Submicroscopic deletions of the APC gene:: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning

被引：13

作者：

Flintoff, KJ ^{[1
]}

Sheridan, E ^{[1
]}

Turner, G ^{[1
]}

Chu, CE ^{[1
]}

Taylor, GR ^{[1
]}

机构：

[1] St Jamess Univ, Teaching Hosp, Dept Clin Genet, Yorkshire Reg DNA Lab, Leeds LS9 7TF, W Yorkshire, England

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 02期

关键词：

D O I：

10.1136/jmg.38.2.129

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：129 / 132

页数：4

共 33 条

[1] Familial adenomatous polyposis (FAP) and its gene, APC [J].

Bodmer, W .

CYTOGENETICS AND CELL GENETICS, 1999, 86 (02) :99-104

[2] LOCALIZATION OF THE GENE FOR FAMILIAL ADENOMATOUS POLYPOSIS ON CHROMOSOME-5 [J].

BODMER, WF ;

BAILEY, CJ ;

BODMER, J ;

BUSSEY, HJR ;

ELLIS, A ;

GORMAN, P ;

LUCIBELLO, FC ;

MURDAY, VA ;

RIDER, SH ;

SCAMBLER, P ;

SHEER, D ;

SOLOMON, E ;

SPURR, NK .

NATURE, 1987, 328 (6131) :614-616

[3]

BORRIELLO F, 1994, DIAGN MOL PATHOL, V3, P246

[4] CA REPEAT POLYMORPHISM AT THE D5S82 LOCUS, PROXIMAL TO ADENOMATOUS POLYPOSIS-COLI (APC) [J].

BREUKEL, C ;

TOPS, C ;

VANLEEUWEN, C ;

VANDERKLIFT, H ;

NAKAMURA, Y ;

FODDE, R ;

KHAN, PM .

NUCLEIC ACIDS RESEARCH, 1991, 19 (20) :5804-5804

[5] AT REPEAT POLYMORPHISM AT THE D5S122 LOCUS TIGHTLY LINKED TO ADENOMATOUS POLYPOSIS-COLI (APC) [J].

BREUKEL, C ;

TOPS, C ;

VANLEEUWEN, C ;

VANDERKLIFT, H ;

FODDE, R ;

KHAN, PM .

NUCLEIC ACIDS RESEARCH, 1991, 19 (23) :6665-6665

[6] DENOVO DNA MICRODELETION IN A GIRL WITH TURNER SYNDROME AND DUCHENNE MUSCULAR-DYSTROPHY [J].

CHELLY, J ;

MARLHENS, F ;

LEMAREC, B ;

JEANPIERRE, M ;

LAMBERT, M ;

HAMARD, G ;

DUTRILLAUX, B ;

KAPLAN, JC .

HUMAN GENETICS, 1986, 74 (02) :193-196

[7] MOLECULAR ANALYSIS OF APC MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS AND SPORADIC COLON CARCINOMAS [J].

COTTRELL, S ;

BICKNELL, D ;

KAKLAMANIS, L ;

BODMER, WF .

LANCET, 1992, 340 (8820) :626-630

[8]

CUTTING GR, 1988, MOL BIOL MED, V5, P173

[9] Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis [J].

De Rosa, M ;

Scarano, MI ;

Panariello, L ;

Carlomagno, N ;

Rossi, GB ;

Tempesta, A ;

Borgheresi, P ;

Renda, A ;

Izzo, P .

EUROPEAN JOURNAL OF HUMAN GENETICS, 1999, 7 (06) :695-703

[10] IDENTIFICATION AND CHARACTERIZATION OF THE FAMILIAL ADENOMATOUS POLYPOSIS-COLI GENE [J].

GRODEN, J ;

THLIVERIS, A ;

SAMOWITZ, W ;

CARLSON, M ;

GELBERT, L ;

ALBERTSEN, H ;

JOSLYN, G ;

STEVENS, J ;

SPIRIO, L ;

ROBERTSON, M ;

SARGEANT, L ;

KRAPCHO, K ;

WOLFF, E ;

BURT, R ;

HUGHES, JP ;

WARRINGTON, J ;

MCPHERSON, J ;

WASMUTH, J ;

LEPASLIER, D ;

ABDERRAHIM, H ;

COHEN, D ;

LEPPERT, M ;

WHITE, R .

CELL, 1991, 66 (03) :589-600

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