Abstract:
:We screened the protein-coding region of the peroxisome proliferator-activated receptor alpha gene (PPARA) and the flanking intron sequences for mutations in 57 unrelated Japanese subjects with maturity-onset diabetes of the young (MODY). We found three missense mutations, designated P22R, D140Y, and V227A. The D140Y and V227A mutations were found at similar frequencies in MODY and in nondiabetic Japanese subjects, suggesting that they were unlikely to be pathogenic. The P22R mutation was found in a single female subject with MODY. Two of her four siblings, all of whom were diagnosed with diabetes before age 35 years, also inherited the P22R mutation. However, two other diabetic siblings had not inherited the mutant allele, implying that the P22R mutation was not the cause of MODY in this family. Variation in the coding region of PPARA is unlikely to be a major cause of MODY in Japanese people.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Hara M,Wang X,Paz VP,Iwasaki N,Honda M,Iwamoto Y,Bell GIdoi
10.1007/s100380170080keywords:
subject
Has Abstractpub_date
2001-01-01 00:00:00pages
285-8issue
5eissn
1434-5161issn
1435-232Xjournal_volume
46pub_type
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