LINKAGE ANALYSIS IN ADENOMATOUS POLYPOSIS-COLI - THE USE OF 4 CLOSELY LINKED DNA PROBES IN 20 UK FAMILIES

被引：10
作者：
CACHONGONZALEZ, MB
DELHANTY, JDA
BURN, J
TSIOUPRA, K
DAVIS, MB
ATTWOOD, J
CHAPMAN, P
机构：
[1] UNIV LONDON UNIV COLL,GALTON LAB,DEPT GENET & BIOMET,4 STEPHENSON WAY,LONDON NW1 2HE,ENGLAND
[2] NATL HOSP,INST NEUROL,LONDON WC1N 3BG,ENGLAND
[3] UNIV NEWCASTLE UPON TYNE,REG GENET ADVISORY SERV,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLAND
[4] MRC,GALTON LAB,HUMAN BIOCHEM GENET UNIT,LONDON WC1E 6AS,ENGLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 10期
关键词：
D O I：
10.1136/jmg.28.10.681
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Linkage analysis was carried out on 20 unselected UK families segregating for adenomatous polyposis coli (APC) using four closely linked DNA probes. Significant lod scores were obtained between APC and three markers: pi-227 (D5S37) theta = 0.16; C11p11 (D5S71) theta = 0.10; and YN5.48 (D5S81) theta = 0.00. The fourth, ECB27 (D5S98), gave low lod scores. The APC gene showed linkage with at least one of the probes used in all families, which is in agreement with previous publications. Combined lod scores are now sufficiently high to allow the use of these probes in presymptomatic diagnosis. Despite the fact that 61% of persons at risk were informative for at least one DNA marker, only 15% were informative with flanking probes. One prenatal diagnosis was performed where the initial request had been for sterilisation.
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页码：681 / 685
页数：5
相关论文
共 22 条
[1]  
ASHTONRICKARDT PG, 1989, ONCOGENE, V4, P1169
[2]   A COMPUTER-PROGRAM TO MAKE LINKAGE ANALYSIS WITH LIPED AND LINKAGE EASIER TO PERFORM AND LESS PRONE TO INPUT ERRORS [J].
ATTWOOD, J ;
BRYANT, S .
ANNALS OF HUMAN GENETICS, 1988, 52 :259-259
[3]   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
[4]   THE UK NORTHERN REGION GENETIC REGISTER FOR FAMILIAL ADENOMATOUS POLYPOSIS-COLI - USE OF AGE OF ONSET, CONGENITAL HYPERTROPHY OF THE RETINAL-PIGMENT EPITHELIUM, AND DNA MARKERS IN RISK CALCULATIONS [J].
BURN, J ;
CHAPMAN, P ;
DELHANTY, J ;
WOOD, C ;
LALLOO, F ;
CACHONGONZALEZ, MB ;
TSIOUPRA, K ;
CHURCH, W ;
RHODES, M ;
GUNN, A .
JOURNAL OF MEDICAL GENETICS, 1991, 28 (05) :289-296
[5]  
Bussey HJR, 1975, FAMILIAL POLYPOSIS C
[6]   CONGENITAL HYPERTROPHY OF RETINAL-PIGMENT EPITHELIUM - A SIGN OF FAMILIAL ADENOMATOUS POLYPOSIS [J].
CHAPMAN, PD ;
CHURCH, W ;
BURN, J ;
GUNN, A .
BRITISH MEDICAL JOURNAL, 1989, 298 (6670) :353-354
[7]   REPORT OF THE COMMITTEE ON METHODS OF LINKAGE ANALYSIS AND REPORTING [J].
CONNEALLY, PM ;
EDWARDS, JH ;
KIDD, KK ;
LALOUEL, JM ;
MORTON, NE ;
OTT, J ;
WHITE, R .
CYTOGENETICS AND CELL GENETICS, 1985, 40 (1-4) :356-359
[8]  
DUNLOP MG, 1990, AM J HUM GENET, V47, P982
[9]   LINKAGE ANALYSIS IN FAMILIAL ADENOMATOUS POLYPOSIS - ORDER OF C11P11 (D5S71) AND PI-227 (D5S37) LOCI AT THE APC-GENE [J].
DUNLOP, MG ;
STEEL, CM ;
WYLLIE, AH ;
BIRD, CC ;
EVANS, HJ .
GENOMICS, 1989, 5 (02) :350-353
[10]   A TECHNIQUE FOR RADIOLABELING DNA RESTRICTION ENDONUCLEASE FRAGMENTS TO HIGH SPECIFIC ACTIVITY [J].
FEINBERG, AP ;
VOGELSTEIN, B .
ANALYTICAL BIOCHEMISTRY, 1983, 132 (01) :6-13
123