当前位置： SCI文献检索 > HUMAN GENETICS期刊下所有文献 > Molecular characterization of different ataxia telangiectasia T-cell clones. I. A common breakpoint at the 14q11.2 band splits the T-cell receptor alpha-chain gene.

Molecular characterization of different ataxia telangiectasia T-cell clones. I. A common breakpoint at the 14q11.2 band splits the T-cell receptor alpha-chain gene.

Abstract：

:Using in situ chromosomal hybridization we have mapped the gene for the T-cell receptor alpha-chain in three different non-malignant T-cell clones occurring in ataxia telangiectasia. The constant region was translocated in each of the three clones. The variable region remained in its original position in two cases and was deleted in one clone which lost the derivative chromosome 14. We have therefore demonstrated that the T-cell receptor alpha-gene is split in at least two of these translocations. To our knowledge, this is the first direct evidence of the involvement of a gene from the immunoglobulin superfamily in chromosomal rearrangements in ataxia telangiectasia.

journal_name

Hum Genet

journal_title

Human genetics

authors

Stern MH,Zhang FR,Griscelli C,Thomas G,Aurias A

doi

10.1007/BF00291230

subject

Has Abstract

pub_date

1988-01-01 00:00:00

pages

33-6

issue

1

eissn

0340-6717

issn

1432-1203

journal_volume

78

pub_type

杂志文章

相关文献

HUMAN GENETICS文献大全
  • X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female.

    abstract：:A de novo translocation (X;1)(q13.1;p36.33) was found in a 2-year-old girl with typical clinical features of X-linked anhidrotic ectodermal dysplasia (EDA). The breakpoint at Xq13.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00200916

    authors： Limon J,Filipiuk J,Nedoszytko B,Mrózek K,Castrén M,Larramendy M,Roszkiewicz J

    更新日期：1991-07-01 00:00:00

  • Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-22.2).

    abstract：:We have screened fourteen kindreds with X-linked hypophosphataemic rickets with four microsatellite markers, viz AFM163yh2, DXS999 (AFM234yf12), DXS443 and DXS365, in order to refine the genetic map flanking the gene, and to define a close flanking interval for the construction of a yeast artificial chromosome (YAC) a...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00212025

    authors： Rowe PS,Goulding J,Read A,Lehrach H,Francis F,Hanauer A,Oudet C,Biancalana V,Kooh SW,Davies KE

    更新日期：1994-03-01 00:00:00

  • A woman carrier of two apparently unrelated reciprocal translocations: prenatal diagnosis of normal karyotype in the foetus.

    abstract：:Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00291917

    authors： Simoni G,Montali E,Rossella F,Dalprà L,Lo Curto F

    更新日期：1979-01-25 00:00:00

  • Mutant forms of erythrocyte glucose 6-phosphate dehydrogenase in Ashkenazi. Description of two new variants: G6PD Kirovograd and G6PD Zhitomir.

    abstract：:Two new variants of erythrocyte glucose 6-phosphate dehydrogenase are discovered in 3 unrelated Ashkenazi Jew patients with severe deficiency of enzyme. Both variants have a resemblance to 2 other variants in Ashkenazi: G6PD Boston and G6PD Kilgore, but have a significantly higher affinity for substrates and their ana...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00281892

    authors： Shatskaya TL,Krasnopolskaya KD,Idelson LJ

    更新日期：1976-07-27 00:00:00

  • Assignment of the human ST2 gene to chromosome 2 at q11.2.

    abstract：:The human St2 locus has been assigned to chromosome 2, using a human ST2 cDNA clone, by a human/rodent somatic cel hybrid mapping panel. The St2 locus has also been mapped to chromosome 2q11.2, using a human ST2 genomic DNA clone, by in situ hybridization. The locus is very tightly linked to the Il-1r1 locus. Together...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF02281860

    authors： Tominaga S,Inazawa J,Tsuji S

    更新日期：1996-05-01 00:00:00

  • Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach.

    abstract：:Genomic disorders are human diseases caused by meiotic chromosomal rearrangements of unstable regions flanked by Low Copy Repeats (LCRs). LCRs act as substrates for Non-Allelic Homologous Recombination (NAHR) leading to deletions and duplications. The aim of this study was to assess the basal frequency of deletions an...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-010-0894-4

    authors： Molina O,Anton E,Vidal F,Blanco J

    更新日期：2011-01-01 00:00:00

  • High resolution multicolor fluorescence in situ hybridization using cyanine and fluorescein dyes: rapid chromosome identification by directly fluorescently labeled alphoid DNA probes.

    abstract：:We tested DNA probes directly labeled by fluorescently labeled nucleotides (Cy3-dCTP, Cy5-dCTP, FluorX-dCTP) for high resolution uni- and multicolor detection of human chromosomes and analysis of centromeric DNA organization by in situ hybridization. Alpha-satellite DNA probes specific to chromosomes 1, 2, 3, 4 + 9, 5...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF02185780

    authors： Yurov YB,Soloviev IV,Vorsanova SG,Marcais B,Roizes G,Lewis R

    更新日期：1996-03-01 00:00:00

  • Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.

    abstract：:Beta-2 microglobulin (B2M) is a component of the major histocompatibility complex (MHC) class I molecule and has been studied as a biomarker of kidney function, cardiovascular diseases and mortality. Little is known about the genes influencing its levels directly or through glomerular filtration rate (GFR). We conduct...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-013-1274-7

    authors： Tin A,Astor BC,Boerwinkle E,Hoogeveen RC,Coresh J,Kao WH

    更新日期：2013-06-01 00:00:00

  • Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression.

    abstract：:Genome-wide association studies (GWAS) have identified a large number of disease-associated SNPs, but in few cases the functional variant and the gene it controls have been identified. To systematically identify candidate regulatory variants, we sequenced ENCODE cell lines and used public ChIP-seq data to look for tra...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-016-1654-x

    authors： Cavalli M,Pan G,Nord H,Wallerman O,Wallén Arzt E,Berggren O,Elvers I,Eloranta ML,Rönnblom L,Lindblad Toh K,Wadelius C

    更新日期：2016-05-01 00:00:00

  • C'3 polymorphism in Italy.

    abstract：:C'3 phenotype and gene frequencies observed in two Italian samples are reported. The allele frequencies resemble those reported for other Caucasian populations. Five different rare variants are described. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00321026

    authors： Scacchi R,Corbo RM,Spennati G,Palmarino R

    更新日期：1979-04-05 00:00:00

  • A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

    abstract：:Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP). The seven proteins that have been identified for Usher syndrome type 1 (USH1) and type 2 (USH2) may interact in a large protein comple...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-006-0304-0

    authors： Ebermann I,Scholl HP,Charbel Issa P,Becirovic E,Lamprecht J,Jurklies B,Millán JM,Aller E,Mitter D,Bolz H

    更新日期：2007-04-01 00:00:00

  • Three glucose 6-phosphate dehydrogenase variants found in Japan.

    abstract：:Three Japanese glucose 6-phosphate dehydrogenase (G6PD) variants were investigated. G6PD 'Mediterranean-like' had markedly decreased activity, normal electrophoretic mobility, low Km G6P, low Km NADP, increased utilization of all three substrate analogues (2-deoxy-G6P, Gal-6P, and deamino-NADP) and slightly decreased ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00446284

    authors： Miwa SH,Nakashima K,Ono J,Fujii H,Suzuki E

    更新日期：1977-05-10 00:00:00

  • Linkage mapping of the tumor necrosis factor receptor 2 (TNFR2) gene to 1p36.2 using the single-strand conformation polymorphism technique.

    abstract：:We identified two informative polymorphisms in the transcribed 3' untranslated region of the tumor necrosis factor receptor 2 (TNFR2) gene using the polymerase chain reaction (PCR) with the single-strand conformation polymorphism (SSCP) technique. These polymorphisms demonstrated Mendelian inheritance and were useful ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00201604

    authors： Kaufman BA,White PS,Steinbrueck T,Donis-Keller H,Brodeur GM

    更新日期：1994-10-01 00:00:00

  • A genome screen for linkage disequilibrium in HLA-DRB1*15-positive Germans with multiple sclerosis based on 4666 microsatellite markers.

    abstract：:Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system with putative autoimmune aetiology and complex genetic background. Here, we report the results of a genome screen for linkage disequilibrium (LD) by using 6000 microsatellite markers in 198 HLA-DRB1*15-positive MS patients and 198 unrela...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-002-0801-8

    authors： Goedde R,Sawcer S,Boehringer S,Miterski B,Sindern E,Haupts M,Schimrigk S,Compston A,Epplen JT

    更新日期：2002-09-01 00:00:00

  • The association of SNPs in ADIPOQ, ADIPOR1, and ADIPOR2 with insulin sensitivity in a cohort of adolescents and their parents.

    abstract：:Few studies have examined the association of SNPs in the adiponectin (ADIPOQ) and adiponectin receptor 1 and 2 (ADIPOR1, ADIPOR2) genes with the euglycemic clamp, i.e. the gold standard measure of insulin sensitivity. The association of comprehensive tag SNPs in these genes with insulin sensitivity was examined in a c...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-008-0595-4

    authors： Rasmussen-Torvik LJ,Pankow JS,Jacobs DR Jr,Steinberger J,Moran A,Sinaiko AR

    更新日期：2009-02-01 00:00:00

  • A myeloblastin/proteinase-3 cDNA clone identifies a BglII and a PvuII restriction fragment length polymorphism.

    abstract：:A myeloblastin/proteinase-3 (MBN/PR-3) cDNA probe detects two bi-allelic (BglII, PvuII) DNA polymorphisms. These restriction fragment length polymorphisms provide new genetic markers on chromosome 19. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00216465

    authors： Schwaller J,Chen T,Fey MF,Tobler A

    更新日期：1993-11-01 00:00:00

  • X chromosome imprinting in fragile X syndrome.

    abstract：:Laird et al. (1987) hypothesized that there are at least four cis-acting alleles or 'chromosome states' at Xq27 that increasingly delay replication at this chromosomal area resulting in its increasing fragility in vitro. When on the inactive X chromosome, the proposed third ('mutated') allele can permanently block rea...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00193580

    authors： Yu WD,Wenger SL,Steele MW

    更新日期：1990-10-01 00:00:00

  • Molecular characterization of HbH disease in the Cuban population.

    abstract：:Molecular characterization of the alpha-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with alpha- and zeta-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects ca...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00290956

    authors： Martinez G,Ferreira R,Hernandez A,Di Rienzo A,Felicetti L,Colombo B

    更新日期：1986-04-01 00:00:00

  • ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.

    abstract：:Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in the ATM gene. The ATM gene spans more than 150 kb at chromosomal region 11q23.1 and encodes a product of 3,056 amino acids. The ATM protein is a serine/threonine protein kinase and is involved in oxidative stress, cell cycle control,...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-005-1254-7

    authors： Babaei M,Mitui M,Olson ER,Gatti RA

    更新日期：2005-07-01 00:00:00

  • Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.

    abstract：:We describe two polymorphic microsatellites in intron 27 of the neurofibromatosis type 1 (NF1) gene. The microsatellites consist of TG/AC and AC/TG dinucleotide repeats detecting five and seven alleles and with heterozygosities of 0.46 and 0.72, respectively. These microsatellites are useful tools both for direct and ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00212039

    authors： Lázaro C,Gaona A,Estivill X

    更新日期：1994-03-01 00:00:00

  • Chromosomal abnormalities in human sperm: comparisons among four healthy men.

    abstract：:We have used the human-sperm/hamster-egg system to compare the frequencies of structural and numerical chromosomal aberrations in 909 sperm karyotypes from four normal healthy men. The frequency of structural aberrations was 1.3, 4.8, 9.0, and 10.4% respectively in the four donors. Certain specific breakpoints were se...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00286600

    authors： Brandriff B,Gordon L,Ashworth L,Watchmaker G,Carrano A,Wyrobek A

    更新日期：1984-01-01 00:00:00

  • Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

    abstract：:We describe a polymorphic microsatellite (IVS17BCA) in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It consists of an 11 to 20 CA/GT dinucleotide repeat, located 424 bp from exon 17B. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00197276

    authors： Morral N,Girbau E,Zielenski J,Nunes V,Casals T,Tsui LC,Estivill X

    更新日期：1992-01-01 00:00:00

  • Genetic liability to schizophrenia in Oceanic Palau: a search in the affected and maternal generation.

    abstract：:While liability to schizophrenia (Scz) is due to genetic and environmental factors, specific factors are largely unknown. We postulate a two-hit model for Scz, in which initial liability is generated during fetal brain development: this "hit" is precipitated by environmental stressors biologically interacting with mat...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-007-0358-7

    authors： Devlin B,Klei L,Myles-Worsley M,Tiobech J,Otto C,Byerley W,Roeder K

    更新日期：2007-07-01 00:00:00

  • Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations.

    abstract：:Vitamin D inadequacy, assessed by 25-hydroxyvitamin D [25(OH)D], affects around 50% of adults in the United States and is associated with numerous adverse health outcomes. Blood 25(OH)D concentrations are influenced by genetic factors that may determine how much vitamin D intake is required to reach optimal 25(OH)D. D...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-019-02049-x

    authors： Hatchell KE,Lu Q,Hebbring SJ,Michos ED,Wood AC,Engelman CD

    更新日期：2019-10-01 00:00:00

  • Ten families with fragile X syndrome: linkage relationships with four DNA probes from distal Xq.

    abstract：:We present clinical, cytogenetic, and linkage data of four DNA probes from the terminal long arm of the X chromosome in ten new families with fragile X syndrome. A prior/posterior method of multipoint linkage analysis is employed to combine these results with published data to refine the linkage map of terminal Xq. Te...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00284915

    authors： Buchanan JA,Buckton KE,Gosden CM,Newton MS,Clayton JF,Christie S,Hastie N

    更新日期：1987-06-01 00:00:00

  • A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->term) causing recurrent venous thrombosis.

    abstract：:A novel heterozygous TGG-->TAG (Trp-29-->Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00222726

    authors： Millar DS,Grundy CB,Bignell P,Mitchell DC,Corden D,Woods P,Kakkar VV,Cooper DN

    更新日期：1993-03-01 00:00:00

  • Admixture-matched case-control study: a practical approach for genetic association studies in admixed populations.

    abstract：:Case-control genetic association studies in admixed populations are known to be susceptible to genetic confounding due to population stratification. The transmission/disequilibrium test (TDT) approach can avoid this problem. However, the TDT is expensive and impractical for late-onset diseases. Case-control study desi...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-005-0080-2

    authors： Tsai HJ,Kho JY,Shaikh N,Choudhry S,Naqvi M,Navarro D,Matallana H,Castro R,Lilly CM,Watson HG,Meade K,Lenoir M,Thyne S,Ziv E,Burchard EG

    更新日期：2006-01-01 00:00:00

  • A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

    abstract：:The X-linked cyclin-dependent kinase-like 5 (CDKL5) gene is an important molecular determinant of early-onset intractable seizures with infantile spasms and Rett syndrome-like phenotype. The gene encodes a kinase that may influence components of molecular pathways associated with MeCP2. In humans there are two previou...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-011-1058-x

    authors： Williamson SL,Giudici L,Kilstrup-Nielsen C,Gold W,Pelka GJ,Tam PP,Grimm A,Prodi D,Landsberger N,Christodoulou J

    更新日期：2012-02-01 00:00:00

  • Assessment of autosome and gonosome disomy in human sperm nuclei by chromosome painting.

    abstract：:Disomy and diploidy frequencies for autosomes 1-22 and the gonosomes were assessed in 299,442 sperm nuclei from four normal fertile men by chromosome painting. This novel approach allowed us to perform a specific and sensitive detection of each chromosome. A minimum of 5000 sperm nuclei per subject were evaluated for ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050751

    authors： Rives N,Mazurier S,Bellet D,Joly G,Macé B

    更新日期：1998-06-01 00:00:00

  • Geographic homogeneity and non-equilibrium patterns of mtDNA sequences in Tuscany, Italy.

    abstract：:The geographical distribution of 49 mtDNA sequences from 22 localities in Southern Tuscany, Italy, was studied by molecular analysis of variance, by a new spatial autocorrelation statistic specifically designed for sequence data and by reconstructing genealogies of haplotypes. All these methods indicated a high homoge...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050178

    authors： Bertorelle G,Calafell F,Francalacci P,Bertranpetit J,Barbujani G

    更新日期：1996-08-01 00:00:00