No abnormalities of reg1 alpha and reg1 beta gene associated with diabetes mellitus.
In order to investigate whether there would be any association between abnormalities of either reg1 alpha or reg1 beta gene and diabetes mellitus in man, these two genes were analyzed in 42 patients with type 1 diabetes mellitus, 12 with fibrocalculous pancreatopathy, 37 with type 2 diabetes mellitus, and 22 normal controls, by PCR-SSCP analysis and nucleotide sequencing technique. Polymorphism in the reg1 alpha gene resulted in three mobility patterns in the PCR-SSCP analysis, due to nucleotide constituents at position -10 before exon 1 being either C/C, T/C or T/T. These three mobility patterns were observed in every group of subjects. The analysis of reg1 beta gene showed nucleotide substitutions in exon 4 in one patient, exon 5 in another patient with type 1 diabetes, and in exon 4 and intron 5 in one patient with fibrocalculous pancreatopathy. The nucleotide substitutions in exon 4 in the patient with type 1 diabetes and that with fibrocalculous pancreatopathy occurred at codons 103 and 84 while that in exon 5 in the patient with type 1 diabetes occurred at codon 141, changing the codons from CAT to CAC, GTG to GCG, and ACT to AAT and resulting in H103H silent, V84A and T141N missense mutations, respectively. In conclusion, using PCR-SSCP and nucleotide sequence analyses, we did not find any association between abnormalities of either reg1 alpha or reg1 beta gene with any type of diabetes studied.
Banchuin
Napatawn
N
Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand. sinbc@mahidol.ac.th
Boonyasrisawat
Watip
W
Pulsawat
Pinya
P
Vannasaeng
Sathit
S
Deerochanawong
Chaicharn
C
Sriussadaporn
Sutin
S
Ploybutr
Sirirat
S
Pasurakul
Thawatchai
T
Yenchitsomanus
Pa-thai
PT
D000328:Adult; D002135:Calcium-Binding Proteins / Q000235:genetics*; D003062:Codon; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D051847:Lithostathine; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
D002135:Calcium-Binding Proteins; D003062:Codon; D051847:Lithostathine; D009419:Nerve Tissue Proteins; C497617:REG1A protein, human; C497618:REG1B protein, human