当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.

Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.

Abstract：

:Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCOF1 locus has been localized to chromosome 5q32-33.2. In the present study we have used the combined techniques of genetic linkage analysis and fluorescence in situ hybridization (FISH) to more accurately define the TCOF1 critical region. Cosmids IG90 and SPARC, which map to distal 5q, encompass two and one hypervariable microsatellite markers, respectively. The heterozygosity values of these three markers range from .72 to .81. Twenty-two unrelated TCOF1 families have been analyzed for linkage to these markers. There is strong evidence demonstrating linkage to all three markers, the strongest support for positive linkage being provided by haplotyping those markers at the locus encompassed by the cosmid IG90 (Zmax = 19.65; theta = .010). FISH to metaphase chromosomes and interphase nuclei established that IG90 lies centromeric to SPARC. This information combined with the data generated by genetic linkage analysis demonstrated that the TCOF1 locus is closely flanked proximally by IG90 and distally by SPARC.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Dixon MJ,Dixon J,Houseal T,Bhatt M,Ward DC,Klinger K,Landes GM

subject

Has Abstract

pub_date

1993-05-01 00:00:00

pages

907-14

issue

5

eissn

0002-9297

issn

1537-6605

journal_volume

52

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Mapping of Alport syndrome to the long arm of the X chromosome.

    abstract：:Five X-chromosome DNA markers were typed on 261 members of three large kindreds with Alport syndrome (hereditary glomerulonephritis). Lod scores greater than 3.0 for linkage between the disease locus and two of the markers confirmed X-linked inheritance of the disease. A decreasing gradient in the estimated recombinat...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Atkin CL,Hasstedt SJ,Menlove L,Cannon L,Kirschner N,Schwartz C,Nguyen K,Skolnick M

    更新日期：1988-02-01 00:00:00

  • Liver transplantation for hereditary tyrosinemia: the Quebec experience.

    abstract：:Sixteen tyrosinemic patients were evaluated in our institution for a possible liver transplantation. All patients showed biochemical and/or radiological evidence of liver dysfunction. Renal involvement was found to be more abnormal than expected. Seven patients have been transplanted, with two patients receiving a com...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Paradis K,Weber A,Seidman EG,Larochelle J,Garel L,Lenaerts C,Roy CC

    更新日期：1990-08-01 00:00:00

  • The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval.

    abstract：:Recently, a new locus (PARK8) for autosomal dominant parkinsonism has been identified in one large Japanese family. Linkage has been shown to a 16-cM centromeric region of chromosome 12, between markers D12S1631 and D12S339. We tested 21 white families with Parkinson disease and an inheritance pattern compatible with ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/380647

    authors： Zimprich A,Müller-Myhsok B,Farrer M,Leitner P,Sharma M,Hulihan M,Lockhart P,Strongosky A,Kachergus J,Calne DB,Stoessl J,Uitti RJ,Pfeiffer RF,Trenkwalder C,Homann N,Ott E,Wenzel K,Asmus F,Hardy J,Wszolek Z,Gasser T

    更新日期：2004-01-01 00:00:00

  • The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.

    abstract：:The dominant cerebellar ataxias (ADCAs) represent a clinically and genetically heterogeneous group of disorders linked by progressive deterioration in balance and coordination. The utility of genetic classification of the ADCAs has been highlighted by the striking variability in clinical phenotype observed within fami...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Geschwind DH,Perlman S,Figueroa CP,Treiman LJ,Pulst SM

    更新日期：1997-04-01 00:00:00

  • Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

    abstract：:Many individuals with abnormalities of mitochondrial respiratory chain complex III remain genetically undefined. Here, we report mutations (c.288G>T [p.Trp96Cys] and c.643C>T [p.Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoa...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.06.015

    authors： Gaignard P,Menezes M,Schiff M,Bayot A,Rak M,Ogier de Baulny H,Su CH,Gilleron M,Lombes A,Abida H,Tzagoloff A,Riley L,Cooper ST,Mina K,Sivadorai P,Davis MR,Allcock RJ,Kresoje N,Laing NG,Thorburn DR,Slama A,Christo

    更新日期：2013-08-08 00:00:00

  • Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

    abstract：:Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and alternative treatment strategies are urgently required. Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large c...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.02.010

    authors： Zarouchlioti C,Sanchez-Pintado B,Hafford Tear NJ,Klein P,Liskova P,Dulla K,Semo M,Vugler AA,Muthusamy K,Dudakova L,Levis HJ,Skalicka P,Hysi P,Cheetham ME,Tuft SJ,Adamson P,Hardcastle AJ,Davidson AE

    更新日期：2018-04-05 00:00:00

  • Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.

    abstract：:Fragile X premutations are considered to be a risk factor for premature ovarian failure (POF), which is usually defined as menopause at age <40 years. Since premutations may be inherited from either the mother or the father, we evaluated the influence of the inheritance pattern on the duration of reproductive life in ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302774

    authors： Hundscheid RD,Sistermans EA,Thomas CM,Braat DD,Straatman H,Kiemeney LA,Oostra BA,Smits AP

    更新日期：2000-02-01 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

  • Genomewide linkage scan identifies a novel susceptibility locus for restless legs syndrome on chromosome 9p.

    abstract：:Restless legs syndrome (RLS) is a common neurological disorder that affects 5%-12% of all whites. To genetically dissect this complex disease, we characterized 15 large and extended multiplex pedigrees, consisting of 453 subjects (134 affected with RLS). A familial aggregation analysis was performed, and SAGE FCOR was...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/420772

    authors： Chen S,Ondo WG,Rao S,Li L,Chen Q,Wang Q

    更新日期：2004-05-01 00:00:00

  • Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.

    abstract：:X chromosome inactivation results in the random transcriptional silencing of one of the two X chromosomes early in female development. After random inactivation, certain deleterious X-linked mutations can create a selective disadvantage for cells in which the mutation is on the active X chromosome, leading to X inacti...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302286

    authors： Plenge RM,Tranebjaerg L,Jensen PK,Schwartz C,Willard HF

    更新日期：1999-03-01 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

  • Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

    abstract：:Interleukin-12 (IL12) is a cytokine that is secreted by activated phagocytes and dendritic cells and that induces interferon-gamma production by natural-killer and T lymphocytes. It consists of two subunits, p35 and p40, which are encoded by IL12A and IL12B, respectively. The first reported patient with a genetic cyto...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338625

    authors： Picard C,Fieschi C,Altare F,Al-Jumaah S,Al-Hajjar S,Feinberg J,Dupuis S,Soudais C,Al-Mohsen IZ,Génin E,Lammas D,Kumararatne DS,Leclerc T,Rafii A,Frayha H,Murugasu B,Wah LB,Sinniah R,Loubser M,Okamoto E,Al-Ghonaium

    更新日期：2002-02-01 00:00:00

  • Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait.

    abstract：:Age-related hearing impairment (ARHI), or presbycusis, is a very common multifactorial disorder. Despite the knowledge that genetics play an important role in the etiology of human ARHI as revealed by heritability studies, to date, its precise genetic determinants remain elusive. Here we report the results of a cross-...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2008.08.002

    authors： Huyghe JR,Van Laer L,Hendrickx JJ,Fransen E,Demeester K,Topsakal V,Kunst S,Manninen M,Jensen M,Bonaconsa A,Mazzoli M,Baur M,Hannula S,Mäki-Torkko E,Espeso A,Van Eyken E,Flaquer A,Becker C,Stephens D,Sorri M,Orzan

    更新日期：2008-09-01 00:00:00

  • Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26.

    abstract：:Moyamoya disease is characterized by bilateral stenosis and/or occlusion of the terminal portion of the internal carotid artery. Moyamoya disease is prevalent among patients <10 years of age. Although most cases appear to be sporadic, approximately 10% occur as familial cases. The incidence of familial cases has been ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302243

    authors： Ikeda H,Sasaki T,Yoshimoto T,Fukui M,Arinami T

    更新日期：1999-02-01 00:00:00

  • Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

    abstract：:Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced myopathies, exercise-induced cramps, and inherited myasthenia, but also exist as a pure genetic form characterized by slowly p...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.12.007

    authors： Böhm J,Chevessier F,Maues De Paula A,Koch C,Attarian S,Feger C,Hantaï D,Laforêt P,Ghorab K,Vallat JM,Fardeau M,Figarella-Branger D,Pouget J,Romero NB,Koch M,Ebel C,Levy N,Krahn M,Eymard B,Bartoli M,Laporte J

    更新日期：2013-02-07 00:00:00

  • CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

    abstract：:Idiopathic scoliosis (IS) is the most common spinal deformity in children, and its etiology is unknown. To refine the search for genes underlying IS susceptibility, we ascertained a new cohort of 52 families and conducted a follow-up study of genomewide scans that produced evidence of linkage and association with 8q12...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/513571

    authors： Gao X,Gordon D,Zhang D,Browne R,Helms C,Gillum J,Weber S,Devroy S,Swaney S,Dobbs M,Morcuende J,Sheffield V,Lovett M,Bowcock A,Herring J,Wise C

    更新日期：2007-05-01 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

  • 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

  • Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.

    abstract：:Thiamine-responsive megaloblastic anemia, also known as "TRMA" or "Rogers syndrome," is an early-onset autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment. On the basis of a linkage analysis o...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301642

    authors： Neufeld EJ,Mandel H,Raz T,Szargel R,Yandava CN,Stagg A,Fauré S,Barrett T,Buist N,Cohen N

    更新日期：1997-12-01 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

  • 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

  • Human monoamine oxidase A gene determines levels of enzyme activity.

    abstract：:Monoamine oxidase (MAO) is a critical enzyme in the degradative deamination of biogenic amines throughout the body. Two biochemically distinct forms of the enzyme, A and B, are encoded in separate genes on the human X chromosome. In these studies we investigated the role of the structural gene for MAO-A in determining...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hotamisligil GS,Breakefield XO

    更新日期：1991-08-01 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

  • A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

    abstract：:Studies in mouse and chick have shown that the 5' HoxD genes play major roles in the development of the limbs and genitalia. In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (SPD). Haploinsufficiency for the 5' HOXD genes has recently been proposed to underlie the monodact...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338921

    authors： Goodman FR,Majewski F,Collins AL,Scambler PJ

    更新日期：2002-02-01 00:00:00

  • Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.

    abstract：:We recently reported that a sequence variant in the cell-cycle-checkpoint kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer-susceptibility allele in noncarriers of BRCA1 or BRCA2 mutations. To investigate whether other CHEK2 variants confer susceptibility to breast cancer, we screened the full CHEK2 codi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/373965

    authors： Schutte M,Seal S,Barfoot R,Meijers-Heijboer H,Wasielewski M,Evans DG,Eccles D,Meijers C,Lohman F,Klijn J,van den Ouweland A,Futreal PA,Nathanson KL,Weber BL,Easton DF,Stratton MR,Rahman N,Breast Cancer Linkage Consortiu

    更新日期：2003-04-01 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

  • Intracranial aneurysms in Finnish families: confirmation of linkage and refinement of the interval to chromosome 19q13.3.

    abstract：:We recently reported a two-stage genomewide screen of 48 sib pairs affected with intracranial aneurysms (IAs) that revealed suggestive linkage to chromosome 19q13, with a LOD score of 2.58. The region supporting linkage spanned approximately 22 cM. Here, we report a follow-up study of the locus at 19q13, with a sample...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/382285

    authors： van der Voet M,Olson JM,Kuivaniemi H,Dudek DM,Skunca M,Ronkainen A,Niemelä M,Jääskeläinen J,Hernesniemi J,Helin K,Leinonen E,Biswas M,Tromp G

    更新日期：2004-03-01 00:00:00

  • New founder haplotypes at the myotonic dystrophy locus in southern Africa.

    abstract：:The association between normal alleles at the CTG repeat and two nearby polymorphisms in the myotonin protein kinase gene, the Alu insertion/deletion polymorphism and the myotonic dystrophy kinase (DMK)(G/T) intron 9/HinfI polymorphism, has been analyzed in South African Negroids, a population in which myotonic dystro...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Goldman A,Ramsay M,Jenkins T

    更新日期：1995-06-01 00:00:00

  • A cell hybrid and recombinant DNA library that facilitate identification of polymorphic loci in the vicinity of the Huntington disease gene.

    abstract：:Somatic cell hybrids were selected that retain a derivative chromosome 5 from an individual in which the p15.1-pter segment of chromosome 5 is replaced with the p15.1-pter segment of chromosome 4. Hybrids that retain this derivative chromosome exclusively were found to be positive for G8, a DNA marker closely linked t...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Wasmuth JJ,Carlock LR,Smith B,Immken LL

    更新日期：1986-09-01 00:00:00

  • Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.

    abstract：:The etiology of acquired partial lipodystrophy (APL, also called "Barraquer-Simons syndrome") is unknown. Genomic DNA mutations affecting the nuclear lamina protein lamin A cause inherited partial lipodystrophy but are not found in patients with APL. Because it also encodes a nuclear lamina protein (lamin B2) and its ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/505885

    authors： Hegele RA,Cao H,Liu DM,Costain GA,Charlton-Menys V,Rodger NW,Durrington PN

    更新日期：2006-08-01 00:00:00