Y. Tokuyama et al., ISLET AMYLOID POLYPEPTIDE GENE - NO EVIDENCE OF ABNORMAL PROMOTER REGION IN 35 TYPE-2 DIABETIC-PATIENTS, Diabetes research and clinical practice, 22(2-3), 1994, pp. 99-105
Aberrant expression of the IAPP gene may be involved in the pathogenes
is and islet amyloid formation of type 2 (non-insulin dependent) diabe
tes mellitus. We sequenced 536 basepairs in the 5'-upstream sequence o
f the gene of 35 Japanese with this disease and 3 patients with maturi
ty-onset diabetes in the young. The sequences corresponding to both al
leles of the gene were identical to one another and to the sequence of
subjects without diabetes mellitus except for one allelic variation o
f 'A' and 'C' at the position -230. Analysis by allele specific polyme
rase chain reaction revealed no significant difference in frequency of
the variation at this position between normal and type 2 diabetic sub
jects. We conclude that the 5' region of the IAPP gene is highly conse
rved and only 1 DNA polymorphism is detected and that this polymorphis
m does not associate with type 2 diabetes mellitus.