Power of variance component linkage analysis-II. Discrete traits.

abstract：:Phosphoglycolate phosphatase (PGP) exhibits a wide range of activities in normal human red cells. Analysis of blood from 57 individuals of known PGP phenotype revealed no correlation between enzyme activity, electrophoretic phenotype or 2,3-DPG concentration. Neither was there evidence of variation in Km, heat stabili...

journal_title：Annals of human genetics

authors： Turner VS,Hopkinson DA

更新日期：1981-05-01 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 theory is given for complex phenotypes represented by an ordered polychotomy separately for affected (as severity) and for normals (as diathesis), with consideration of history, ascertainment, sampling frames, and phenotype systems. Nonrandom selection of probands by severity is permitted. Both probit and logistic m...

journal_title：Annals of human genetics

authors： Morton NE,Shields DC,Collins A

更新日期：1991-10-01 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：: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：: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

authors： Cao Y,Maxwell TJ,Wei P

更新日期：2015-01-01 00:00:00

abstract：:Two popular and robust approaches to analysing affected sib pair (ASP) data for linkage are the traditional excess sharing methods and the transmission/disequilibrium test (TDT). Here we derive an overall test of linkage for multi-allelic ASP marker data which comprises two component tests: one for excess sharing and ...

journal_title：Annals of human genetics

authors： Wicks J,Wilson SR

更新日期：2000-09-01 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：:This study traces the evolutionary pathways of the apolipoprotein B gene in the low risk Chinese and high risk Asian Indians in relation to coronary artery disease (CAD). Haplotypes were constructed from six apoB polymorphisms sp24/27, Ag(c/g), Ag(a1/d), XbaI, Ag(h/i) and, Ag(t/z). These were genotyped from 474 Chines...

journal_title：Annals of human genetics

authors： Heng CK,Saha N,Low PS

更新日期：1999-01-01 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：: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：: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：:Seven phage clones containing human sequences were picked at random from a human genomic library cloned in Charon 4A. The clones are devoid of repetitive sequences and can be used to recognize restriction fragment length polymorphisms (Feder et al. 1985). The chromosomal locations of the sequences defined by the seven...

journal_title：Annals of human genetics

authors： Spurr NK,Feder J,Bodmer WF,Goodfellow PN,Solomon E,Cavalli-Sforza LL

更新日期：1986-05-01 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

authors： Lake SL,Laird NM

更新日期：2004-01-01 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：:The segregation of the Q-band polymorphisms in 32 families have been studied. From 90 matings in these families, there were a total of 208 offspring. In one of these offspring it could be shown that there had been a change of a fluorescent polymorphism, resulting in the loss of fluorescent intensity in the satellite o...

journal_title：Annals of human genetics

authors： Robinson JA,Buckton KE,Evans HJ

更新日期：1978-01-01 00:00:00

abstract：:Hybrid clones (MOGs) were made between the mouse line RAG and a primary fibroblast line from an individual of the rare alphaGLU 2 phenotype. Fifteen independent primary clones and 32 subclones were tested for the presence of human alphaGLU after separation of the human and rodent enzymes by starch gel electrophoresis....

journal_title：Annals of human genetics

authors： Solomon E,Swallow D,Burgess S,Evans L

更新日期：1979-01-01 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：:The equilibrium position is determined for the phenotypic distribution o f a continuous characteristic in a population which reproduces both randomly and assortatively, and wherein generations are overlapping. It is shown that the major assortative mating models so far proposed for continuous traits are not particular...

journal_title：Annals of human genetics

authors： Wilson SR

更新日期：1978-01-01 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：: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：:Complex segregation analysis was conducted in a series of patients with hereditary non-polyposis colorectal cancer (HNPCC) ascertained through probands registered in the Cancer Registry of the Health Care District of Modena in Northern Italy. Altogether there were 71 nuclear families segregating for HNPCC in 28 pedigr...

journal_title：Annals of human genetics

authors： Scapoli C,Ponz De Leon M,Sassatelli R,Benatti P,Roncucci L,Collins A,Morton NE,Barrai I

更新日期：1994-07-01 00:00:00

abstract：:HLA typing was conducted on 577 family members of 86 families having at least two first-degree family members with a lifetime history of major depression or bipolar disorder. The results were combined with a follow-up study of 10 Newfoundland kindreds and with the data obtained from our previous studies, giving a tota...

journal_title：Annals of human genetics

authors： Stancer HC,Weitkamp LR,Persad E,Flood C,Jorna T,Guttormsen SA,Yagnow RL

更新日期：1988-10-01 00:00:00

abstract：:Peripheral blood from six patients with Huntington's disease (HD) and six controls were cultured in three types of media known to produce fragile sites. A total of 3000 metaphases per group were scrutinized in a blind coded study. No significantly specific 'hot-spot' was found capable of differentiating between HD pat...

journal_title：Annals of human genetics

authors： Beverstock GC,Mol A,Wienhofer E

更新日期：1985-10-01 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：: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：: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：: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：:1. Two methods have been devised for the detection after electrophoresis of gamma-aminobutyric acid transaminase (GABAT) isozymes. 2. GABAT isozymes can be detected in liver, brain, kidney, pancreas, heart, testis. spinal cord and upper jejunum. The greatest activity occurs in liver. 3. Three different commonly occurr...

journal_title：Annals of human genetics

authors： Jeremiah S,Povey S

更新日期：1981-07-01 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