Segregation of all four major fibrillar collagen genes in the Marfan syndrome.

Abstract:

:Linkage markers at or close to the genes encoding the three major fibrillar collagens were used to analyze the segregation of these loci in six pedigrees with dominantly inherited Marfan syndrome. Four pedigrees were discordant at one of the Type I collagen loci (COL1A2), and, of these, two were discordant at the other Type I locus (COL1A1). The Marfan syndrome also segregated independently of the structural loci for Type II and Type III collagen in these two families. This is evidence against the Marfan syndrome being, in general, due to mutations in the major fibrillar collagen genes.

journal_name

Am J Hum Genet

authors

Ogilvie DJ,Wordsworth BP,Priestley LM,Dalgleish R,Schmidtke J,Zoll B,Sykes BC

subject

Has Abstract

pub_date

1987-12-01 00:00:00

pages

1071-82

issue

6

eissn

0002-9297

issn

1537-6605

journal_volume

41

pub_type

杂志文章
  • De novo myotonic dystrophy mutation in a Nigerian kindred.

    abstract::An expansion of an unstable (CTG)n trinucleotide repeat in the 3' UTR of a gene encoding a putative serine/threonine protein kinase (DMPK) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (DM) disease phenotype. In addition, a single haplotype composed of nine alleles within and fla...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Krahe R,Eckhart M,Ogunniyi AO,Osuntokun BO,Siciliano MJ,Ashizawa T

    更新日期:1995-05-01 00:00:00

  • Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.

    abstract::Wolfram syndrome (MIM 222300) is characterized by optic atrophy, diabetes mellitus, diabetes insipidus, neurosensory hearing loss, urinary tract abnormalities, and neurological dysfunction. The association of clinical manifestations in tissues and organs unrelated functionally or embryologically suggested the possibil...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Barrientos A,Casademont J,Saiz A,Cardellach F,Volpini V,Solans A,Tolosa E,Urbano-Marquez A,Estivill X,Nunes V

    更新日期:1996-05-01 00:00:00

  • Mutations in DHDPSL are responsible for primary hyperoxaluria type III.

    abstract::Primary hyperoxaluria (PH) is an autosomal-recessive disorder of endogenous oxalate synthesis characterized by accumulation of calcium oxalate primarily in the kidney. Deficiencies of alanine-glyoxylate aminotransferase (AGT) or glyoxylate reductase (GRHPR) are the two known causes of the disease (PH I and II, respect...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2010.07.023

    authors: Belostotsky R,Seboun E,Idelson GH,Milliner DS,Becker-Cohen R,Rinat C,Monico CG,Feinstein S,Ben-Shalom E,Magen D,Weissman I,Charon C,Frishberg Y

    更新日期:2010-09-10 00:00:00

  • Family study and segregation analysis of Tourette syndrome: evidence for a mixed model of inheritance.

    abstract::To investigate the transmission of Tourette syndrome (TS) and associated disorders within families, complex segregation analysis was performed on family study data obtained from 53 independently ascertained children and adolescents with TS and their 154 first-degree relatives. The results suggest that the susceptibili...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Walkup JT,LaBuda MC,Singer HS,Brown J,Riddle MA,Hurko O

    更新日期:1996-09-01 00:00:00

  • A comparison of phasing algorithms for trios and unrelated individuals.

    abstract::Knowledge of haplotype phase is valuable for many analysis methods in the study of disease, population, and evolutionary genetics. Considerable research effort has been devoted to the development of statistical and computational methods that infer haplotype phase from genotype data. Although a substantial number of su...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/500808

    authors: Marchini J,Cutler D,Patterson N,Stephens M,Eskin E,Halperin E,Lin S,Qin ZS,Munro HM,Abecasis GR,Donnelly P,International HapMap Consortium.

    更新日期:2006-03-01 00:00:00

  • Interethnic genetic differentiation in Africa: HLA class I antigens in The Gambia.

    abstract::A total of 752 individuals from The Gambia, west Africa who are representative of the major ethnic groups in the capital, Banjul, were serologically typed for HLA-A, -B, and -C antigens. Although all were typically "African" in their antigenic profiles, some marked frequency differences were found between the ethnic g...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Allsopp CE,Harding RM,Taylor C,Bunce M,Kwiatkowski D,Anstey N,Brewster D,McMichael AJ,Greenwood BM,Hill AV

    更新日期:1992-02-01 00:00:00

  • Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

    abstract::Cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. By using homozygosity mapping in an individual with autosomal-recessive (ar) RP from a consanguineous family, we identified three sizeable homozygous regions, together encompassing 46 Mb...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2011.11.015

    authors: Estrada-Cuzcano A,Neveling K,Kohl S,Banin E,Rotenstreich Y,Sharon D,Falik-Zaccai TC,Hipp S,Roepman R,Wissinger B,Letteboer SJ,Mans DA,Blokland EA,Kwint MP,Gijsen SJ,van Huet RA,Collin RW,Scheffer H,Veltman JA,Zrenne

    更新日期:2012-01-13 00:00:00

  • Patterns of ancestral human diversity: an analysis of Alu-insertion and restriction-site polymorphisms.

    abstract::We have analyzed 35 widely distributed, polymorphic Alu loci in 715 individuals from 31 world populations. The average frequency of Alu insertions (the derived state) is lowest in Africa (.42) but is higher and similar in India (.55), Europe (.56), and Asia (.57). A comparison with 30 restriction-site polymorphisms (R...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/318793

    authors: Watkins WS,Ricker CE,Bamshad MJ,Carroll ML,Nguyen SV,Batzer MA,Harpending HC,Rogers AR,Jorde LB

    更新日期:2001-03-01 00:00:00

  • Characterization of the patterns of polymorphism in a "cryptic repeat" reveals a novel type of hypervariable sequence.

    abstract::Alternating purine and pyrimidine repeats (RY(i)) are an abundant source of polymorphism. The subset with long tandem repeats of GT or AC (GT(i)) have been studied extensively, but cryptic RY(i) (i.e., no single tandem repeat predominates) have received little attention. The factor IX gene has a polymorphic cryptic RY...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Jacobson DP,Schmeling P,Sommer SS

    更新日期:1993-08-01 00:00:00

  • WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.

    abstract::Osteogenesis imperfecta (OI) is a heritable disorder that ranges in severity from death in the perinatal period to an increased lifetime risk of fracture. Mutations in COL1A1 and COL1A2, which encode the chains of type I procollagen, result in dominant forms of OI, and mutations in several other genes result in recess...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2013.02.009

    authors: Pyott SM,Tran TT,Leistritz DF,Pepin MG,Mendelsohn NJ,Temme RT,Fernandez BA,Elsayed SM,Elsobky E,Verma I,Nair S,Turner EH,Smith JD,Jarvik GP,Byers PH

    更新日期:2013-04-04 00:00:00

  • Genomewide linkage analysis identifies polymorphism in the human interferon-gamma receptor affecting Helicobacter pylori infection.

    abstract::Helicobacter pylori is considered the most prevalent infectious agent among humans, and it causes gastric inflammation, gastroduodenal ulcers, and a risk of gastric cancer. We performed a genomewide linkage analysis among Senegalese siblings phenotyped for H. pylori-reactive serum immunoglobulin G. A multipoint LOD sc...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/367714

    authors: Thye T,Burchard GD,Nilius M,Müller-Myhsok B,Horstmann RD

    更新日期:2003-02-01 00:00:00

  • Bayesian mapping of quantitative trait loci for multiple complex traits with the use of variance components.

    abstract::Complex traits important for humans are often correlated phenotypically and genetically. Joint mapping of quantitative-trait loci (QTLs) for multiple correlated traits plays an important role in unraveling the genetic architecture of complex traits. Compared with single-trait analysis, joint mapping addresses more que...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/519495

    authors: Liu J,Liu Y,Liu X,Deng HW

    更新日期:2007-08-01 00:00:00

  • Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

    abstract::Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder characterized by muscle weakness and the presence of nemaline bodies (rods) in skeletal muscle. Disease-causing mutations have been reported in five genes, each encoding a protein component of the sarcomeric thin filament. Recently, we ident...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/320605

    authors: Ilkovski B,Cooper ST,Nowak K,Ryan MM,Yang N,Schnell C,Durling HJ,Roddick LG,Wilkinson I,Kornberg AJ,Collins KJ,Wallace G,Gunning P,Hardeman EC,Laing NG,North KN

    更新日期:2001-06-01 00:00:00

  • Imputing Phenotypes for Genome-wide Association Studies.

    abstract::Genome-wide association studies (GWASs) have been successful in detecting variants correlated with phenotypes of clinical interest. However, the power to detect these variants depends on the number of individuals whose phenotypes are collected, and for phenotypes that are difficult to collect, the sample size might be...

    journal_title:American journal of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1016/j.ajhg.2016.04.013

    authors: Hormozdiari F,Kang EY,Bilow M,Ben-David E,Vulpe C,McLachlan S,Lusis AJ,Han B,Eskin E

    更新日期:2016-07-07 00:00:00

  • BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2.

    abstract::In order to evaluate the role of inherited BRCA2 mutations in American families--particularly the appearance in America of European founder mutations--the BRCA2 coding sequence, 5' UTR, and 3' UTR were screened in 22 Caucasian American kindreds with four or more cases of breast or ovarian cancer. Six mutations were fo...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Schubert EL,Lee MK,Mefford HC,Argonza RH,Morrow JE,Hull J,Dann JL,King MC

    更新日期:1997-05-01 00:00:00

  • Homozygosity for Pc 1 Duarte-like protein in primates and other animals.

    abstract::Pc 1 Duarte is a mutant brain protein present in 32% of the normal human population with 2.6% being homozygous. Preliminary studies suggest an increased frequency of this mutation in individuals with affective disease. To determine if this mutant was present in primates, 32 fetal (wild)-born baboons were examined. All...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Comings DE,Jalanko A,Kuehl TJ

    更新日期:1981-01-01 00:00:00

  • High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.

    abstract::Autosomal-recessive high-grade axial myopia was diagnosed in Bedouin Israeli consanguineous kindred. Some affected individuals also had variable expressivity of early-onset cataracts, peripheral vitreo-retinal degeneration, and secondary sight loss due to severe retinal detachments. Through genome-wide linkage analysi...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2011.08.003

    authors: Mordechai S,Gradstein L,Pasanen A,Ofir R,El Amour K,Levy J,Belfair N,Lifshitz T,Joshua S,Narkis G,Elbedour K,Myllyharju J,Birk OS

    更新日期:2011-09-09 00:00:00

  • Patterns of maternal transmission in bipolar affective disorder.

    abstract::The mode of inheritance of bipolar affective disorder (BPAD) appears complex, and non-Mendelian models of inheritance have been postulated. Two non-Mendelian phenomena, genomic imprinting and mitochondrial inheritance, may contribute to the complex inheritance pattern seen in BPAD. Both imprinting and mitochondrial in...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: McMahon FJ,Stine OC,Meyers DA,Simpson SG,DePaulo JR

    更新日期:1995-06-01 00:00:00

  • Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome.

    abstract::A black family with two male infants affected with the X-linked Lowe syndrome was studied. All three females in the pedigree were found to be carriers on the basis of lenticular opacities. Each female had one son. Of these, two were affected and one was unaffected. The Xg blood-group locus and the G6PD locus were dete...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Hittner HM,Carroll AJ,Prchal JT

    更新日期:1982-11-01 00:00:00

  • A collection of ordered tetranucleotide-repeat markers from the human genome. The Utah Marker Development Group.

    abstract::A collection of 1,069 human PCR-based genetic markers has been developed, and their distribution over the 22 autosomes and the X chromosome has been determined. Each marker was developed around a short-tandem-repeat DNA sequence. The majority (85%) of the markers described here were selected to contain tetranucleotide...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors:

    更新日期:1995-09-01 00:00:00

  • Chromosomal localization of a human band 3-like gene to region 7q35----7q36.

    abstract::Band 3, the major transmembrane protein of erythrocytes, mediates the exchange of anions across the membrane and anchors the erythroid membrane skeleton. Proteins immunologically related to Band 3 have been detected in a variety of nonerythroid cells. We have isolated a human cDNA clone that encodes a protein related ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Palumbo AP,Isobe M,Huebner K,Shane S,Rovera G,Demuth D,Curtis PJ,Ballantine M,Croce CM,Showe LC

    更新日期:1986-09-01 00:00:00

  • Genotyping Array Design and Data Quality Control in the Million Veteran Program.

    abstract::The Million Veteran Program (MVP), initiated by the Department of Veterans Affairs (VA), aims to collect biosamples with consent from at least one million veterans. Presently, blood samples have been collected from over 800,000 enrolled participants. The size and diversity of the MVP cohort, as well as the availabilit...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2020.03.004

    authors: Hunter-Zinck H,Shi Y,Li M,Gorman BR,Ji SG,Sun N,Webster T,Liem A,Hsieh P,Devineni P,Karnam P,Gong X,Radhakrishnan L,Schmidt J,Assimes TL,Huang J,Pan C,Humphries D,Brophy M,Moser J,Muralidhar S,Huang GD,Przygod

    更新日期:2020-04-02 00:00:00

  • The phylogeography of Brazilian Y-chromosome lineages.

    abstract::We examined DNA polymorphisms in the nonrecombining portion of the Y-chromosome to investigate the contribution of distinct patrilineages to the present-day white Brazilian population. Twelve unique-event polymorphisms were typed in 200 unrelated males from four geographical regions of Brazil and in 93 Portuguese male...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/316931

    authors: Carvalho-Silva DR,Santos FR,Rocha J,Pena SD

    更新日期:2001-01-01 00:00:00

  • A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.

    abstract::Autosomal-recessive congenital ichthyoses represent a large and heterogeneous group of disorders of epidermal cornification. Recent data suggest that most of these disorders might result from defective lipid transport and metabolism. In the present study, we describe a late-onset form of recessive ichthyosis in a larg...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2011.02.011

    authors: Israeli S,Khamaysi Z,Fuchs-Telem D,Nousbeck J,Bergman R,Sarig O,Sprecher E

    更新日期:2011-04-08 00:00:00

  • Identification of two cosmids derived from within chromosomal band 3p21.1 that contain clusters of rare restriction sites and evolutionarily conserved sequences.

    abstract::We have isolated large numbers of human recombinants from a cosmid library constructed from an interspecific (hamster/human) somatic cell hybrid whose only human component is an intact chromosome 3. Unique sequence probes were isolated from these recombinants and were used to localize them along the length of chromoso...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Smith DI,Golembieski W,Drabkin H,Kiousis S

    更新日期:1989-09-01 00:00:00

  • Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

    abstract::Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2010.12.002

    authors: Abouzeid H,Boisset G,Favez T,Youssef M,Marzouk I,Shakankiry N,Bayoumi N,Descombes P,Agosti C,Munier FL,Schorderet DF

    更新日期:2011-01-07 00:00:00

  • Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

    abstract::EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and c.2008T>G in EXTL3 in nine affected individ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2017.01.013

    authors: Oud MM,Tuijnenburg P,Hempel M,van Vlies N,Ren Z,Ferdinandusse S,Jansen MH,Santer R,Johannsen J,Bacchelli C,Alders M,Li R,Davies R,Dupuis L,Cale CM,Wanders RJA,Pals ST,Ocaka L,James C,Müller I,Lehmberg K,Strom T

    更新日期:2017-02-02 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

  • Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

    abstract::The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal microduplication syndrome described--the homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microde...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/512864

    authors: Potocki L,Bi W,Treadwell-Deering D,Carvalho CM,Eifert A,Friedman EM,Glaze D,Krull K,Lee JA,Lewis RA,Mendoza-Londono R,Robbins-Furman P,Shaw C,Shi X,Weissenberger G,Withers M,Yatsenko SA,Zackai EH,Stankiewicz P,Lupsk

    更新日期:2007-04-01 00:00:00

  • Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.

    abstract::Haplotype analysis was conducted on the mutant allele of 14 unrelated subjects heterozygous for a mutation in the codon for amino acid 3500 of human apolipoprotein B100. This mutation is associated with defective binding of low-density lipoprotein to the low-density lipoprotein receptor and with moderate hypercholeste...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Ludwig EH,McCarthy BJ

    更新日期:1990-10-01 00:00:00