当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > On the probabilities of identity states in permutable populations.

On the probabilities of identity states in permutable populations.

Abstract：

:Génin and Clerget-Darpoux recently discussed the derivation of the probabilities of identity states for populations in which there was some degree of kinship, primarily to allow the extension of the classical affected-sib-pair method to such populations. It is argued here that their derivation makes certain assumptions that are valid only for some very restricted population models and that are not needed for an appropriate treatment. Here the probabilities of the identity states of two individuals with a given genealogical relationship are specified in terms of the kinship parameters of the underlying population, from which the founders of the individuals' genealogy have been randomly selected. It is argued that an appropriate representation for a permutable population, one in which gene identity does not depend on the pattern of genes across individuals, requires three parameters. This representation is related to that of Génin and Clerget-Darpoux and to that of Weir.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Cannings C

doi

10.1086/301743

subject

Has Abstract

pub_date

1998-03-01 00:00:00

pages

698-702

issue

3

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)63849-X

journal_volume

62

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Calpainopathy-a survey of mutations and polymorphisms.

    abstract：:Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives from defects in the human CAPN3 gene, which encodes the skeletal muscle-specific member of the calpain family. This report represents a c...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302426

    authors： Richard I,Roudaut C,Saenz A,Pogue R,Grimbergen JE,Anderson LV,Beley C,Cobo AM,de Diego C,Eymard B,Gallano P,Ginjaar HB,Lasa A,Pollitt C,Topaloglu H,Urtizberea JA,de Visser M,van der Kooi A,Bushby K,Bakker E,Lopez

    更新日期：1999-06-01 00:00:00

  • Combination of silver and fluorescent staining for metaphase chromosomes.

    abstract：:A convenient and reliable method for simulatneous visualization of silver staining (Ag-NOR) of the nucleolus organizers and fluorescent bandings in metaphase chromosomes is described. Studies employing this combined procedure on human chromosomes revealed that the Ag-NOR patterns may be characteristic for each chromos...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Lau YF,Pfeiffer RA,Arrighi FE,Hsu TC

    更新日期：1978-01-01 00:00:00

  • HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.

    abstract：:The heterogeneous nuclear ribonucleoprotein (HNRNP) genes code for a set of RNA-binding proteins that function primarily in the spliceosome C complex. Pathogenic variants in these genes can drive neurodegeneration, through a mechanism involving excessive stress-granule formation, or developmental defects, through mech...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.03.024

    authors： Duijkers FA,McDonald A,Janssens GE,Lezzerini M,Jongejan A,van Koningsbruggen S,Leeuwenburgh-Pronk WG,Wlodarski MW,Moutton S,Tran-Mau-Them F,Thauvin-Robinet C,Faivre L,Monaghan KG,Smol T,Boute-Benejean O,Ladda RL,Sell SL,

    更新日期：2019-06-06 00:00:00

  • Integrating GWASs and human protein interaction networks identifies a gene subnetwork underlying alcohol dependence.

    abstract：:Despite a significant genetic contribution to alcohol dependence (AD), few AD-risk genes have been identified to date. In the current study, we aimed to integrate genome-wide association studies (GWASs) and human protein interaction networks to investigate whether a subnetwork of genes whose protein products interact ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.10.021

    authors： Han S,Yang BZ,Kranzler HR,Liu X,Zhao H,Farrer LA,Boerwinkle E,Potash JB,Gelernter J

    更新日期：2013-12-05 00:00:00

  • Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12.

    abstract：:We have previously shown that rheumatoid arthritis (RA) risk alleles overlap between different ethnic groups. Here, we utilize a multiethnic approach to show that we can effectively discover RA risk alleles. Thirteen putatively associated SNPs that had not yet exceeded genome-wide significance (p < 5 × 10(-8)) in our ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.ajhg.2012.01.010

    authors： Kurreeman FA,Stahl EA,Okada Y,Liao K,Diogo D,Raychaudhuri S,Freudenberg J,Kochi Y,Patsopoulos NA,Gupta N,CLEAR investigators.,Sandor C,Bang SY,Lee HS,Padyukov L,Suzuki A,Siminovitch K,Worthington J,Gregersen PK,Hugh

    更新日期：2012-03-09 00:00:00

  • Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome 1p, and evidence for genetic heterogeneity.

    abstract：:Assignment of a susceptibility locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) to chromosome 1p remains controversial. We examined the relationship between CMM/DN and markers D1S47, PND, and D1S160 on seven new families (set B) plus updated versions of six previously reported families (set A). Three l...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Goldstein AM,Dracopoli NC,Ho EC,Fraser MC,Kearns KS,Bale SJ,McBride OW,Clark WH Jr,Tucker MA

    更新日期：1993-03-01 00:00:00

  • Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

    abstract：:Proteoglycans are a major component of extracellular matrix and contribute to normal embryonic and postnatal development by ensuring tissue stability and signaling functions. We studied five patients with recessive joint dislocations and congenital heart defects, including bicuspid aortic valve (BAV) and aortic root d...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.05.021

    authors： Baasanjav S,Al-Gazali L,Hashiguchi T,Mizumoto S,Fischer B,Horn D,Seelow D,Ali BR,Aziz SA,Langer R,Saleh AA,Becker C,Nürnberg G,Cantagrel V,Gleeson JG,Gomez D,Michel JB,Stricker S,Lindner TH,Nürnberg P,Sugahara K,

    更新日期：2011-07-15 00:00:00

  • Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.

    abstract：:A non-Jewish family is presented in which the genes for Tay-Sachs disease and Sandhoff disease are segregating. Individuals heterozygous for both alleles have low serum and white cell total hexosaminidase levels together with a proportion of heat-labile hexosaminidase A (HEX A) which falls in the normal range. The ind...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Lane AB,Young E,Jenkins T

    更新日期：1980-11-01 00:00:00

  • An evaluation of three statistics of structured exploratory data analysis.

    abstract：:The power of structured exploratory data analysis (SEDA) to discriminate among major genic, polygenic, and nongenetic determination of phenotypes was investigated using computer simulation. Three classes of SEDA indices (the major gene index, the offspring between parents function, and the midparent-child correlation ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kammerer CM,MacCluer JW,Bridges JM

    更新日期：1984-01-01 00:00:00

  • Disruption of neurexin 1 associated with autism spectrum disorder.

    abstract：:Autism is a neurodevelopmental disorder of complex etiology in which genetic factors play a major role. We have implicated the neurexin 1 (NRXN1) gene in two independent subjects who display an autism spectrum disorder (ASD) in association with a balanced chromosomal abnormality involving 2p16.3. In the first, with ka...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2007.09.011

    authors： Kim HG,Kishikawa S,Higgins AW,Seong IS,Donovan DJ,Shen Y,Lally E,Weiss LA,Najm J,Kutsche K,Descartes M,Holt L,Braddock S,Troxell R,Kaplan L,Volkmar F,Klin A,Tsatsanis K,Harris DJ,Noens I,Pauls DL,Daly MJ,MacDo

    更新日期：2008-01-01 00:00:00

  • Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27.

    abstract：:Linkage disequilibrium was observed between newly identified DNA polymorphisms and a previously described protein polymorphism for plasminogen. This finding implies that the two types of polymorphisms describe variation at the same locus. The plasminogen gene was mapped to chromosomal bands 6q26-q27 using somatic-cell...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Murray JC,Buetow KH,Donovan M,Hornung S,Motulsky AG,Disteche C,Dyer K,Swisshelm K,Anderson J,Giblett E

    更新日期：1987-04-01 00:00:00

  • Genetic and environmental explanations for the distribution of sodium-lithium countertransport in pedigrees from Rochester, MN.

    abstract：:An elevated level of erythrocyte sodium-lithium (Na-Li) countertransport has been suggested as a predictor of predisposition to essential hypertension. In order to evaluate whether a single genetic or environmental factor with large effects explains the mixture of distributions in Na-Li countertransport in the general...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Rebbeck TR,Turner ST,Michels VV,Moll PP

    更新日期：1991-06-01 00:00:00

  • Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

    abstract：:Ataxia-pancytopenia (AP) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia, sometimes associated with monosomy 7. Here, in the four-generation family UW-AP, linkage analysis revealed four regions that provided the maximal LOD scor...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.04.009

    authors： Chen DH,Below JE,Shimamura A,Keel SB,Matsushita M,Wolff J,Sul Y,Bonkowski E,Castella M,Taniguchi T,Nickerson D,Papayannopoulou T,Bird TD,Raskind WH

    更新日期：2016-06-02 00:00:00

  • Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.

    abstract：:An infant with delayed development and multiple congenital anomalies was found to possess a duplication of 14q23 leads to qter. This imbalance arose through segregation of a maternal 14/X translocation, observed in only 28% of the mother's cells. Although the X-chromosome-derived portion of the translocation was late ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Cohen MM,Charrow J,Balkin NE,Harris CJ

    更新日期：1983-07-01 00:00:00

  • The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

    abstract：:Nijmegen breakage syndrome (NBS; Seemanová II syndrome) and Berlin breakage syndrome (BBS), also known as ataxia-telangiectasia variants, are two clinically indistinguishable autosomal recessive familial cancer syndromes that share with ataxia-telangiectasia similar cellular, immunological, and chromosomal but not cli...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Saar K,Chrzanowska KH,Stumm M,Jung M,Nürnberg G,Wienker TF,Seemanová E,Wegner RD,Reis A,Sperling K

    更新日期：1997-03-01 00:00:00

  • Two-locus disease models with two marker loci: the power of affected-sib-pair tests.

    abstract：:Recently, Schork et al. found that two-trait-locus, two-marker-locus (parametric) linkage analysis can provide substantially more linkage information than can standard one-trait-locus, one-marker-locus methods. However, because of the increased burden of computation, Schork et al. do not expect that their approach wil...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Knapp M,Seuchter SA,Baur MP

    更新日期：1994-11-01 00:00:00

  • Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35.

    abstract：:The genetic locus for facioscapulohumeral muscular dystrophy (FSHD) has been mapped to chromosome 4. We have examined linkage to five chromosome 4q DNA markers in 22 multigenerational FSHD families. Multipoint linkage analyses of the segregation of four markers in the FSHD families and in 40 multigenerational mapping ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Weiffenbach B,Bagley R,Falls K,Hyser C,Storvick D,Jacobsen SJ,Schultz P,Mendell J,Willems van Dijk K,Milner EC

    更新日期：1992-08-01 00:00:00

  • AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.

    abstract：:In a female infant with dysmorphic features, severe neurological defects, and congenital blindness, a positive urinary Bratton-Marshall test led to identification of a massive excretion of 5-amino-4-imidazolecarboxamide (AICA)-riboside, the dephosphorylated counterpart of AICAR (also termed "ZMP"), an intermediate of ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/421475

    authors： Marie S,Heron B,Bitoun P,Timmerman T,Van Den Berghe G,Vincent MF

    更新日期：2004-06-01 00:00:00

  • Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples.

    abstract：:We conducted a genomewide linkage screen of a simple heavy-smoking quantitative trait, the maximum number of cigarettes smoked in a 24-h period, using two independent samples: 289 Australian and 155 Finnish nuclear multiplex families, all of which were of European ancestry and were targeted for DNA analysis by use of ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/513703

    authors： Saccone SF,Pergadia ML,Loukola A,Broms U,Montgomery GW,Wang JC,Agrawal A,Dick DM,Heath AC,Todorov AA,Maunu H,Heikkila K,Morley KI,Rice JP,Todd RD,Kaprio J,Peltonen L,Martin NG,Goate AM,Madden PA

    更新日期：2007-05-01 00:00:00

  • Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

    abstract：:DNA at the FMR-1 locus was analyzed by Southern blot using probe StB12.3 in an unusual fragile X family with six brothers, three of whom are affected with fragile X to varying degrees, two of whom are nonpenetrant carriers, and one of whom is unaffected. Fragile X chromosome studies, detailed physical examinations, an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： McConkie-Rosell A,Lachiewicz AM,Spiridigliozzi GA,Tarleton J,Schoenwald S,Phelan MC,Goonewardena P,Ding X,Brown WT

    更新日期：1993-10-01 00:00:00

  • TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

    abstract：:Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous group of diseases with aberrant protein glycosylation as a hallmark. A subgroup of CDGs can be attributed to disturbed Golgi homeostasis. However, identification of pathogenic variants is seriously complicated by the large num...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.12.011

    authors： Jansen JC,Timal S,van Scherpenzeel M,Michelakakis H,Vicogne D,Ashikov A,Moraitou M,Hoischen A,Huijben K,Steenbergen G,van den Boogert MA,Porta F,Calvo PL,Mavrikou M,Cenacchi G,van den Bogaart G,Salomon J,Holleboom AG,

    更新日期：2016-02-04 00:00:00

  • Jump from pre-mutation to pathologic expansion in C9orf72.

    abstract：:An expanded G4C2 repeat in C9orf72 represents the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). However, the lower limit for pathological expansions is unknown (the suggested cutoff is 30 repeats). It has been proposed that the expansion might have...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.04.016

    authors： Xi Z,van Blitterswijk M,Zhang M,McGoldrick P,McLean JR,Yunusova Y,Knock E,Moreno D,Sato C,McKeever PM,Schneider R,Keith J,Petrescu N,Fraser P,Tartaglia MC,Baker MC,Graff-Radford NR,Boylan KB,Dickson DW,Mackenzie IR

    更新日期：2015-06-04 00:00:00

  • The effect of methionine and 5-azacytidine on fragile X expression.

    abstract：:The cellular mechanism for the expression of the fragile site at Xq28 is unknown. We tested the effect of 5-azacytidine and methionine on fragile X expression in lymphocytes and lymphoblastoid cells in an attempt to determine if DNA methylation was involved. We were unable to demonstrate a consistent dosage effect of ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Abruzzo MA,Mayer M,Jacobs PA

    更新日期：1985-01-01 00:00:00

  • Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.

    abstract：:We have previously demonstrated genetic linkage between the type VII collagen gene (COL7A1) and the dominant (DDEB) and recessive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identified pathogenetic mutations in several families. Mutations in DDEB identified thus far are glycine substit...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Christiano AM,Anton-Lamprecht I,Amano S,Ebschner U,Burgeson RE,Uitto J

    更新日期：1996-04-01 00:00:00

  • Nondisjunction of chromosome 21: comparisons of cytogenetic and molecular studies of the meiotic stage and parent of origin.

    abstract：:In the present report, we summarize studies aimed at examining the reliability of chromosome heteromorphisms in analyses of chromosome 21 nondisjunction. We used two cytogenetic approaches--fluorescent in situ hybridization (FISH) to repetitive sequences on 21p and traditional Q-banding--to distinguish chromosome 21 h...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Lorber BJ,Grantham M,Peters J,Willard HF,Hassold TJ

    更新日期：1992-12-01 00:00:00

  • Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

    abstract：:Fibroblast growth factor homologous factors (FHFs) are intracellular proteins which regulate voltage-gated sodium (Nav) channels in the brain and other tissues. FHF dysfunction has been linked to neurological disorders including epilepsy. Here, we describe two sibling pairs and three unrelated males who presented in i...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.10.017

    authors： Fry AE,Marra C,Derrick AV,Pickrell WO,Higgins AT,Te Water Naude J,McClatchey MA,Davies SJ,Metcalfe KA,Tan HJ,Mohanraj R,Avula S,Williams D,Brady LI,Mesterman R,Tarnopolsky MA,Zhang Y,Yang Y,Wang X,Genomics England R

    更新日期：2021-01-07 00:00:00

  • Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

    abstract：:Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated with progressive myoclonic epilepsy (SMA-PME) has been reported as a rare autosomal-recessive con...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.05.001

    authors： Zhou J,Tawk M,Tiziano FD,Veillet J,Bayes M,Nolent F,Garcia V,Servidei S,Bertini E,Castro-Giner F,Renda Y,Carpentier S,Andrieu-Abadie N,Gut I,Levade T,Topaloglu H,Melki J

    更新日期：2012-07-13 00:00:00

  • Disentangling selection on genetically correlated polygenic traits via whole-genome genealogies.

    abstract：:We present a full-likelihood method to infer polygenic adaptation from DNA sequence variation and GWAS summary statistics to quantify recent transient directional selection acting on a complex trait. Through simulations of polygenic trait architecture evolution and GWASs, we show the method substantially improves powe...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.12.005

    authors： Stern AJ,Speidel L,Zaitlen NA,Nielsen R

    更新日期：2021-01-08 00:00:00

  • A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11.

    abstract：:Attention-deficit/hyperactivity disorder (ADHD [MIM 143465]) is a common, highly heritable neurobehavioral disorder of childhood onset, characterized by hyperactivity, impulsivity, and/or inattention. As part of an ongoing study of the genetic etiology of ADHD, we have performed a genomewide linkage scan in 204 nuclea...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/375139

    authors： Ogdie MN,Macphie IL,Minassian SL,Yang M,Fisher SE,Francks C,Cantor RM,McCracken JT,McGough JJ,Nelson SF,Monaco AP,Smalley SL

    更新日期：2003-05-01 00:00:00

  • The gene for May-Hegglin anomaly localizes to a

    abstract：:The May-Hegglin anomaly (MHA) is an autosomal dominant platelet disorder of unknown etiology. It is characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, and affected heterozygotes are predisposed to bleeding episodes. The MHA gene has recently been localized, by means of linkage analysis...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302873

    authors： Martignetti JA,Heath KE,Harris J,Bizzaro N,Savoia A,Balduini CL,Desnick RJ

    更新日期：2000-04-01 00:00:00