals of human genetics

authors： Wilson SR

更新日期：1978-07-01 00:00:00

abstract：:We evaluated denaturing high pressure liquid chromatography (DHPLC) as a scanning method for mutation detection in TSC2, and compared it to conformation-sensitive gel electrophoresis (CSGE) and single-stranded conformation polymorphism analysis (SSCP). The first 20 exons of TSC2 were amplified from 84 TSC patients and...

journal_title：Annals of human genetics

authors： Choy YS,Dabora SL,Hall F,Ramesh V,Niida Y,Franz D,Kasprzyk-Obara J,Reeve MP,Kwiatkowski DJ

更新日期：1999-09-01 00:00:00

abstract：:In a Muslim Arab village, relatively isolated because of the preference of consanguineous marriages, we studied the fate of 12 mutations in 5 different genes. The study was based on carriers detected among relatives of affected patients and of carriers discovered in a random sample of 424 adults. Most of the mutations...

journal_title：Annals of human genetics

authors： Zlotogora J,Hujerat Y,Barges S,Shalev SA,Chakravarti A

更新日期：2007-03-01 00:00:00

abstract：:This paper proposes family based Hotelling's T(2) tests for high resolution linkage disequilibrium (LD) mapping or association studies of complex diseases. Assume that genotype data of multiple markers or haplotype blocks are available for a sample of nuclear families, in which some offspring are affected. Paired Hote...

journal_title：Annals of human genetics

authors： Fan R,Knapp M,Wjst M,Zhao C,Xiong M

更新日期：2005-03-01 00:00:00

abstract：:The marriages contracted between 1600 and 1850 in the parishes Vang and Slidre in the mountain valley of Valdres in Norway were investigated, using the information in the genealogical and local history of the parishes and in various public archives. The parishes functioned as a marriage isolate, in spite of regular co...

journal_title：Annals of human genetics

authors： Saugstad LF,Odegård O

更新日期：1977-05-01 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

authors： Nishiyama A,Takeshima Y,Zhang Z,Habara Y,Tran TH,Yagi M,Matsuo M

更新日期：2008-11-01 00:00:00

abstract：:Stress is a significant risk factor in the development of drug addictions and in addiction relapse susceptibility. This hypothesis-driven study was designed to determine if specific SNPs in genes related to stress response are associated with heroin and/or cocaine addiction in African Americans. The analysis included ...

journal_title：Annals of human genetics

authors： Levran O,Randesi M,Li Y,Rotrosen J,Ott J,Adelson M,Kreek MJ

更新日期：2014-07-01 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

authors： Ghaffari M,Tahmasebi Birgani M,Kariminejad R,Saberi A

更新日期：2018-11-01 00:00:00

abstract：:A simple selection model (fitness 1, w, w2 for AA, Aa, aa) is employed to change the gene frequency of one population to another. The genetic distance is then defined as d = -log w between the two populations. The distance is symmetrical with respect to the two populations. It is additive: d13 = d12 + d23. The samplin...

journal_title：Annals of human genetics

authors： Li CC

更新日期：1978-05-01 00:00:00

abstract：:Genome-wide association studies have separately identified four single nucleotide polymorphisms (SNPs) on chromosome 9p21 that confer susceptibility to coronary artery disease (CAD) and myocardial infarction (MI). This study presents the first analysis of these SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) i...

journal_title：Annals of human genetics

authors： Abdullah KG,Li L,Shen GQ,Hu Y,Yang Y,MacKinlay KG,Topol EJ,Wang QK

更新日期：2008-09-01 00:00:00

abstract：:Central congenital hypoventilation syndrome (CCHS) is an autonomous control disease producing hypoventilation, high PaCO(2), and low PaO(2) during quiet sleep. The main gene variants detected in CCHS are mutations in the PHOX2b gene in up to 97% of isolated cases. However, CCHS is sometimes associated with autonomic d...

journal_title：Annals of human genetics

authors： Serra A,Görgens H,Alhadad K,Fitze G,Schackert HK

更新日期：2010-07-01 00:00:00

abstract：:It is show that Wright's F-statistics can be defined as ratios of gene diversities of heterozygosities rather than as the correlations of uniting gametes. This definition is applicable irrespective of the number of alleles involved or whether there is selection or not. The relationship between F-statistics and Nei's g...

journal_title：Annals of human genetics

authors： Nei M

更新日期：1977-10-01 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

authors： Ma D,Salyakina D,Jaworski JM,Konidari I,Whitehead PL,Andersen AN,Hoffman JD,Slifer SH,Hedges DJ,Cukier HN,Griswold AJ,McCauley JL,Beecham GW,Wright HH,Abramson RK,Martin ER,Hussman JP,Gilbert JR,Cuccaro ML,Haines JL

更新日期：2009-05-01 00:00:00

abstract：:Population samples from Liguria, Piacenza and Pavia provinces, and North Lombardy are compared for surnames and HLA gene frequencies. The genetic structure inferred from the principal coordinate analysis of surname frequencies is different from that inferred from HLA gene frequencies. The latter may represent ancient ...

journal_title：Annals of human genetics

authors： Guglielmino CR,De Silvestri A,Rossi A,De Micheli V

更新日期：1998-05-01 00:00:00

abstract：:Details of placentation and zygosity are reported from a survey of 627 consecutive twin births at three hospitals in Northern Nigeria. Zygosity was determined by study of sex, red cell antigens (ABO, MNSs and Rh) and placental enzymes (PGM1, PGM2, PGM3 and Pep A). The proportion of DZ twins amongst the various ethnic ...

journal_title：Annals of human genetics

authors： Nylander PP,Corney G

更新日期：1977-01-01 00:00:00

abstract：:Previous analyses have provided evidence for one or more loci affecting body weight in the H19-IGF2-INS-TH region on chromosome 11p15. To identify the location of a possible causal locus or loci we applied association analysis by composite likelihood to a large cohort under the Malecot model for body weight. A random ...

journal_title：Annals of human genetics

authors： Zhang W,Maniatis N,Rodriguez S,Miller GJ,Day IN,Gaunt TR,Collins A,Morton NE

更新日期：2006-11-01 00:00:00

abstract：:This paper presents a marginal likelihood model for family-based data based upon the transmission of marker alleles from each heterozygous parent to his/her affected children. The proposed model, extending the maximum-likelihood-binomial (MLB) method and the disequilibrium maximum-likelihood-binomial (DMLB) method (Ab...

journal_title：Annals of human genetics

authors： Lo SH,Liu X,Shao Y

更新日期：2003-07-01 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

authors： Weiss KM,Lambert BW

更新日期：2011-05-01 00:00:00

abstract：:In a study based on 173 individuals drawn from three endogamous, co-resident communities in the province of Punjab, the Awan, Khattar and Rajpoot, an analysis of 10 autosomal single tandem repeats on chromosomes 13 and 15 revealed distinctive genetic profiles in each community. A total of 99 different alleles were det...

journal_title：Annals of human genetics

authors： Wang W,Sullivan SG,Ahmed S,Chandler D,Zhivotovsky LA,Bittles AH

更新日期：2000-01-01 00:00:00

abstract：:This palaeogenetic study focused on the analysis of a late prehispanic Argentinean group from the Humahuaca valley, with the main aim of reconstructing its (micro)evolutionary history. The Humahuaca valley, a natural passageway from the eastern plains to the highlands, was the living environment of Andean societies wh...

journal_title：Annals of human genetics

authors： Mendisco F,Keyser C,Seldes V,Rivolta C,Mercolli P,Cruz P,Nielsen AE,Crubezy E,Ludes B

更新日期：2014-09-01 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

authors： Papadopoulos VP,Giaglis S,Mitroulis I,Ritis K

更新日期：2008-11-01 00:00:00

abstract：:Uterine fibroids (UFs) are the most common benign neoplasms, but their pathogenesis is not completely understood. Thus far, alterations in the mitochondrial DNA (mtDNA) content and the mtDNA 4977-bp deletion level in UFs, as well as the corresponding nontumorous tissue, have remained elusive. To test whether large mtD...

journal_title：Annals of human genetics

authors： Luo Y,Zou Y,Wu J,Zhang ZY,Liu FY,Li LP,Huang OP

更新日期：2019-07-01 00:00:00

abstract：:An immunological method for the detection of two thyroxine-binding plasma proteins, thyroxine-binding globulin (TBG) and thyroxine-binding prealbumin (TBPA), following polyacrylamide gel isoelectric focusing is described. Both proteins show complex electrophoretic patterns, attributable to post-translational glycosyla...

journal_title：Annals of human genetics

authors： Whitehouse DB,Hopkinson DA,Hill AV,Bowden DK

更新日期：1985-10-01 00:00:00

abstract：:Decreased function of the melanocortin-4 receptor (MC4R) was reported to cause late-onset obesity and insulin resistance in rodents. Thus mutations in the MC4R gene drew strong attention as a possible cause of obesity and diabetes. We screened for mutations in the MC4R gene in extremely obese [body mass index (BMI) > ...

journal_title：Annals of human genetics

authors： Ohshiro Y,Sanke T,Ueda K,Shimajiri Y,Nakagawa T,Tsunoda K,Nishi M,Sasaki H,Takasu N,Nanjo K

更新日期：1999-11-01 00:00:00

abstract：:We describe a novel method for analysis of marker genotype data from admixed populations, based on a hybrid of Bayesian and frequentist approaches in which the posterior distribution is generated by Markov chain simulation and score tests are obtained from the missing-data likelihood. We analysed data on unrelated ind...

journal_title：Annals of human genetics

authors： McKeigue PM,Carpenter JR,Parra EJ,Shriver MD

更新日期：2000-03-01 00:00:00

abstract：:The routine performance of high-altitude (HA) natives in the hypoxic environment of HA exemplifies the process of adaptation mainly through natural selection. The recent therapeutic application of nitric oxide (NO) in HA disorders, for the improvement of oxygenation and vasodilation, ushered us to investigate the endo...

journal_title：Annals of human genetics

authors： Ahsan A,Norboo T,Baig MA,Qadar Pasha MA

更新日期：2005-05-01 00:00:00

abstract：:Inbreeding patterns over the past two centuries have been studied more extensively in Spain and Italy than anywhere else in Europe. Consanguinity studies in mainland Spain have shown that populations settled along the Cantabrian cornice share inbreeding patterns that distinguish them from other populations further sou...

journal_title：Annals of human genetics

authors： Calderón R,Aresti U,Ambrosio B,González-Martín A

更新日期：2009-03-01 00:00:00