THE CYTOGENETICS OF ATAXIA TELANGIECTASIA

被引：105

作者：

KOJIS, TL

GATTI, RA

SPARKES, RS

机构：

[1] UNIV CALIF LOS ANGELES,DEPT MED,LOS ANGELES,CA 90024

[2] UNIV CALIF LOS ANGELES,DEPT PATHOL,LOS ANGELES,CA 90024

来源：

CANCER GENETICS AND CYTOGENETICS | 1991年 / 56卷 / 02期

关键词：

D O I：

10.1016/0165-4608(91)90164-P

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Ataxia-telangiectasia (AT) is a heterogeneous autosomal recessive disorder marked by cerebellar ataxia, oculocutaneous telangiectases, hypersensitivity to ionizing radiation, immunodeficiency, and cancer susceptibility. AT is also a spontaneous chromosomal breakage syndrome, notable for tissue-specific cytogenetic changes and telomeric fusions. Molecular characterization of rearrangements specific to T-lymphocytes suggests that a DNA repair/processing defect is potentially responsible for the diverse array of chromosomal abnormalities observed in a variety of AT cell types.

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页码：143 / 156

页数：14

相关论文

共 83 条

[1]

ALSAADI A, 1980, HUM GENET, V55, P23

[2]

AURIAS A, 1981, J GENET HUM, V29, P235

[3] TANDEM TRANSLOCATION T(14,14) IN ISOLATED AND CLONAL CELLS IN ATAXIA TELANGIECTASIA ARE DIFFERENT [J].

AURIAS, A ;

DUTRILLAUX, B ;

GRISCELLI, C .

HUMAN GENETICS, 1983, 63 (04) :320-322

[4] HIGH-FREQUENCIES OF INVERSIONS AND TRANSLOCATIONS OF CHROMOSOMES 7 AND 14 IN ATAXIA TELANGIECTASIA [J].

AURIAS, A ;

DUTRILLAUX, B ;

BURIOT, D ;

LEJEUNE, J .

MUTATION RESEARCH, 1980, 69 (02) :369-374

[5] PROBABLE INVOLVEMENT OF IMMUNOGLOBULIN SUPERFAMILY GENES IN MOST RECURRENT CHROMOSOMAL REARRANGEMENTS FROM ATAXIA TELANGIECTASIA [J].

AURIAS, A ;

DUTRILLAUX, B .

HUMAN GENETICS, 1986, 72 (03) :210-214

[6] INVERSION (14) (Q12QTER) OR (Q11.2Q32.3) - THE MOST FREQUENTLY ACQUIRED REARRANGEMENT IN LYMPHOCYTES [J].

AURIAS, A ;

COUTURIER, J ;

DUTRILLAUX, AM ;

DUTRILLAUX, B ;

HERPIN, F ;

LAMOLIATTE, E ;

LOMBARD, M ;

MULERIS, M ;

PARAVATOU, M ;

PRIEUR, M ;

PRODHOMME, M ;

SPORTES, M ;

VIEGASPEQUIGNOT, E ;

VOLOBOUEV, V .

HUMAN GENETICS, 1985, 71 (01) :19-21

[7] NEW DATA ON CLONAL ANOMALIES OF CHROMOSOME-14 IN ATAXIA TELANGIECTASIA - TCT(14-14) AND INV(14) [J].

AURIAS, A ;

CROQUETTE, MF ;

NUYTS, JP ;

GRISCELLI, C ;

DUTRILLAUX, B .

HUMAN GENETICS, 1986, 72 (01) :22-24

[8] THE MECHANISM OF CHROMOSOME-14 INVERSION IN A HUMAN T-CELL LYMPHOMA [J].

BAER, R ;

FORSTER, A ;

RABBITTS, TH .

CELL, 1987, 50 (01) :97-105

[9] THE BREAKPOINT OF AN INVERSION OF CHROMOSOME-14 IN A T-CELL LEUKEMIA - SEQUENCES DOWNSTREAM OF THE IMMUNOGLOBULIN HEAVY-CHAIN LOCUS ARE IMPLICATED IN TUMORIGENESIS [J].

BAER, R ;

HEPPELL, A ;

TAYLOR, AMR ;

RABBITTS, PH ;

BOULLIER, B ;

RABBITTS, TH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (24) :9069-9073

[10] FUSION OF AN IMMUNOGLOBULIN VARIABLE GENE AND A T-CELL RECEPTOR CONSTANT GENE IN THE CHROMOSOME-14 INVERSION ASSOCIATED WITH T-CELL TUMORS [J].

BAER, R ;

CHEN, KC ;

SMITH, SD ;

RABBITTS, TH .

CELL, 1985, 43 (03) :705-713

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