Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification.

abstract：:Recently statements have been made about a special 'genetic homogeneity' of the Icelanders that are at variance with earlier work on blood groups and allozymes. To validate these claims an extensive reanalysis was undertaken of mtDNA variation by examining primary data from original sources on 26 European populations....

journal_title：Annals of human genetics

authors： Arnason E

更新日期：2003-01-01 00:00:00

abstract：:Variants in the UGT1A1 gene and its promoter are known to determine levels of unconjugated bilirubin (UCB), but do not explain all cases of unconjugated hyperbilirubinemia. To discover associations with variants in genes other than UGT1A1, we undertook a genome-wide association study. We recruited 200 participants to ...

journal_title：Annals of human genetics

authors： Datta S,Chowdhury A,Ghosh M,Das K,Jha P,Colah R,Mukerji M,Majumder PP

更新日期：2012-01-01 00:00:00

abstract：:The odour threshold bimodality for exaltolide described by Whissell-Buechy & Amoore (1973) among American whites is confirmed for a population sample in London. A highly correlated bimodality presumed to be caused by the absence of inactivity of certain receptor sites is shown to exist for another structurally differe...

journal_title：Annals of human genetics

authors： Kalmus H,Seedburgh D

更新日期：1975-05-01 00:00:00

abstract：:Selection of important genetic and environmental factors is of strong interest in quantitative trait analyses. In this study, we use parallel genetic algorithm (PGA) to identify genetic and environmental factors in genetic association studies of complex human diseases. Our method can take account of both multiple mark...

journal_title：Annals of human genetics

authors： Mukhopadhyay S,George V,Xu H

更新日期：2010-01-01 00:00:00

abstract：:Genome-wide association (GWA) studies have identified around 20 common genetic variants influencing the risk of type 2 diabetes (T2D). Likewise, a number of variants have been associated with diabetes-related quantitative glycaemic traits, but to date the overlap between these genes and variants has been low. The majo...

journal_title：Annals of human genetics

authors： Franklin CS,Aulchenko YS,Huffman JE,Vitart V,Hayward C,Polašek O,Knott S,Zgaga L,Zemunik T,Rudan I,Campbell H,Wright AF,Wild SH,Wilson JF

更新日期：2010-11-01 00:00:00

abstract：:Testing multiple markers simultaneously not only can capture the linkage disequilibrium patterns but also can decrease the number of tests and thus alleviate the multiple-testing penalty. If a gene is associated with a phenotype, subjects with similar genotypes in this gene should also have similar phenotypes. Based o...

journal_title：Annals of human genetics

authors： Lin WY,Tiwari HK,Gao G,Zhang K,Arcaroli JJ,Abraham E,Liu N

更新日期：2012-05-01 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

authors： Haddad L,Day LB,Attwood J,Povey S,Humphries SE,Day IN

更新日期：1997-11-01 00:00:00

abstract：:Analysis of the groups of a large sibship showed that the locus for the blood group LKE is not closely linked to the loci for MNS, Rh, HLA, Pi, Gm and C6 and is genetically independent of the loci for P1, K, Xg, Au, secretor, and C3. The locus for the Auberger (Au) blood group was shown to be genetically independent o...

journal_title：Annals of human genetics

authors： Whitehouse DB,Attwood J,Green C,Bruce M,McQuade M,Tippett P

更新日期：1988-07-01 00:00:00

abstract：:Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13...

journal_title：Annals of human genetics

authors： Tlili A,Masmoudi S,Dhouib H,Bouaziz S,Rebeh IB,Chouchen J,Turki K,Benzina Z,Charfedine I,Drira M,Ayadi H

更新日期：2007-03-01 00:00:00

abstract：:Multiple imputation based on chained equations (MICE) is an alternative missing genotype method that can use genetic and nongenetic auxiliary data to inform the imputation process. Previously, MICE was successfully tested on strongly linked genetic data. We have now tested it on data of the HBA2 gene which, by the exp...

journal_title：Annals of human genetics

authors： Sepúlveda N,Manjurano A,Drakeley C,Clark TG

更新日期：2014-07-01 00:00:00

abstract：:It is often assumed that Afrikaners stem from a small number of Dutch immigrants. As a result they should be genetically homogeneous, show founder effects and be rather inbred. By disentangling my own South African pedigree, that is on average 12 generations deep, I try to quantify the genetic heritage of an Afrikaner...

journal_title：Annals of human genetics

authors： Greeff JM

更新日期：2007-09-01 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：:The available simple mapping functions are surveyed, and a new mapping function that provides for positive interference within chromosome arms and no interference across the centromere is proposed, together with the corresponding formula for centromeric linkage. This new function is derived by assuming that all chromo...

journal_title：Annals of human genetics

authors： Sturt E

更新日期：1976-11-01 00:00:00

abstract：:Robertsonian translocation (RT) is a common cause for male infertility, recurrent pregnancy loss, and birth defects. Studying meiotic recombination in RT-carrier patients helps decipher the mechanism and improve the clinical management of infertility and birth defects caused by RT. Here we present a new method to stud...

journal_title：Annals of human genetics

authors： Sha Y,Sha Y,Ji Z,Ding L,Zhang Q,Ouyang H,Lin S,Wang X,Shao L,Shi C,Li P,Song Y

更新日期：2017-03-01 00:00:00

abstract：:Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of the paraoxonase 1 gene (PON1) showed differences in association with cardiovascular disease risk in various populations. To characterize the genetic variation underlying these important polymorphisms, we examined DNA sequence variation bo...

journal_title：Annals of human genetics

authors： Koda Y,Tachida H,Soejima M,Takenaka O,Kimura H

更新日期：2004-03-01 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

abstract：:For characterizing the genetic mechanisms of complex diseases familial data with multiple correlated quantitative traits are usually collected in genetic studies. To analyze such data, various multivariate tests have been proposed to investigate the association between the underlying disease genes and the multiple tra...

journal_title：Annals of human genetics

authors： Hsieh TJ,Chang SH,Tai JJ

更新日期：2014-03-01 00:00:00

abstract：:The use of IBD proportions from a large set of affected sib-pair data to estimate some or all of the main parameters describing the inheritance of a disease susceptibility gene is here considered. We assume there is no recombination present and neglect ascertainment bias, and assume that there are four distinct parent...

journal_title：Annals of human genetics

authors： Green JR,Shah S

更新日期：1996-03-01 00:00:00

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

authors： Pourová R,Janousek P,Jurovcík M,Dvoráková M,Malíková M,Rasková D,Bendová O,Leonardi E,Murgia A,Kabelka Z,Astl J,Seeman P

更新日期：2010-07-01 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：:Gene-gene interaction plays an important role in association studies for complex diseases. There have been different approaches to incorporating gene-gene interactions in candidate gene or genome-wide association studies, especially for those genes with no marginal effects but with interaction effects. However, there ...

journal_title：Annals of human genetics

authors： Yang Y,He C,Ott J

更新日期：2009-01-01 00:00:00

abstract：:In a landmark study Rosenberg et al. (2002) analyzed human genome diversity with 377 microsatellites in the HGDP-CEPH Genome Diversity Panel and reported that the populations were structured into five geographical regions: America, Sub-Saharan Africa, East Asia, Oceania and a cluster composed of Europe, the Middle Eas...

journal_title：Annals of human genetics

authors： Bastos-Rodrigues L,Pimenta JR,Pena SD

更新日期：2006-09-01 00:00:00

abstract：:In recent years, there have been an increasing number of genetic variants associated with athletic phenotypes. Here, we selected a set of sports-relevant polymorphisms that have been previously suggested as genetic markers for human physical performance, and we examined their association with athletic status in a larg...

journal_title：Annals of human genetics

authors： Guilherme JPLF,Bertuzzi R,Lima-Silva AE,Pereira ADC,Lancha Junior AH

更新日期：2018-09-01 00:00:00

abstract：:The human dopamine transporter (hDAT) participates in dopamine homeostasis by clearing dopamine from the extracellular space using secondary active transport. Dysregulation of hDAT has been reported to be associated with different neuropsychiatric disorders. Dopamine transporter deficiency syndrome (DTDS) is a complex...

journal_title：Annals of human genetics

authors： Heidari E,Razmara E,Hosseinpour S,Tavasoli AR,Garshasbi M

更新日期：2020-07-01 00:00:00

abstract：:Height and body mass index (BMI) have high heritability in most studies. High BMI and reduced height are well-recognized as important risk factors for a number of cardiovascular diseases. We investigated these phenotypes in African American families originally ascertained for studies of linkage with type 2 diabetes us...

journal_title：Annals of human genetics

authors： Sale MM,Freedman BI,Hicks PJ,Williams AH,Langefeld CD,Gallagher CJ,Bowden DW,Rich SS

更新日期：2005-09-01 00:00:00

abstract：:In order to describe the isonymic structure of Paraguay, the distribution of 4,843,868 surnames of 2,882,163 persons was studied in the 18 departments and 237 districts of the nation. The correlations between isonymic and geographic distances for departments were r = 0.713 ± 0.052 for Euclidean distance, 0.597 ± 0.074...

journal_title：Annals of human genetics

authors： Dipierri J,Rodriguez-Larralde A,Alfaro E,Scapoli C,Mamolini E,Salvatorelli G,Caramori G,De Lorenzi S,Sandri M,Carrieri A,Barrai I

更新日期：2011-11-01 00:00:00

abstract：:Allelic transmission rates from parents to cases are frequently stratified by an environmental risk factor E and compared, with heterogeneity interpreted as gene-environment interaction or GxE. Though generally invalid, such analyses continue to appear. We revisit why heterogeneity is not equivalent to GxE in a range ...

journal_title：Annals of human genetics

authors： Shin JH,McNeney B,Graham J

更新日期：2010-09-01 00:00:00

abstract：:Peutz-Jeghers' syndrome (PJS) is a disease with autosomal dominant inheritance, which is characterised by gastrointestinal hamartomata and characteristic melanin pigmentation. Three candidate sites for a PJS locus have recently been proposed, chromosomes 1p31-p32, 6q25 and 6p11-cen. At the first of these sites, a mult...

journal_title：Annals of human genetics

authors： Tomlinson IP,Olschwang S,Abelovitch D,Nakamura Y,Bodmer WF,Thomas G,Markie D

更新日期：1996-09-01 00:00:00

abstract：:Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene located on chromosome 9p21-p12. The gene encodes the natriuretic peptide rec...

journal_title：Annals of human genetics

authors： Irfanullah,Umair M,Khan S,Ahmad W

更新日期：2015-07-01 00:00:00

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