Racial heterogeneity of DNA polymorphisms linked to the A and the O alleles of the ABO blood group gene.

abstract：:Archaeological, anthropological and pathological data suggest that thirteen skeletons found in a house at the Pompeii archaeological site, dated to 79 A.D., belong to one family. To verify this and to identify the relationships between these individuals, we analyzed DNA extracted from bone specimens. Specifically, hyp...

journal_title：Annals of human genetics

authors： Di Bernardo G,Del Gaudio S,Galderisi U,Cascino A,Cipollaro M

更新日期：2009-07-01 00:00:00

abstract：:Case-control studies are a powerful strategy to identify candidate genes in complex diseases. In admixed populations, association studies can be affected by population stratification, leading to spurious genetic associations. Ancestry informative markers (AIMs) can be used to minimise this effect. The aim of this work...

journal_title：Annals of human genetics

authors： Barbosa FB,Cagnin NF,Simioni M,Farias AA,Torres FR,Molck MC,Araujo TK,Gil-Da-Silva-Lopes VL,Donadi EA,Simões AL

更新日期：2017-11-01 00:00:00

abstract：:The Samaritan community is a small, isolated, and highly endogamous group numbering some 650 members who have maintained extensive genealogical records for the past 13-15 generations. We performed mutation detection experiments on mitochondrial DNAs and Y chromosomes from confirmed maternal and paternal lineages to es...

journal_title：Annals of human genetics

authors： Bonné-Tamir B,Korostishevsky M,Redd AJ,Pel-Or Y,Kaplan ME,Hammer MF

更新日期：2003-03-01 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：:Nitric oxide is an important antiatherosclerotic agent. The main determinant of nitric oxide levels is enzyme nitric oxide synthase encoded by the NOS3 gene, the common variants in this gene may be responsible for variations in plasma enzyme levels. The association of NOS3 variants with coronary artery disease (CAD) v...

journal_title：Annals of human genetics

authors： Shahid SU,Shabana.,Rehman A

更新日期：2017-07-01 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：:Research suggests pulse pressure (PP) is a predictor of cardiovascular disease, and genes likely influence PP levels. Additionally, gender may be an effect modifier between PP and cardiovascular disease. This study addresses whether two renin-angiotensin-aldosterone system (RAAS) variants are associated with PP in a s...

journal_title：Annals of human genetics

authors： Lynch AI,Arnett DK,Davis BR,Boerwinkle E,Ford CE,Eckfeldt JH,Leiendecker-Foster C

更新日期：2007-11-01 00:00:00

abstract：:Heterogeneity of the recombination fraction may or may not involve a mixture of two groups of elements. For the mixture situation (families with or without linkage between two gene loci), Morton's homogeneity test is compared with another test (Admixture test) with respect to significance level, power, parameter estim...

journal_title：Annals of human genetics

authors： Ott J

更新日期：1983-10-01 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：: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：: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：: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：: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

authors： Lin S,Thompson E,Wijsman E

更新日期：1994-10-01 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：:Birth weight, placental weight and gestation time of 26258 single births at Ramathibodi Hospital during 1973-7 were studied in relation to natural selection by fitting quadratic function to natural log of survivors-to-nonsurvivors ratios. The survival criterion was 7 days after delivery. The estimated optimal values o...

journal_title：Annals of human genetics

authors： Promboon S,Mi MP,Chaturachinda K

更新日期：1983-05-01 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

authors： Vermeulen SH,Den Heijer M,Sham P,Knight J

更新日期：2007-09-01 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

authors： Züchner S,Gilbert JR,Martin ER,Leon-Guerrero CR,Xu PT,Browning C,Bronson PG,Whitehead P,Schmechel DE,Haines JL,Pericak-Vance MA

更新日期：2008-11-01 00:00:00

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 f...

journal_title：Annals of human genetics

authors： Klein C,Vieregge P,Hagenah J,Sieberer M,Doyle E,Jacobs H,Gasser T,Breakefield XO,Risch NJ,Ozelius LJ

更新日期：1999-07-01 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：:Information on family history and age of onset of breast cancer is examined in an attempt to distinguish between postulated early and late onset forms of breast cancer and to estimate the familial correlation between any subforms that may exist. Data are taken from the Cancer and Steroid Hormone Study, a multicentre, ...

journal_title：Annals of human genetics

authors： Claus EB,Risch NJ,Thompson WD

更新日期：1990-05-01 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

authors： Faruq M,Magaña JJ,Suroliya V,Narang A,Murillo-Melo NM,Hernández-Hernández O,Srivastava AK,Mukerji M

更新日期：2017-09-01 00:00:00

abstract：:Using in situ hybridization, c-erbA1 has been mapped immediately distal to the translocation breakpoint on chromosome 17 in fibroblasts with a karyotype 46,XX, t(15;17)(q22;q11). Previous work has shown that c-erbA1 is proximal to the translocation breakpoint on chromosome 17 in the t(15;17)(q22;q12-21) in acute promy...

journal_title：Annals of human genetics

authors： Sheer D,Sheppard DM,le Beau M,Rowley JD,San Roman C,Solomon E

更新日期：1985-07-01 00:00:00

abstract：:The genomic DNA-probe L2.30 was used to assign D2S1 to 2p23-pter by in situ hybridization. The RFLP revealed by BglII was then used for linkage studies in the Oslo-NHIK families segregating for the acid phosphatase ACP1 protein polymorphism. Evidence for very close linkage was found by a lod score of +17.17 at recombi...

journal_title：Annals of human genetics

authors： Lothe RA,Gedde-Dahl T,Olaisen B,Bakker E,Pearson P

更新日期：1986-10-01 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

authors： Wilson DE,Povey S,Harris H

更新日期：1976-01-01 00:00:00

abstract：:Variants in the ATL1 gene have been repeatedly described as the second most frequent cause of hereditary spastic paraplegia (HSP), a motor neuron disease manifested by progressive lower limb spasticity and weakness. Variants in ATL1 have been described mainly in patients with early onset HSP. We performed Sanger seque...

journal_title：Annals of human genetics

authors： Mészárosová AU,Grečmalová D,Brázdilová M,Dvořáčková N,Kalina Z,Čermáková M,Vávrová D,Smetanová I,Staněk D,Seeman P

更新日期：2017-11-01 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：:A crucial step beyond the identification of genetic linkage of a disease to a chromosomal region is the production of a physical map that will allow the identification of candidate genes. Although the process of physical map building has been facilitated by the flow of data released by the Human Genome Project, gather...

journal_title：Annals of human genetics

authors： Le Hellard S,Semple CA,Morris SW,Porteous DJ,Evans KL

更新日期：2001-05-01 00:00:00

abstract：:Epidemiological evidence on gene-environment effects of the G-protein beta-3 subunit C825T polymorphisms and sodium on blood pressure in the free-living general population is limited. We examined the associations between the C825T polymorphism and blood pressure levels, stratified by the sodium variables estimated by ...

journal_title：Annals of human genetics

authors： Yamagishi K,Tanigawa T,Cui R,Tabata M,Ikeda A,Yao M,Shimamoto T,Iso H

更新日期：2006-11-01 00:00:00

abstract：:Here we report on a male infant presenting the typical pattern of Jacobsen syndrome including trigonocephaly, thrombocytopenia, congenital heart defect, urethral stenosis, and partial agenesis of the corpus callosum. Conventional karyotyping, FISH, SKY and CGH analyses showed that the region distal to the MLL locus on...

journal_title：Annals of human genetics

authors： Gadzicki D,Baumer A,Wey E,Happel CM,Rudolph C,Tönnies H,Neitzel H,Steinemann D,Welte K,Klein C,Schlegelberger B

更新日期：2006-11-01 00:00:00

abstract：:A highly informative dinucleotide repeat polymorphism has been identified at the D11S614 locus on chromosome 11q23. Ten different alleles have been observed at this locus, and the heterozygosity frequency is approximately 85%. Physical localization of this marker in a panel of somatic cell hybrids containing chromosom...

journal_title：Annals of human genetics

authors： Benham F,Sugiyama R,Hunt D,Gillett G,Smith M

更新日期：1993-10-01 00:00:00