One-step analysis of ten functional haplotype combinations of the basic RET promoter with a LightCycler assay

被引:3
作者
Görgens, H
Fitze, G
Roesner, D
Schackert, HK
机构
[1] Tech Univ Dresden, Dept Surg Res, Klinikum Carl Gustav Carus, D-01307 Dresden, Germany
[2] Tech Univ Dresden, Dept Pediat Surg, Klinikum Carl Gustav Carus, D-01307 Dresden, Germany
关键词
D O I
10.1373/clinchem.2004.034165
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
[No abstract available]
引用
收藏
页码:1693 / 1695
页数:3
相关论文
共 10 条
[1]  
Bernard PS, 2000, CLIN CHEM, V46, P147
[2]   Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression [J].
Borrego, S ;
Sáez, ME ;
Ruiz, A ;
Gimm, O ;
López-Alonso, M ;
Antiñolo, G ;
Eng, C .
JOURNAL OF MEDICAL GENETICS, 1999, 36 (10) :771-774
[3]  
de la Fuente M, 2001, CLIN CHEM, V47, P1131
[5]   Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease [J].
Fitze, G ;
Schreiber, M ;
Kuhlisch, E ;
Schackert, HK ;
Roesner, D .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (05) :1469-1473
[6]   Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR) [J].
Fitze, G ;
Appelt, H ;
König, IR ;
Görgens, H ;
Stein, U ;
Walther, W ;
Gossen, M ;
Schreiber, M ;
Ziegler, A ;
Roesner, D ;
Schackert, HK .
HUMAN MOLECULAR GENETICS, 2003, 12 (24) :3207-3214
[7]   Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease [J].
Fitze, G ;
Cramer, J ;
Ziegler, A ;
Schierz, M ;
Schreiber, M ;
Kuhlisch, E ;
Roesner, D ;
Schackert, HK .
LANCET, 2002, 359 (9313) :1200-1205
[8]   LightCycler assay in the analysis of haplotypes of the type 2 diabetes susceptibility gene CAPN10 [J].
Görgens, H ;
Schwarz, P ;
Schulze, J ;
Schackert, HK .
CLINICAL CHEMISTRY, 2003, 49 (08) :1405-1408
[9]  
Lay MJ, 1997, CLIN CHEM, V43, P2262
[10]   Sequence and characterisation of the RET proto-oncogene 5′ flanking region:: analysis of retinoic acid responsiveness at the transcriptional level [J].
Patrone, G ;
Puliti, A ;
Bocciardi, R ;
Ravazzolo, R ;
Romeo, G .
FEBS LETTERS, 1997, 419 (01) :76-82