当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Linkage analysis in the presence of errors I: complex-valued recombination fractions and complex phenotypes.

Linkage analysis in the presence of errors I: complex-valued recombination fractions and complex phenotypes.

Abstract：

:Linkage is a phenomenon that correlates the genotypes of loci, rather than the phenotypes of one locus to the genotypes of another. It is therefore necessary to convert the observed trait phenotypes into trait-locus genotypes, which can then be analyzed for coinheritance with marker-locus genotypes. However, if the mode of inheritance of the trait is not known accurately, this conversion can often result in errors in the inferred trait-locus genotypes, which, in turn, can lead to the misclassification of the recombination status of meioses. As a result, the recombination fraction can be overestimated in two-point analysis, and false exclusions of the true trait locus can occur in multipoint analysis. We propose a method that increases the robustness of multipoint analysis to errors in the mode of inheritance assumptions of the trait, by explicitly allowing for misclassification of trait-locus genotypes. To this end, the definition of the recombination fraction is extended to the complex plane, as Theta=straight theta+straightepsiloni; theta is the recombination fraction between actual ("real") genotypes of marker and trait loci, and straightepsilon is the probability of apparent but false ("imaginary") recombinations between the actual and inferred trait-locus genotypes. "Complex" multipoint LOD scores are proven to be stochastically equivalent to conventional two-point LOD scores. The greater robustness to modeling errors normally associated with two-point analysis can thus be extended to multiple two-point analysis and multipoint analysis. The use of complex-valued recombination fractions also allows the stochastic equivalence of "model-based" and "model-free" methods to be extended to multipoint analysis.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Göring HH,Terwilliger JD

doi

10.1086/302797

subject

Has Abstract

pub_date

2000-03-01 00:00:00

pages

1095-106

issue

3

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)63617-9

journal_volume

66

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility.

    abstract：:Fertilization is a fundamental process of development and is a prerequisite for successful human reproduction. In mice, although several receptor proteins have been shown to play important roles in the process of fertilization, only three genes have been shown to cause fertilization failure and infertility when delete...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.02.015

    authors： Sang Q,Li B,Kuang Y,Wang X,Zhang Z,Chen B,Wu L,Lyu Q,Fu Y,Yan Z,Mao X,Xu Y,Mu J,Li Q,Jin L,He L,Wang L

    更新日期：2018-04-05 00:00:00

  • A method for the assessment of disease associations with single-nucleotide polymorphism haplotypes and environmental variables in case-control studies.

    abstract：:The rough draft of the human genome map has been used to identify most of the functional genes in the human genome, as well as to identify nucleotide variations, known as "single-nucleotide polymorphisms" (SNPs), in these genes. By use of advanced biotechnologies, researchers are beginning to genotype thousands of SNP...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/375140

    authors： Zhao LP,Li SS,Khalid N

    更新日期：2003-05-01 00:00:00

  • Pre-Caucasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisms.

    abstract：:About 70 individuals from Punjab were examined for some mtDNA polymorphisms, namely, the RFLPs of the six classical enzymes (HpaI, BamHI, HaeII, MspI, AvaII, and Hin-cII) and for the sites AluI(7,025), DdeI(10,394), and AluI(10,397). The AluI(7,025) polymorphic site was also investigated in 96 Indians from Uttar Prade...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Passarino G,Semino O,Bernini LF,Santachiara-Benerecetti AS

    更新日期：1996-10-01 00:00:00

  • A genomewide linkage scan for quantitative-trait loci for obesity phenotypes.

    abstract：:Obesity is an increasingly serious health problem in the world. Body mass index (BMI), percentage fat mass, and body fat mass are important indices of obesity. For a sample of pedigrees that contains >10,000 relative pairs (including 1,249 sib pairs) that are useful for linkage analyses, we performed a whole-genome li...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/339934

    authors： Deng HW,Deng H,Liu YJ,Liu YZ,Xu FH,Shen H,Conway T,Li JL,Huang QY,Davies KM,Recker RR

    更新日期：2002-05-01 00:00:00

  • MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population.

    abstract：:Hereditary nonpolyposis colorectal cancer (HNPCC) accounts for approximately 2% of all colorectal cancer (CRC) cases and is the most common hereditary CRC syndrome. We have previously reported a high incidence of microsatellite instability (MSI) and germline mismatch repair (MMR) gene mutations in young Hong Kong Chin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/383591

    authors： Chan TL,Chan YW,Ho JW,Chan C,Chan AS,Chan E,Lam PW,Tse CW,Lee KC,Lau CW,Gwi E,Leung SY,Yuen ST

    更新日期：2004-05-01 00:00:00

  • Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

    abstract：:Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. At least five complementation groups (FA-A-FA-E) have been identified. The relative prevalence of FA-A has been estimated at an average of approximate...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301632

    authors： Savino M,Ianzano L,Strippoli P,Ramenghi U,Arslanian A,Bagnara GP,Joenje H,Zelante L,Savoia A

    更新日期：1997-12-01 00:00:00

  • Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

    abstract：:The pheochromocytomas are an important cause of secondary hypertension. Although pheochromocytoma susceptibility may be associated with germline mutations in the tumor-suppressor genes VHL and NF1 and in the proto-oncogene RET, the genetic basis for most cases of nonsyndromic familial pheochromocytoma is unknown. Rece...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/321282

    authors： Astuti D,Latif F,Dallol A,Dahia PL,Douglas F,George E,Sköldberg F,Husebye ES,Eng C,Maher ER

    更新日期：2001-07-01 00:00:00

  • Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis.

    abstract：:A genetic analysis is presented of data from 22 Brazilian sibships with cases of acheiropodia (the handless and footless families of Brazil). Segregation analysis performed using a 16K CDC 3100 computer showed a segregation frequency of .245 +/- .040, which is close to the expected value of .25. No sporadic cases wer...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Freire-Maia A,Freire-Maia N,Morton NE,Azevêdo ES,Quelce-Salgado A

    更新日期：1975-07-01 00:00:00

  • Absence of the Asian-specific region V mitochondrial marker in Native Beringians.

    abstract：:The Asian-specific 9-bp deletion between the genes for mitochondrial cytochrome oxidase II and lysine transfer RNA has been used to trace aboriginal human movements out of Southeast Asia and into portions of the South Pacific. Although it has been used to estimate the number of independent lineages that occur in the N...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Shields GF,Hecker K,Voevoda MI,Reed JK

    更新日期：1992-04-01 00:00:00

  • New approach for isolation of VNTR markers.

    abstract：:Elsewhere we have reported an efficient method for isolating VNTR (Variable Number of Tandem Repeats) markers. Several of the VNTR markers isolated in those experiments were sequenced, and a DNA sequence of 9 bp (GNNGTGGG) emerged as an apparent consensus sequence for VNTR markers. To confirm this result and to develo...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Nakamura Y,Carlson M,Krapcho K,Kanamori M,White R

    更新日期：1988-12-01 00:00:00

  • Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.

    abstract：:The original family with the Allan-Herndon type of X-linked mental retardation has been investigated for linkage by using DNA probes spanning the length of the X chromosome. Available for study, over 3 generations, were 13 affected males, three obligate carriers, and three normal sons of the obligate carriers. Initial...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Schwartz CE,Ulmer J,Brown A,Pancoast I,Goodman HO,Stevenson RE

    更新日期：1990-09-01 00:00:00

  • Duplication of chromosome 10p: confirmation of regional assignments of platelet-type phosphofructokinase.

    abstract：:A proband, clinically thought to have trisomy 10p, was found to have an inverted duplication of 10p [46, XY, inv dup(10)(qter----p15.3::p15.3----p 11.1:)]. The phenotypic findings and cytogenetic observations were supported by relevant biochemical studies. The activity of phosphofructokinase (platelet-type; PFKP), pre...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Schwartz S,Cohen MM,Panny SR,Beisel JH,Vora S

    更新日期：1984-07-01 00:00:00

  • Linkage analysis of chromosome 17 markers in British and South African families with neurofibromatosis type I.

    abstract：:Nine markers from the pericentromeric region of chromosome 17 were typed in 16 British and five South African families with neurofibromatosis type 1 (NF1). The markers--p17H8, pHHH202, and EW204--were linked to NF1 at recombination fractions less than 1%. No evidence of locus heterogeneity was detected. Inspection of ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Mathew CG,Thorpe K,Easton DF,Chin KS,Jadayel D,Ponder M,Moore G,Wallis CE,Slater CP,De Jong G

    更新日期：1989-01-01 00:00:00

  • A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data: application to HLA in type 1 diabetes.

    abstract：:A stepwise logistic-regression procedure is proposed for evaluation of the relative importance of variants at different sites within a small genetic region. By fitting statistical models with main effects, rather than modeling the full haplotype effects, we generate tests, with few degrees of freedom, that are likely ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338007

    authors： Cordell HJ,Clayton DG

    更新日期：2002-01-01 00:00:00

  • Age correlation between mates and average consanguinity in age-structured human populations.

    abstract：:When population geneticists wish to determine the genetic consequences of some aspect of mating behavior, it is often necessary to compare observed levels of consanguinity to the level expected when mating is random with respect to the factor being studied. Expectations under random mating are often derived from discr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Leslie PW

    更新日期：1983-09-01 00:00:00

  • The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy.

    abstract：:The recent cloning of cDNA encoding the Ca++ release channel (ryanodine receptor) of human sarcoplasmic reticulum has enabled us to use somatic cell hybrids to localize the ryanodine receptor gene (RYR) to the proximal long arm of human chromosome 19. Studies with additional hybrids containing deletions or translocati...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： MacKenzie AE,Korneluk RG,Zorzato F,Fujii J,Phillips M,Iles D,Wieringa B,Leblond S,Bailly J,Willard HF

    更新日期：1990-06-01 00:00:00

  • Management of Secondary Genomic Findings.

    abstract：:Secondary genomic findings are increasingly being returned to individuals as opportunistic screening results. A secondary finding offers the chance to identify and mitigate disease that may otherwise be unrecognized in an individual. As a form of screening, secondary findings must be considered differently from sequen...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ajhg.2020.05.002

    authors： Katz AE,Nussbaum RL,Solomon BD,Rehm HL,Williams MS,Biesecker LG

    更新日期：2020-07-02 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

  • Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells.

    abstract：:Achieving long-term expression of a therapeutic gene in a given hematopoietic lineage remains an important goal of gene therapy. Congenital erythropoietic porphyria (CEP) is a severe autosomal-recessive disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosyn...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2007.09.007

    authors： Robert-Richard E,Moreau-Gaudry F,Lalanne M,Lamrissi-Garcia I,Cario-André M,Guyonnet-Dupérat V,Taine L,Ged C,de Verneuil H

    更新日期：2008-01-01 00:00:00

  • Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

    abstract：:Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for mul...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.05.005

    authors： Kim HG,Kim HT,Leach NT,Lan F,Ullmann R,Silahtaroglu A,Kurth I,Nowka A,Seong IS,Shen Y,Talkowski ME,Ruderfer D,Lee JH,Glotzbach C,Ha K,Kjaergaard S,Levin AV,Romeike BF,Kleefstra T,Bartsch O,Elsea SH,Jabs EW,Mac

    更新日期：2012-07-13 00:00:00

  • Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

    abstract：:Distal hereditary motor neuronopathy type VII (dHMN-VII) is an autosomal dominant disorder characterized by distal muscular atrophy and vocal cord paralysis. We performed a genomewide linkage search in a large Welsh pedigree with dHMN-VII and established linkage to chromosome 2q14. Analyses of a second family with dHM...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/320122

    authors： McEntagart M,Norton N,Williams H,Teare MD,Dunstan M,Baker P,Houlden H,Reilly M,Wood N,Harper PS,Futreal PA,Williams N,Rahman N

    更新日期：2001-05-01 00:00:00

  • The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

    abstract：:Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis, and additional minor malformations, but males are usually mildly affected with hypertelorism only. Despite this, males appe...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/504440

    authors： Twigg SR,Matsumoto K,Kidd AM,Goriely A,Taylor IB,Fisher RB,Hoogeboom AJ,Mathijssen IM,Lourenco MT,Morton JE,Sweeney E,Wilson LC,Brunner HG,Mulliken JB,Wall SA,Wilkie AO

    更新日期：2006-06-01 00:00:00

  • cis Elements that Mediate RNA Polymerase II Pausing Regulate Human Gene Expression.

    abstract：:Aberrant gene expression underlies many human diseases. RNA polymerase II (Pol II) pausing is a key regulatory step in transcription. Here, we mapped the locations of RNA Pol II in normal human cells and found that RNA Pol II pauses in a consistent manner across individuals and cell types. At more than 1,000 genes inc...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.08.003

    authors： Watts JA,Burdick J,Daigneault J,Zhu Z,Grunseich C,Bruzel A,Cheung VG

    更新日期：2019-10-03 00:00:00

  • The gene encoding human vimentin is located on the short arm of chromosome 10.

    abstract：:The gene for vimentin, an intermediate-filament protein, is growth regulated. We used Southern blot analysis and in situ chromosome hybridization to determine the location of the human vimentin gene. Our results show that there is only one copy of the vimentin gene and that it is located on the short arm of chromosome...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ferrari S,Cannizzaro LA,Battini R,Huebner K,Baserga R

    更新日期：1987-10-01 00:00:00

  • Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.

    abstract：:Gaucher disease (GD) is one of the most prevalent lysosomal storage disorders and one of the rare genetic diseases now accessible to therapy. Outside the Ashkenazi Jewish community, a high molecular diversity is observed, leaving approximately 30% of alleles undetected. Nevertheless, very few exhaustive methods have b...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301969

    authors： Germain DP,Puech JP,Caillaud C,Kahn A,Poenaru L

    更新日期：1998-08-01 00:00:00

  • Perception of carrier status by cystic fibrosis siblings.

    abstract：:Now that the cystic fibrosis (CF) gene has been identified, direct genetic testing for this disorder is available. The current lack of precision has generated a controversy concerning whether population screening is advisable. However, there is general agreement that testing for CF carriers should be offered to CF-aff...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Fanos JH,Johnson JP

    更新日期：1995-08-01 00:00:00

  • Structure and Barr body formation of an Xp + chromosome with two inactivation centers.

    abstract：:A patients with seizures, Von Willebrand disease, and symptoms of Turner syndrome was a chromosomal mosaic. In blood culture (1974), 56% of the cells were 45, X 33% 46, XXp+ and 11% 47,XXp + Xp +; in the skin, no cells with 47 chromosomes were found. Presumably the Xp + chromosome arose through a break in the Q-banded...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Daly RF,Patau K,Therman E,Sarto GE

    更新日期：1977-01-01 00:00:00

  • 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

  • Electrotypes and formal genetics of red cell glutathione peroxidase (GPX1) in the Djuka of Surinam.

    abstract：:Samples of venous blood from 239 male and 476 female adults including 41 pairs of parents and 123 of their children belonging to a Surinam population called the Djuka or Bush Negroes of West African origin were screened for electrophoretic variants of red cell glutathione peroxidase (GPX1) in Cellogel. The results con...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Meera Khan P,Verma C,Wijnen LM,Wijnen JT,Prins HK,Nijenhuis LE

    更新日期：1986-05-01 00:00:00

  • Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.

    abstract：:We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). In view of the consanguineous nature of the affected families and the likely autosomal-recessive inheritance pattern of this syn...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2014.04.002

    authors： Patel N,Khan AO,Mansour A,Mohamed JY,Al-Assiri A,Haddad R,Jia X,Xiong Y,Mégarbané A,Traboulsi EI,Alkuraya FS

    更新日期：2014-05-01 00:00:00