An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1α gene (maturity-onset diabetes of the young)

Diabetes

Volumn 46, Issue 12, 1997, Pages 2108-2109

  Boutin, Philippe ^a,f   Chèvre, Jean Claude ^a   Hani, El Habib ^a   Gomis, Ramon ^d   Pardini, Victor C ^e   Guillausseau, Pierre Jean ^b   Vaxillaire, Martine ^a   Velho, Gilberto ^c   Froguel, Philippe ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

^c SAINT LOUIS HOSPITAL   (France)

^d HOSPITAL CLÍNIC   (Spain)

^e Ctro Pesq Endocrinol da S Casa   (Brazil)

^f INSTITUT PASTEUR DE LILLE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC TEST; GENE MUTATION; GENE SEQUENCE; HUMAN; MATURITY ONSET DIABETES MELLITUS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SCREENING; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030780380     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diab.46.12.2108     Document Type: Article

References (10)

1. Fajans SS: Scope and heterogeneous nature of MODY. Diabetes Care 13:49-64, 1990
2. Yamagata K, Furuta H, Oda O, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI: Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1). Nature 384:458-460, 1996
3. Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F, Lesage S, Stoffel M, Takeda J, Passa P, Permutt MA, Beckman JS, Bell GI, Cohen D: Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. N Engl J Med 328:697-702, 1993
4. Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj W, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Turner RC, Velho G, Chevre JC, Froguel P, Bell GI: Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3). Nature 384:455-458, 1996
5. Kaisaki PJ, Menzel S, Lindner T, Oda N, Rjasanowski I, Sahm J, Meincke G, Schulze J, Schmechel H, Petzold C, Ledermann HM, Sachse G, Boriraj VV, Menzel R, Kerner W, Turner RC, Yamagata K, Bell GI: Mutations in the hepatocyte nuclear factor-1α gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. Diabetes 46:528-535, 1997
6. Vaxillaire M, Rouard M, Yamagata K, Oda N, Kaisaki PJ, Boriraj VV, Chevre JC, Boccio V, Cox RD, Lathrop GM, Dussoix P, Philippe J, Timsit J, Charpentier G, Velho G, Bell GI, Froguel P: Identification of nine novel mutations in the hepatocyte nuclear factor-1α gene associated with maturity-onset diabetes of the young (MODY3). Hum Mol Genet 6:583-586, 1997
7. Iwahana H, Fujimura Y, Takahashi T, Iwabuchi K, Yoshimoto K, Itakura M: Multiple fluorescence-based PCR-SSCP analysis using internal fluorescent labeling of PCR products. Biotechniques 21:510-519,1996
8. Boutin P, Hani EH, Vasseur F, Roche C, Bailleul B, Hager J, Froguel P: Automated fluorescent screening for mutation by SSCP: use of universal M13 dye primers for labeling and detection. Biotechniques 23:358-362, 1997
9. Umpierrez GE, Casals MMC, Gebhart SSP, Mixon PS, Clark WS, Philipps LS: Diabetic ketoacidosis in obese African-Americans. Diabetes 44:790-796, 1995
10. Hayashi K, Yandell DW: How sensitive is PCR-SSCP? Hum Mutat 2:338-346, 1993