Routine mutation screening of HNF-1α and GCK genes in MODY diagnosis: How effective are the techniques of DHPLC and direct sequencing used in combination?

Diabetologia

Volumn 44, Issue 6, 2001, Pages 775-778

  Boutin, P ^a   Vasseur, F ^a   Samson, C ^a   Wahl, C ^a   Froguel, P ^a  

^a INSTITUT DE BIOLOGIE DE LILLE   (France)

Author keywords

Glucokinase; Hepatocyte nuclear factor; Maturity onset diabetes of the young; Molecular diagnosis; Mutation detection

Indexed keywords

GLUCOKINASE; NUCLEAR FACTOR I;

ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; GENE MUTATION; GENETIC SCREENING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MATURITY ONSET DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COST-BENEFIT ANALYSIS; DIABETES MELLITUS, TYPE 2; DNA-BINDING PROTEINS; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; MUTATION; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SENSITIVITY AND SPECIFICITY; TIME FACTORS; TRANSCRIPTION FACTORS;

EID: 0034847721     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001250051687     Document Type: Article

References (10)

1. Molecular genetics of maturity-onset diabetes of the young
2. Mutation screening in 18 Caucasian families suggest the existence of other MODY genes
3. An automated fluorescent SSCP technique for screening mutations in the hepatocyte nuclear factor 1 alpha gene (MODY 3)
4. Big dye terminator cycle sequencing chemistry: Accuracy of the dilution process. Application for screening mutations in the TCF1 and GCK genes
5. DNA mutation detection using denaturing high performance liquid chromatography (DHPLC) current protocols
6. Optimal temperature selection for mutation detection by denaturing high performance liquid chromatography and comparison to SSCP and heteroduplex analysis
7. Denaturing high-performance liquid chromatography detects reliably BRCalif., USA1 and BRCalif., USA2 mutations
8. Familial hyperglycemia due to mutations in glucokinase: Definition of a subtype of diabetes mellitus
9. Identification of nine novel mutations in the hepatocyte nuclear factor-1 a gene associated with maturity-onset diabetes of the young (MODY3)
10. A comparison of BRCA1 mutation by direct sequencing, SSCP and DHPLC