当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.

Abstract：

:The introduction of stochastic methods in pedigree analysis has enabled geneticists to tackle computations intractable by standard deterministic methods. Until now these stochastic techniques have worked by running a Markov chain on the set of genetic descent states of a pedigree. Each descent state specifies the paths of gene flow in the pedigree and the founder alleles dropped down each path. The current paper follows up on a suggestion by Elizabeth Thompson that genetic descent graphs offer a more appropriate space for executing a Markov chain. A descent graph specifies the paths of gene flow but not the particular founder alleles traveling down the paths. This paper explores algorithms for implementing Thompson's suggestion for codominant markers in the context of automatic haplotyping, estimating location scores, and computing gene-clustering statistics for robust linkage analysis. Realistic numerical examples demonstrate the feasibility of the algorithms.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Sobel E,Lange K

subject

Has Abstract

pub_date

1996-06-01 00:00:00

pages

1323-37

issue

6

eissn

0002-9297

issn

1537-6605

journal_volume

58

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • DNA haplotype analyses of patients with hyperphenylalaninemia.

    abstract：:Linkage analysis of phenylketonurics has shown a strong association between the DNA haplotype at the phenylalanine hydroxylase (PAH) locus and phenylketonuria (PKU). Similarly, a genetic linkage between less severe forms of hyperphenylalaninemia (HPA) and the PAH locus has been suggested. In the present study we analy...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Di Silvestre D,Pandya A,Koch R,Groffen J

    更新日期：1990-10-01 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

  • Genetic variation in radiation-induced expression phenotypes.

    abstract：:Studies have demonstrated that natural variation in the expression level of genes at baseline is extensive, and the determinants of this variation can be mapped by a genetic-linkage approach. In this study, we used lymphoblastoid cells to explore the variation in radiation-induced transcriptional changes. We found tha...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/425221

    authors： Correa CR,Cheung VG

    更新日期：2004-11-01 00:00:00

  • The Y-associated XY275 low allele is not restricted to indigenous African peoples.

    abstract：:The level of linkage disequilibrium between the XY275 MspI polymorphism and the X and Y boundaries was investigated in 21 different southern African populations. A full range of frequencies of the high allele was observed on the 1,013 X chromosomes studied, in keeping with published data. In previous studies fixation ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Spurdle A,Ramsay M,Jenkins T

    更新日期：1992-06-01 00:00:00

  • SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

    abstract：:Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.02.009

    authors： Fabre A,Charroux B,Martinez-Vinson C,Roquelaure B,Odul E,Sayar E,Smith H,Colomb V,Andre N,Hugot JP,Goulet O,Lacoste C,Sarles J,Royet J,Levy N,Badens C

    更新日期：2012-04-06 00:00:00

  • Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

    abstract：:Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core lesions (known as "minicores") in most muscle fibers. MmD is a clinically heterogeneous condition, in which four subgroups have been distinguished. Homozygous RYR1 mutations have been recentl...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/342719

    authors： Ferreiro A,Quijano-Roy S,Pichereau C,Moghadaszadeh B,Goemans N,Bönnemann C,Jungbluth H,Straub V,Villanova M,Leroy JP,Romero NB,Martin JJ,Muntoni F,Voit T,Estournet B,Richard P,Fardeau M,Guicheney P

    更新日期：2002-10-01 00:00:00

  • A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

    abstract：:Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus (1q21.2-q21.3) has been reported for the autosomal recessive form. Here we report the results o...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/316934

    authors： Leal A,Morera B,Del Valle G,Heuss D,Kayser C,Berghoff M,Villegas R,Hernández E,Méndez M,Hennies HC,Neundörfer B,Barrantes R,Reis A,Rautenstrauss B

    更新日期：2001-01-01 00:00:00

  • Association and linkage of the dopamine transporter gene and attention-deficit hyperactivity disorder in children: heterogeneity owing to diagnostic subtype and severity.

    abstract：:Attention-deficit hyperactivity disorder (ADHD) affects approximately 3%-5% of children in the United States. In the current psychiatric nomenclature, ADHD comprises three subtypes: inattentive, hyperactive-impulsive, and combined. In this study, we used four analytic strategies to examine the association and linkage ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302132

    authors： Waldman ID,Rowe DC,Abramowitz A,Kozel ST,Mohr JH,Sherman SL,Cleveland HH,Sanders ML,Gard JM,Stever C

    更新日期：1998-12-01 00:00:00

  • Localization of the human procollagen alpha 1(IV) gene to chromosome 13q34 by in situ hybridization.

    abstract：:Type IV (alpha 1 and alpha 2 chains) appears to be the only procollagen present in basement membranes. The structure of this protein is highly divergent from the interstitial and type V procollagens as exemplified by the interruptions in the Gly-X-Y region and unprocessed amino and carboxyl noncollagenous peptides. To...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Emanuel BS,Sellinger BT,Gudas LJ,Myers JC

    更新日期：1986-01-01 00:00:00

  • Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.

    abstract：:Methylmalonyl CoA mutase (MCM) catalyzes an essential step in the degradation of several branch-chain amino acids and odd-chain fatty acids. Deficiency of this apoenzyme causes the mut form of methylmalonic acidemia, an often fatal disorder of organic acid metabolism. An MCM cDNA has recently been obtained from human ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ledley FD,Lumetta MR,Zoghbi HY,VanTuinen P,Ledbetter SA,Ledbetter DH

    更新日期：1988-06-01 00:00:00

  • Nuclear and mitochondrial DNA analysis of a 2,000-year-old necropolis in the Egyin Gol Valley of Mongolia.

    abstract：:DNA was extracted from the skeletal remains of 62 specimens excavated from the Egyin Gol necropolis, in northern Mongolia. This burial site is linked to the Xiongnu period and was used from the 3rd century b.c. to the 2nd century a.d. Three types of genetic markers were used to determine the genetic relationships betw...

    journal_title：American journal of human genetics

    pub_type： 历史文章,杂志文章

    doi：10.1086/377005

    authors： Keyser-Tracqui C,Crubézy E,Ludes B

    更新日期：2003-08-01 00:00:00

  • Importance sampling. I. Computing multimodel p values in linkage analysis.

    abstract：:In linkage analysis, when the lod score is maximized over multiple genetic models, standard asymptotic approximation of the significance level does not apply. Monte Carlo methods can be used to estimate the p value, but procedures currently used are extremely inefficient. We propose a Monte Carlo procedure based on th...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kong A,Frigge M,Irwin M,Cox N

    更新日期：1992-12-01 00:00:00

  • Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

    abstract：:Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using a combination of autozygosity mapping an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.02.012

    authors： Schossig A,Wolf NI,Fischer C,Fischer M,Stocker G,Pabinger S,Dander A,Steiner B,Tönz O,Kotzot D,Haberlandt E,Amberger A,Burwinkel B,Wimmer K,Fauth C,Grond-Ginsbach C,Koch MJ,Deichmann A,von Kalle C,Bartram CR,Kohls

    更新日期：2012-04-06 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

  • DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis.

    abstract：:Epigenetic modifications, including DNA methylation, represent a potential mechanism for environmental impacts on human disease. Maternal smoking in pregnancy remains an important public health problem that impacts child health in a myriad of ways and has potential lifelong consequences. The mechanisms are largely unk...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.ajhg.2016.02.019

    authors： Joubert BR,Felix JF,Yousefi P,Bakulski KM,Just AC,Breton C,Reese SE,Markunas CA,Richmond RC,Xu CJ,Küpers LK,Oh SS,Hoyo C,Gruzieva O,Söderhäll C,Salas LA,Baïz N,Zhang H,Lepeule J,Ruiz C,Ligthart S,Wang T,Taylor

    更新日期：2016-04-07 00:00:00

  • Studies on phenotypic complementation of ataxia-telangiectasia cells by chromosome transfer.

    abstract：:Cells derived from patients with the cancer-prone inherited disorder ataxia-telangiectasia (A-T) show an abnormal response to ionizing radiation-induced DNA damage, such as an increased cell killing and a diminished inhibition of DNA synthesis. The enhanced killing of A-T (group D) cells by X-rays can be corrected by ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Jongmans W,Verhaegh GW,Jaspers NG,Oshimura M,Stanbridge EJ,Lohman PH,Zdzienicka MZ

    更新日期：1995-02-01 00:00:00

  • Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

    abstract：:N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of t...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.03.004

    authors： Cheng H,Dharmadhikari AV,Varland S,Ma N,Domingo D,Kleyner R,Rope AF,Yoon M,Stray-Pedersen A,Posey JE,Crews SR,Eldomery MK,Akdemir ZC,Lewis AM,Sutton VR,Rosenfeld JA,Conboy E,Agre K,Xia F,Walkiewicz M,Longoni M,H

    更新日期：2018-05-03 00:00:00

  • A note on Cannings and Thompson's sequential sampling scheme for pedigrees.

    abstract：:We consider sequential sampling of pedigrees for genetic analysis. Cannings and Thompson (1977) gave simple, general guidelines for valid sequential sampling schemes. We show that their formulation of the likelihood contains an error, which is, however, easily corrected so as to maintain the validity of the sequential...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hodge SE,Boehnke M

    更新日期：1986-08-01 00:00:00

  • Reconstructing genetic ancestry blocks in admixed individuals.

    abstract：:A chromosome in an individual of recently admixed ancestry resembles a mosaic of chromosomal segments, or ancestry blocks, each derived from a particular ancestral population. We consider the problem of inferring ancestry along the chromosomes in an admixed individual and thereby delineating the ancestry blocks. Using...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/504302

    authors： Tang H,Coram M,Wang P,Zhu X,Risch N

    更新日期：2006-07-01 00:00:00

  • Phylogenetic and familial estimates of mitochondrial substitution rates: study of control region mutations in deep-rooting pedigrees.

    abstract：:We studied mutations in the mtDNA control region (CR) using deep-rooting French-Canadian pedigrees. In 508 maternal transmissions, we observed four substitutions (0.0079 per generation per 673 bp, 95% CI 0.0023-0.186). Combined with other familial studies, our results add up to 18 substitutions in 1,729 transmissions ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/324024

    authors： Heyer E,Zietkiewicz E,Rochowski A,Yotova V,Puymirat J,Labuda D

    更新日期：2001-11-01 00:00:00

  • Chromosome deletion mapping of interspersed low-copy repetitive DNA.

    abstract：:A cloned 2.2 Eco RI segment of interspersed repetitive DNA was hybridized to genomic DNA from a mentally retarded patient with an interstitial deletion in the long arm of one chromosome 12 (12q-). Under hybridization conditions of high stringency, one prominent 2.2-kilobase (kb) Eco RI fragment demonstrated reduced au...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Funderburk SJ,Sparkes RS,Klisak I,Law ML

    更新日期：1984-07-01 00:00:00

  • Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.

    abstract：:A total of 254 affected parent-child pairs with Huntington disease (HD) and 440 parent-child pairs with CAG size in the normal range were assessed to determine the nature and frequency of intergenerational CAG changes in the HD gene. Intergenerational CAG changes are extremely rare (3/440 [0.68%]) on normal chromosome...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kremer B,Almqvist E,Theilmann J,Spence N,Telenius H,Goldberg YP,Hayden MR

    更新日期：1995-08-01 00:00:00

  • Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

    abstract：:Charcot-Marie-Tooth disease is characterized by length-dependent axonal degeneration with distal sensory loss and weakness, deep-tendon-reflex abnormalities, and skeletal deformities. It is caused by mutations in more than 40 genes. We investigated a four-generation family with 23 members affected by the axonal form (...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.07.002

    authors： Weedon MN,Hastings R,Caswell R,Xie W,Paszkiewicz K,Antoniadi T,Williams M,King C,Greenhalgh L,Newbury-Ecob R,Ellard S

    更新日期：2011-08-12 00:00:00

  • PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases.

    abstract：:Recently, to speed up the differential-diagnosis process based on symptoms and signs observed from an affected individual in the diagnosis of rare diseases, researchers have developed and implemented phenotype-driven differential-diagnosis systems. The performance of those systems relies on the quantity and quality of...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.08.003

    authors： Fujiwara T,Yamamoto Y,Kim JD,Buske O,Takagi T

    更新日期：2018-09-06 00:00:00

  • Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

    abstract：:Uniparental disomy (UPD) is a rare condition in which a diploid offspring carries a chromosomal pair from a single parent. We now report the first two cases of UPD resulting in retinal degeneration. We identified an apparently homozygous loss-of-function mutation of RPE65 (1p31) in one retinal dystrophy patient and an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338455

    authors： Thompson DA,McHenry CL,Li Y,Richards JE,Othman MI,Schwinger E,Vollrath D,Jacobson SG,Gal A

    更新日期：2002-01-01 00:00:00

  • NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

    abstract：:The hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders characterized by progressive lower-extremity weakness and spasticity. The molecular pathogenesis is poorly understood. We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP)...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/378817

    authors： Rainier S,Chai JH,Tokarz D,Nicholls RD,Fink JK

    更新日期：2003-10-01 00:00:00

  • Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

    abstract：:Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutat...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.08.027

    authors： Twigg SR,Lloyd D,Jenkins D,Elçioglu NE,Cooper CD,Al-Sannaa N,Annagür A,Gillessen-Kaesbach G,Hüning I,Knight SJ,Goodship JA,Keavney BD,Beales PL,Gileadi O,McGowan SJ,Wilkie AO

    更新日期：2012-11-02 00:00:00

  • Effect of reproductive compensation and the desire to have male offspring on the incidence of a sex-linked lethal disease.

    abstract：:The effects of reproductive compensation on an X-linked recessive lethal are examined. Complete compensation without regard to the sex of the offspring increases the incidence of female carriers by a factor of 1.5, and of affected males by 1.33. However, if families reproduce until they have a healthy male offspring, ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Templeton AR,Yokoyama S

    更新日期：1980-07-01 00:00:00

  • Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

    abstract：:Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases presenting great clinical heterogeneity. Mutations in CANP3, the gene encoding muscle-specific calpain, were used to identify this gene as the genetic site responsible for autosomal recessive LGMD type 2A (LGMD2A; MIM 253600). Analyses of t...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Richard I,Brenguier L,Dinçer P,Roudaut C,Bady B,Burgunder JM,Chemaly R,Garcia CA,Halaby G,Jackson CE,Kurnit DM,Lefranc G,Legum C,Loiselet J,Merlini L,Nivelon-Chevallier A,Ollagnon-Roman E,Restagno G,Topaloglu H,Beck

    更新日期：1997-05-01 00:00:00

  • Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting.

    abstract：:Argininosuccinate lyase (AS lyase) deficiency is an inborn error of the urea cycle with extensive clinical and genetic heterogeneity. We investigated the biochemical basis of the enzyme defect and the genetic heterogeneity in this disorder using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Simard L,O'Brien WE,McInnes RR

    更新日期：1986-07-01 00:00:00