AUTOMATED-ANALYSIS OF MULTIPLEX MICROSATELLITES

被引：4

作者：

TAYLOR, GR ^{[1
]}

NOBLE, JS ^{[1
]}

MUELLER, RF ^{[1
]}

机构：

[1] ST JAMES UNIV HOSP,REG GENET SERV,LEEDS LS9 7TF,W YORKSHIRE,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 12期

关键词：

D O I：

10.1136/jmg.31.12.937

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The use of automated DNA fragment analysis with the Applied Biosystems 672 Genescanner system was evaluated in a routine diagnostic setting. The aim of the study was to compare automated fragment detection and analysis with conventional methods. For cystic fibrosis analysis the Delta F508 mutation in exon 10 of the cystic fibrosis transmembrane regulator (CFTR) gene was multiplexed with two intragenic microsatellites. The analysis of the Prader-Willi/Angelman region of chromosome 15 used a panel of five microsatellites. For dystrophin, seven microsatellites covering the entire dystrophin gene were co-amplified. Automated analysis was faster and more accurate than analysis using radiolabelled products with sequencing gels, although some inconsistencies in the sizing of microsatellite alleles were seen.

引用

页码：937 / 943

页数：7

共 20 条

[1] A POLYMORPHIC CACA REPEAT IN THE 3' UNTRANSLATED REGION OF DYSTROPHIN [J].

BEGGS, AH ;

KUNKEL, LM .

NUCLEIC ACIDS RESEARCH, 1990, 18 (07) :1931-1931

[2] RAPID DETECTION OF ALLELE LOSS IN COLORECTAL TUMORS USING MICROSATELLITES AND FLUORESCENT DNA TECHNOLOGY [J].

CAWKWELL, L ;

BELL, SM ;

LEWIS, FA ;

DIXON, MF ;

TAYLOR, GR ;

QUIRKE, P .

BRITISH JOURNAL OF CANCER, 1993, 67 (06) :1262-1267

[3]

CLEMENS PR, 1991, AM J HUM GENET, V49, P951

[4] MUTS BINDING PROTECTS HETERODUPLEX DNA FROM EXONUCLEASE DIGESTION IN-VITRO - A SIMPLE METHOD FOR DETECTING MUTATIONS [J].

ELLIS, LA ;

TAYLOR, GR ;

BANKS, R ;

BAUMBERG, S .

NUCLEIC ACIDS RESEARCH, 1994, 22 (13) :2710-2711

[5] PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS BY MULTIPLEX PCR OF MUTATION AND MICROSATELLITE ALLELES [J].

ESTIVILL, X ;

MORRAL, N ;

CASALS, T ;

NUNES, V .

LANCET, 1991, 338 (8764) :458-458

[6]

FEENER CA, 1991, AM J HUM GENET, V48, P621

[7] DINUCLEOTIDE REPEAT POLYMORPHISM OF D15S10 IN THE PRADER-WILLI CHROMOSOME REGION (PWCR) [J].

LINDEMAN, R ;

KOUTS, S ;

WOODAGE, T ;

SMITH, A ;

TRENT, RJ .

NUCLEIC ACIDS RESEARCH, 1991, 19 (19) :5449-5449

[8]

LITT M, 1989, AM J HUM GENET, V44, P397

[9] MULTIPLEX PCR OF 3 DINUCLEOTIDE REPEATS IN THE PRADER-WILLI-ANGELMAN CRITICAL REGION (15Q11-Q13) - MOLECULAR DIAGNOSIS AND MECHANISM OF UNIPARENTAL DISOMY [J].

MUTIRANGURA, A ;

GREENBERG, F ;

BUTLER, MG ;

MALCOLM, S ;

NICHOLLS, RD ;

CHAKRAVARTI, A ;

LEDBETTER, DH .

HUMAN MOLECULAR GENETICS, 1993, 2 (02) :143-151

[10] DINUCLEOTIDE REPEAT POLYMORPHISM AT THE GABA-A RECEPTOR BETA-3 (GABRB3) LOCUS IN THE ANGELMAN PRADER-WILLI REGION (AS PWS) OF CHROMOSOME-15 [J].

MUTIRANGURA, A ;

LEDBETTER, SA ;

KUWANO, A ;

CHINAULT, AC ;

LEDBETTER, DH .

HUMAN MOLECULAR GENETICS, 1992, 1 (01) :67-67

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