当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Consistent linkage of the long-QT syndrome to the Harvey ras-1 locus on chromosome 11.

Consistent linkage of the long-QT syndrome to the Harvey ras-1 locus on chromosome 11.

Abstract：

:The long-QT syndrome (LQT; Ward-Romano syndrome) is a cardiac disorder that is inherited as an autosomal dominant trait. Affected family members suffer from recurrent syncope and sudden death due to ventricular arrhythmias. Recently, we identified a DNA marker on the short arm of chromosome 11 (the Harvey ras-1 locus [H-ras-1]) that was completely linked to the LQT locus in one large family. In the study presented here, we performed linkage investigations on six new and unrelated families with LQT. The LQT locus was again completely linked to the H-ras-1 locus in all families examined, with a combined lod score of 5.25 at a recombination fraction of 0. This work confirms our previous assignment of the LQT locus to chromosome 11p and supports the hypothesis that LQT is genetically homogeneous. As no obligate recombinants were identified in either this or our previous study, the H-ras-1 protooncogene remains a candidate for the LQT disease gene. Identification of LQT families with locus homogeneity is an important step in the development of a refined genetic map of this locus and will help determine whether the H-ras-1 marker would be of general use for presymptomatic diagnosis of this potentially fatal, but treatable, disorder.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Keating M,Dunn C,Atkinson D,Timothy K,Vincent GM,Leppert M

subject

Has Abstract

pub_date

1991-12-01 00:00:00

pages

1335-9

issue

6

eissn

0002-9297

issn

1537-6605

journal_volume

49

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Genotype-imputation accuracy across worldwide human populations.

    abstract：:A current approach to mapping complex-disease-susceptibility loci in genome-wide association (GWA) studies involves leveraging the information in a reference database of dense genotype data. By modeling the patterns of linkage disequilibrium in a reference panel, genotypes not directly measured in the study samples ca...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.01.013

    authors： Huang L,Li Y,Singleton AB,Hardy JA,Abecasis G,Rosenberg NA,Scheet P

    更新日期：2009-02-01 00:00:00

  • Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.

    abstract：:Acid sphingomyelinase (ASM) is the lipid hydrolase that is deficient in types A and B Niemann-Pick disease (NPD). Here, we demonstrate that the gene encoding ASM (SMPD1) is paternally imprinted and that differential expression of the mutant alleles in patients with ASM-deficient NPD and in carriers influences the dise...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/503750

    authors： Simonaro CM,Park JH,Eliyahu E,Shtraizent N,McGovern MM,Schuchman EH

    更新日期：2006-05-01 00:00:00

  • CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

    abstract：:We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early dea...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2014.12.013

    authors： Wortmann SB,Ziętkiewicz S,Kousi M,Szklarczyk R,Haack TB,Gersting SW,Muntau AC,Rakovic A,Renkema GH,Rodenburg RJ,Strom TM,Meitinger T,Rubio-Gozalbo ME,Chrusciel E,Distelmaier F,Golzio C,Jansen JH,van Karnebeek C,Lillqu

    更新日期：2015-02-05 00:00:00

  • A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

    abstract：:Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a serious and potentially fatal inherited defect in the beta-oxidation of fatty acids. Approximately 80% of patients with MCAD deficiency are homozygous for a single disease-causing mutation (G985). The remaining patients (except for a few cases worldwide) are c...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Andresen BS,Bross P,Jensen TG,Winter V,Knudsen I,Kølvraa S,Jensen UB,Bolund L,Duran M,Kim JJ

    更新日期：1993-09-01 00:00:00

  • A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

    abstract：:Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a characteristic curving of the radius, known as the "Madelung deformity." SHOX mutations resulting in SHOX haploinsufficiency have been found in LWD and in a variable proportion of patients wi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/449313

    authors： Benito-Sanz S,Thomas NS,Huber C,Gorbenko del Blanco D,Aza-Carmona M,Crolla JA,Maloney V,Rappold G,Argente J,Campos-Barros A,Cormier-Daire V,Heath KE

    更新日期：2005-10-01 00:00:00

  • Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.

    abstract：:Lipoic acid is an essential prosthetic group of four mitochondrial enzymes involved in the oxidative decarboxylation of pyruvate, α-ketoglutarate, and branched chain amino acids and in the glycine cleavage. Lipoic acid is synthesized stepwise within mitochondria through a process that includes lipoic acid synthetase. ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.11.011

    authors： Mayr JA,Zimmermann FA,Fauth C,Bergheim C,Meierhofer D,Radmayr D,Zschocke J,Koch J,Sperl W

    更新日期：2011-12-09 00:00:00

  • A 3.4-kb Copy-Number Deletion near EPAS1 Is Significantly Enriched in High-Altitude Tibetans but Absent from the Denisovan Sequence.

    abstract：:Tibetan high-altitude adaptation (HAA) has been studied extensively, and many candidate genes have been reported. Subsequent efforts targeting HAA functional variants, however, have not been that successful (e.g., no functional variant has been suggested for the top candidate HAA gene, EPAS1). With WinXPCNVer, a metho...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.05.005

    authors： Lou H,Lu Y,Lu D,Fu R,Wang X,Feng Q,Wu S,Yang Y,Li S,Kang L,Guan Y,Hoh BP,Chung YJ,Jin L,Su B,Xu S

    更新日期：2015-07-02 00:00:00

  • 2018 ASHG Awards and Addresses.

    abstract：:Each year at the annual meeting of The American Society of Human Genetics (ASHG), addresses are given in honor of the Society and a number of award winners. A summary of each of these is provided below. On the following pages, we have printed the Presidential Address as well as the addresses for the William Allan Awar...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.02.019

    authors：

    更新日期：2019-03-07 00:00:00

  • Replication of autism linkage: fine-mapping peak at 17q21.

    abstract：:Autism is a heritable but genetically complex disorder characterized by deficits in language and in reciprocal social interactions, combined with repetitive and stereotypic behaviors. As with many genetically complex disorders, numerous genome scans reveal inconsistent results. A genome scan of 345 families from the A...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/430278

    authors： Cantor RM,Kono N,Duvall JA,Alvarez-Retuerto A,Stone JL,Alarcón M,Nelson SF,Geschwind DH

    更新日期：2005-06-01 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

  • 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

  • Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

    abstract：:An autosomal recessive deficiency of acid alpha-glucosidase (GAA), type II glycogenosis, is genetically and clinically heterogeneous. The discovery of an enzyme-inactivating genomic deletion of exon 18 in three unrelated genetic compound patients--two infants and an adult--provided a rare opportunity to analyze the ef...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Boerkoel CF,Exelbert R,Nicastri C,Nichols RC,Miller FW,Plotz PH,Raben N

    更新日期：1995-04-01 00:00:00

  • A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.

    abstract：:More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during the past decade, the majority of deafness genes are yet to be identified. In this study, we mapped a previously unknown...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.04.004

    authors： Sirmaci A,Erbek S,Price J,Huang M,Duman D,Cengiz FB,Bademci G,Tokgöz-Yilmaz S,Hişmi B,Ozdağ H,Oztürk B,Kulaksizoğlu S,Yildirim E,Kokotas H,Grigoriadou M,Petersen MB,Shahin H,Kanaan M,King MC,Chen ZY,Blanton SH,L

    更新日期：2010-05-14 00:00:00

  • Linkage mapping of a severe X-linked mental retardation syndrome.

    abstract：:A four-generation Swedish family with a new type of X-linked mental retardation syndrome was recently reported by Gustavson et al. The complex syndrome includes microcephaly, severe mental retardation, optical atrophy with decreased vision or blindness, severe hearing defect, characteristic facial features, spasticity...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Malmgren H,Sundvall M,Dahl N,Gustavson KH,Annerén G,Wadelius C,Steén-Bondeson ML,Pettersson U

    更新日期：1993-06-01 00:00:00

  • Association between single-nucleotide polymorphisms in selectin genes and immunoglobulin A nephropathy.

    abstract：:Although intensive efforts have been undertaken to elucidate the genetic background of immunoglobulin A nephropathy (IgAN), genetic factors associated with the pathogenesis of this disease are still not well understood. We designed a case-control association study that was based on linkage disequilibrium among single-...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/339077

    authors： Takei T,Iida A,Nitta K,Tanaka T,Ohnishi Y,Yamada R,Maeda S,Tsunoda T,Takeoka S,Ito K,Honda K,Uchida K,Tsuchiya K,Suzuki Y,Fujioka T,Ujiie T,Nagane Y,Miyano S,Narita I,Gejyo F,Nihei H,Nakamura Y

    更新日期：2002-03-01 00:00:00

  • Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

    abstract：:Ca2+ signaling is vital for various cellular processes including synaptic vesicle exocytosis, muscle contraction, regulation of secretion, gene transcription, and cellular proliferation. The endoplasmic reticulum (ER) is the largest intracellular Ca2+ store, and dysregulation of ER Ca2+ signaling and homeostasis contr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.09.014

    authors： Morimoto M,Waller-Evans H,Ammous Z,Song X,Strauss KA,Pehlivan D,Gonzaga-Jauregui C,Puffenberger EG,Holst CR,Karaca E,Brigatti KW,Maguire E,Coban-Akdemir ZH,Amagata A,Lau CC,Chepa-Lotrea X,Macnamara E,Tos T,Isikay S,

    更新日期：2018-11-01 00:00:00

  • A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

    abstract：:Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to but genetically distinct from Marfan syndrome. Genetic-linkage analysis has implicated the fibrillin-2 gene (FBN2) as the CCA locus. Mutation analysis of two isolated CCA patients revealed missense mutation...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/515472

    authors： Maslen C,Babcock D,Raghunath M,Steinmann B

    更新日期：1997-06-01 00:00:00

  • Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

    abstract：:Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional a...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.09.018

    authors： Sanna-Cherchi S,Khan K,Westland R,Krithivasan P,Fievet L,Rasouly HM,Ionita-Laza I,Capone VP,Fasel DA,Kiryluk K,Kamalakaran S,Bodria M,Otto EA,Sampson MG,Gillies CE,Vega-Warner V,Vukojevic K,Pediaditakis I,Makar GS,M

    更新日期：2017-11-02 00:00:00

  • TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.

    abstract：:Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of the upper and lower ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.06.014

    authors： Wallmeier J,Shiratori H,Dougherty GW,Edelbusch C,Hjeij R,Loges NT,Menchen T,Olbrich H,Pennekamp P,Raidt J,Werner C,Minegishi K,Shinohara K,Asai Y,Takaoka K,Lee C,Griese M,Memari Y,Durbin R,Kolb-Kokocinski A,Sauer

    更新日期：2016-08-04 00:00:00

  • FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition.

    abstract：:Experiments designed to illuminate the mechanism by which folic acid and thymidine inhibit expression of the Xq28 fragile site in human lymphocytes are described. The fragile site is induced by 5-fluorodeoxyuridine (FUdR), a potent inhibitor of thymidylate synthetase, in the presence of otherwise inhibiting concentrat...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Glover TW

    更新日期：1981-03-01 00:00:00

  • A multipoint linkage map of the distal short arm of the human X chromosome.

    abstract：:The distal portion of the short arm of the human X chromosome (Xp) exhibits many unique and interesting features. Distal Xp contains the pseudoautosomal region, a number of disease loci, and several cell-surface markers. Several genes in this area have also been observed to escape X-chromosomal inactivation. The chara...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Johnson CL,Charmley P,Yen PH,Shapiro LJ

    更新日期：1991-08-01 00:00:00

  • Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

    abstract：:Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.09.010

    authors： Di Donato N,Jean YY,Maga AM,Krewson BD,Shupp AB,Avrutsky MI,Roy A,Collins S,Olds C,Willert RA,Czaja AM,Johnson R,Stover JA,Gottlieb S,Bartholdi D,Rauch A,Goldstein A,Boyd-Kyle V,Aldinger KA,Mirzaa GM,Nissen A,Br

    更新日期：2016-11-03 00:00:00

  • Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

    abstract：:DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder defined by the triad of short stature, microtia, and a/hypoplastic patel...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.05.019

    authors： Fenwick AL,Kliszczak M,Cooper F,Murray J,Sanchez-Pulido L,Twigg SR,Goriely A,McGowan SJ,Miller KA,Taylor IB,Logan C,WGS500 Consortium.,Bozdogan S,Danda S,Dixon J,Elsayed SM,Elsobky E,Gardham A,Hoffer MJ,Koopmans M,

    更新日期：2016-07-07 00:00:00

  • CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

    abstract：:Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes, result from loss of function mutations in chromodomain helicase DNA-binding protein 7 (CHD7LOF) and lysine (K) methyltransferase 2D (KMT2DLOF), respectively. A...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.04.004

    authors： Butcher DT,Cytrynbaum C,Turinsky AL,Siu MT,Inbar-Feigenberg M,Mendoza-Londono R,Chitayat D,Walker S,Machado J,Caluseriu O,Dupuis L,Grafodatskaya D,Reardon W,Gilbert-Dussardier B,Verloes A,Bilan F,Milunsky JM,Basran R,

    更新日期：2017-05-04 00:00:00

  • Closing the gap: inverting the genetics curriculum to ensure an informed public.

    abstract：:Over the past 20 years, the focus of national efforts to improve K-12 science education has ranged from curriculum and professional development of teachers to the adoption of science standards and high-stakes testing. In spite of this work, students in the United States continue to lag behind their peers in other coun...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.05.010

    authors： Dougherty MJ

    更新日期：2009-07-01 00:00:00

  • The Hartnup phenotype: Mendelian transport disorder, multifactorial disease.

    abstract：:The Hartnup mutation affects an amino acid transport system of intestine and kidney used by a large group of neutral charge alpha-amino acids (six essential and several nonessential). We compared developmental outcomes and medical histories of 21 Hartnup subjects, identified through newborn screening, with those of 19...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Scriver CR,Mahon B,Levy HL,Clow CL,Reade TM,Kronick J,Lemieux B,Laberge C

    更新日期：1987-05-01 00:00:00

  • A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.

    abstract：:Richieri-Costa-Pereira syndrome is an autosomal-recessive acrofacial dysostosis characterized by mandibular median cleft associated with other craniofacial anomalies and severe limb defects. Learning and language disabilities are also prevalent. We mapped the mutated gene to a 122 kb region at 17q25.3 through identity...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.11.020

    authors： Favaro FP,Alvizi L,Zechi-Ceide RM,Bertola D,Felix TM,de Souza J,Raskin S,Twigg SR,Weiner AM,Armas P,Margarit E,Calcaterra NB,Andersen GR,McGowan SJ,Wilkie AO,Richieri-Costa A,de Almeida ML,Passos-Bueno MR

    更新日期：2014-01-02 00:00:00

  • Maternal effects on fingertip dermatoglyphics.

    abstract：:Significantly larger variation between sibships within families of male MZ twins than between sibships within families of female MZ twins, indicative of maternal influences, was found for 10 of 41 dermatoglyphic fingertip variables. Of these, five were thumb-related with the effect primarily on the thumb radial and ri...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Reed T,Evans MM,Norton JA Jr,Christian JC

    更新日期：1979-05-01 00:00:00

  • Linkage disequilibrium study of RFLPs detected at the human muscle nicotinic acetylcholine receptor subunit genes.

    abstract：:We screened DNA from unrelated individuals for RFLPs in the muscle nicotinic acetylcholine receptor (AcChoR) genes. These RFLP markers can be used for genetic linkage and association studies to test the hypothesis that receptor structure or regulation is involved in the development of myasthenia gravis (MG). The cDNAs...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Lobos EA,Rudnick CH,Watson MS,Isenberg KE

    更新日期：1989-04-01 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