When the time seems ripe: eugenics, the annals, and the subtle persistence of typological thinking.

abstract：:In order to study the matrilineal genetic composition in Cabo Verde (Republic of Cape Verde), an archipelago that used to serve as a Portuguese entrepôt of the Atlantic slave trade, we have analysed a total of 292 mtDNAs sampled from the seven inhabited islands for the hypervariable segment I (HVS-I) and some characte...

journal_title：Annals of human genetics

authors： Brehm A,Pereira L,Bandelt HJ,Prata MJ,Amorim A

更新日期：2002-01-01 00:00:00

abstract：:The objectives of this study were to elucidate the genetic basis of human deoxyribonuclease II (DNase II) and to evaluate its usefulness as a genetic and/or diagnostic marker. We have devised a novel, specific and highly sensitive assay method for the urinary and leukocytic enzymes (Yasuda et al. 1991). The distributi...

journal_title：Annals of human genetics

authors： Yasuda T,Nadano D,Sawazaki K,Kishi K

更新日期：1992-01-01 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：:1. The use of SDS electrophoresis as a tool for the analysis of development processes in man has been evaluated. 2. The protein profiles of cardiac and skeletal muscle from foetal (10--24 weeks gestation) infant and adult specimens have been analysed and striking developmental changes were found which involved all the...

journal_title：Annals of human genetics

authors： Tipler TD,Edwards YH,Hopkinson DA

更新日期：1978-05-01 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：:CYP2C19, a member of the cytochrome P450 family, metabolises arachidonic acid to produce epoxyeicosanoid acids, which are involved in vascular tone and inflammation. Thus, this study describes the possible relationship between a CYP2C19 polymorphism (681G>A) and three inflammatory markers: interleukin (IL)-6, tumor ne...

journal_title：Annals of human genetics

authors： Bertrand-Thiébault C,Berrahmoune H,Thompson A,Marie B,Droesch S,Siest G,Foernzler D,Visvikis-Siest S

更新日期：2008-03-01 00:00:00

abstract：:Glycated hemoglobin (HbA1c) is used to classify glycaemia and type 2 diabetes (T2D). Body mass index (BMI) is a predictor of HbA1c levels and T2D. We tested 43 established BMI and obesity loci for association with HbA1c in a nationally representative multiethnic sample of young adults from the National Longitudinal St...

journal_title：Annals of human genetics

authors： Lange LA,Graff M,Lange EM,Young KL,Richardson AS,Mohlke KL,North KE,Harris KM,Gordon-Larsen P

更新日期：2016-09-01 00:00:00

abstract：:Male and female sibs born to third-cousin parents presented with mental retardation, microcephaly, short stature, juvenile onset limb-girdle muscular dystrophy and multiple chromosome mosaicism in lymphocytes and fibroblasts. Different aneuploidies (mostly trisomies) were found in 15-20% of the cells and trisomies for...

journal_title：Annals of human genetics

authors： Papi L,Montali E,Marconi G,Guazzelli R,Bigozzi U,Maraschio P,Zuffardi O

更新日期：1989-07-01 00:00:00

abstract：:The medieval history of several populations often suffers from scarcity of contemporary records resulting in contradictory and sometimes biased interpretations by historians. This is the situation with the population of the island of Crete, which remained relatively undisturbed until the Middle Ages when multiple wars...

journal_title：Annals of human genetics

authors： Drineas P,Tsetsos F,Plantinga A,Lazaridis I,Yannaki E,Razou A,Kanaki K,Michalodimitrakis M,Perez-Jimenez F,De Silvestro G,Renda MC,Stamatoyannopoulos JA,Kidd KK,Browning BL,Paschou P,Stamatoyannopoulos G

更新日期：2019-11-01 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

authors： Chase DS,Morris AH,Ballabio A,Pepper S,Giannelli F,Adinolfi M

更新日期：1986-10-01 00:00:00

abstract：:Animal studies have shown that the peroxime proliferator-activated receptor delta (PPARD) gene regulates glucose metabolism and insulin sensitivity. Genetic variation in the PPARD gene might affect physical endurance and has been associated with obesity. We investigated the independent and modifying effect of variants...

journal_title：Annals of human genetics

authors： Villegas R,Williams S,Gao Y,Cai Q,Li H,Elasy T,Cai H,Edwards T,Xiang YB,Zheng W,Long J,Ou Shu X

更新日期：2011-09-01 00:00:00

abstract：:Mitochondrial DNA variability in the Polish Roma population has been studied by means of hypervariable segment I and II (HVS I and II) sequencing and restriction fragment-length polymorphism analysis of the mtDNA coding region. The mtDNA haplotypes detected in the Polish Roma fall into the common Eurasian mitochondria...

journal_title：Annals of human genetics

authors： Malyarchuk BA,Grzybowski T,Derenko MV,Czarny J,Miścicka-Sliwka D

更新日期：2006-03-01 00:00:00

abstract：:The original transmission disequilibrium test (TDT), was introduced to test for linkage between a marker and a disease-susceptibility locus (Spielman et al. 1993). Allison (1997) extended the TDT procedure to quantitative traits. Allison's test, however, is restrictive in that it requires family trios consisting of on...

journal_title：Annals of human genetics

authors： Xiong MM,Krushkal J,Boerwinkle E

更新日期：1998-09-01 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：: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：: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：: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：:Published data on the association between the methylenetetrahydrofolate reductase (MTHFR) gene A1298C (rs1801131) polymorphism and male infertility risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. In this meta-analysis, a total of seven case-control studies...

journal_title：Annals of human genetics

authors： Shen O,Liu R,Wu W,Yu L,Wang X

更新日期：2012-01-01 00:00:00

abstract：:For many complex diseases, study has suggested that the disease genes influence not only the occurrence of the disease, but also the age of onset. Current methods in linkage analysis are mainly concentrated on affected relative pairs or affected family members, and age of onset information is either ignored or is take...

journal_title：Annals of human genetics

authors： Li H,Huang J

更新日期：1998-07-01 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

authors： Zago MA,Tavella MH,Simões BP,Franco RF,Guerreiro JF,Santos SB

更新日期：1996-01-01 00:00:00

abstract：:Haplotype analysis is important for mapping traits. Recently, methods for estimating haplotype frequencies from genotypes of unrelated individuals based on the expectation-maximization (EM) algorithm have been developed. Our program estimates haplotype frequencies in the population and determines the posterior probabi...

journal_title：Annals of human genetics

authors： Kitamura Y,Moriguchi M,Kaneko H,Morisaki H,Morisaki T,Toyama K,Kamatani N

更新日期：2002-05-01 00:00:00

abstract：:Data on Turner Syndrome from four sources were analysed for possible associations with several aetiological factors. Two classes of liveborn propositae were included, those with a non-mosaic 45, X karyotype (XO) and those with an isochromosome of the long arm of the X (iso-X). The numbers were 288 and 84 respectively ...

journal_title：Annals of human genetics

authors： Carothers AD,Frackiewicz A,De Mey R,Collyer S,Polani PE,Osztovics M,Horváth K,Papp Z,May HM,Ferguson-Smith MA

更新日期：1980-05-01 00:00:00

abstract：:Cystic fibrosis is a common autosomal recessive disorder that primarily affects the epithelial cells in the intestine, respiratory system, pancreas, gall bladder and sweat glands. Over one thousand mutations have currently been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that are ...

journal_title：Annals of human genetics

authors： Rowntree RK,Harris A

更新日期：2003-09-01 00:00:00

abstract：:The Kell blood group locus (KEL) is tightly linked to the prolactin-inducible protein locus (PIP) with zeta = 9.12 at theta = 0.00 for combined paternal and maternal meioses. In view of the regional localization of PIP to 7q32-q36 (Myal et al. 1989a), a similar assignment for KEL is favoured. ...

journal_title：Annals of human genetics

authors： Zelinski T,Coghlan G,Myal Y,Shiu RP,Philipps S,White L,Lewis M

更新日期：1991-05-01 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：:To detect linkage between a trait and a marker, Morton (1955) proposed to calculate the lod score z(theta 1) at a given value theta 1 of the recombination fraction. If z(theta 1) reaches +3 then linkage is concluded. However, in practice, lod scores are calculated for different values of the recombination fraction bet...

journal_title：Annals of human genetics

authors： Génin E,Martinez M,Clerget-Darpoux F

更新日期：1995-01-01 00:00:00

abstract：:Measurements have been carried out on the gonads of 54 human foetuses, 29 males and 25 females. Crown-rump lengths ranged between 140 and 212 mm. The criteria used were fresh weight, total protein contents and total DNA contents. It was found that for any given crown-rump length class, the mean values of testes exceed...

journal_title：Annals of human genetics

authors： Mittwoch U

更新日期：1976-07-01 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：: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：:The current challenge in biomedical research is to detect genetic risk factors involved in common complex diseases. The power to detect their role is generally poor in populations that have been large for a long time. It has been suggested that the power may be increased by taking advantage of the specificity of found...

journal_title：Annals of human genetics

authors： Bourgain C,Genin E,Quesneville H,Clerget-Darpoux F

更新日期：2000-05-01 00:00:00