CHARACTERIZATION OF DELETIONS AT THE RETINOBLASTOMA LOCUS IN PATIENTS WITH BILATERAL RETINOBLASTOMA

被引：37

作者：

KLOSS, K

WAHRISCH, P

GREGER, V

MESSMER, E

FRITZE, H

HOPPING, W

PASSARGE, E

HORSTHEMKE, B

机构：

[1] UNIV ESSEN GESAMTHSCH KLINIKUM,INST HUMANGENET,HUFELANDSTR 55,W-4300 ESSEN 1,GERMANY

[2] UNIV ESSEN GESAMTHSCH KLINIKUM,ZENTRUM AUGENHEILKUNDE,W-4300 ESSEN 1,GERMANY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 02期

关键词：

RB-1; GENE; SOUTHERN BLOT PATTERNS; CDNA;

D O I：

10.1002/ajmg.1320390215

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

DNA samples from 92 unrelated patients with bilateral retinoblastoma were analyzed by Southern blot hybridization with cDNA and genomic clones of the retinoblastoma (RB-1) gene. Qualitative and quantitative evaluation of the Southern blot patterns showed a deletion of all or part of the RB-1 gene in 15 patients. Deletion hot spots were not detected. The study shows that 16% of germ cell mutations are detectable by Southern blot hybridization, but that densitometric analysis is required in most cases.

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页码：196 / 200

页数：5

相关论文

共 24 条

[1] HUMAN RETINOBLASTOMA SUSCEPTIBILITY GENE - GENOMIC ORGANIZATION AND ANALYSIS OF HETEROZYGOUS INTRAGENIC DELETION MUTANTS [J].

BOOKSTEIN, R ;

LEE, EYHP ;

TO, H ;

YOUNG, LJ ;

SERY, TW ;

HAYES, RC ;

FRIEDMANN, T ;

LEE, WH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (07) :2210-2214

[2] SHORT, DIRECT REPEATS AT THE BREAKPOINTS OF DELETIONS OF THE RETINOBLASTOMA GENE [J].

CANNING, S ;

DRYJA, TP .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (13) :5044-5048

[3]

CAVENEE W, 1984, AM J HUM GENET, V36, P10

[4] PREDICTION OF FAMILIAL PREDISPOSITION TO RETINOBLASTOMA [J].

CAVENEE, WK ;

MURPHREE, AL ;

SHULL, MM ;

BENEDICT, WF ;

SPARKES, RS ;

KOCK, E ;

NORDENSKJOLD, M .

NEW ENGLAND JOURNAL OF MEDICINE, 1986, 314 (19) :1201-1207

[5] MOLECULAR-DETECTION OF DELETIONS INVOLVING BAND Q14 OF CHROMOSOME-13 IN RETINOBLASTOMAS [J].

DRYJA, TP ;

RAPAPORT, JM ;

JOYCE, JM ;

PETERSEN, RA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (19) :7391-7394

[6] IDENTIFICATION OF GERMLINE AND SOMATIC MUTATIONS AFFECTING THE RETINOBLASTOMA GENE [J].

DUNN, JM ;

PHILLIPS, RA ;

BECKER, AJ ;

GALLIE, BL .

SCIENCE, 1988, 241 (4874) :1797-1800

[7] A HUMAN DNA SEGMENT WITH PROPERTIES OF THE GENE THAT PREDISPOSES TO RETINOBLASTOMA AND OSTEOSARCOMA [J].

FRIEND, SH ;

BERNARDS, R ;

ROGELJ, S ;

WEINBERG, RA ;

RAPAPORT, JM ;

ALBERT, DM ;

DRYJA, TP .

NATURE, 1986, 323 (6089) :643-646

[8]

GODDARD AD, 1990, CLIN GENET, V37, P117

[9] INFREQUENT GENOMIC REARRANGEMENT AND NORMAL EXPRESSION OF THE PUTATIVE RB1 GENE IN RETINOBLASTOMA TUMORS [J].

GODDARD, AD ;

BALAKIER, H ;

CANTON, M ;

DUNN, J ;

SQUIRE, J ;

REYES, E ;

BECKER, A ;

PHILLIPS, RA ;

GALLIE, BL .

MOLECULAR AND CELLULAR BIOLOGY, 1988, 8 (05) :2082-2088

[10] APPLICATION OF LINKAGE ANALYSIS TO GENETIC-COUNSELING IN FAMILIES WITH HEREDITARY RETINOBLASTOMA [J].

GREGER, V ;

KERST, S ;

MESSMER, E ;

HOPPING, W ;

PASSARGE, E ;

HORSTHEMKE, B .

JOURNAL OF MEDICAL GENETICS, 1988, 25 (04) :217-221