@article{oai:twinkle.repo.nii.ac.jp:00019160,
 author = {SASAKI, Kaori and SANAKA, Mayumi and IWASAKI, Naoko and OMORI, Yasue and IWAMOTO, Yasuhiko and OSAWA, Makiko},
 issue = {3},
 journal = {東京女子医科大学雑誌},
 month = {Mar},
 note = {糖尿病母体から出生した児における糖代謝異常出現へのHNF(hepatocyte nuclear factor)-1α遺伝子,および環境因子の関与を検討した. 1989～1999年の追跡発育発達検診を受診し,遺伝子検索の同意が得られた134名(1型糖尿病母体出生児50名, 2型糖尿病母体出生児84名)を対象とした.対象を経口糖負荷試験で判定し,正常結果のみを正常群(N),糖尿病と診断した糖尿病群(D),その他を境界群(B)とした. HNF-1α遺伝子はPCR直接シークエンス法で変異を検索した.結果は, (1) 1型糖尿病母体出生児ではD1名(2%), B12名(24%), N37名(74%)であり, 2型糖尿病母体出生児ではD3名(3.8%), B31名(36.9%), N50名(59.5%)であり,糖尿病児の病型は全例が母の病型と一致していた. (2) 糖代謝異常は若年で出現していた. (3) 母体妊娠中平均血糖は, D>B>N群の順に高値であった. (4) 母の妊娠前のBMIと児の最大肥満度は正相関を示した. (5) 2型糖尿病母体出生児のうちの肥満児では,母が非肥満の群で糖代謝異常出現率が高値であった. (6) HNF-1α遺伝子変異は認めなかったが,既知の遺伝子多型が非糖尿病者における頻度に比し高率の傾向にあった.糖尿病母体出生児の糖代謝異常にHNF-1α遺伝子の関与は示されなかった.今後も対象を増やし,父方の関与についてもさらに検討する必要がある., A study on genetic and environmental factors has been carried out in the 134 offspring of diabetic mothers (50 from type 1 and 84 from type 2), who had been followed up for 1 to 10 years. Offspring were judged to be normal (N), diabetic (D), and borderline (B) by results of glucose torelance test. A search for mutations in the hepatocyte nuclear factor (HNF)-1α gene was conducted using the PCR direct sequencing method. (1) Diabetes and abnormal glucose tolerance was found 3.0% and 32.1% in offspring, respectively. (2) The mean age abnormal glucose tolerance discovered in the offspring was 11.4 to 14.4 years. (3) The rank of mean plasma glucose values during pregnancy in both mothers with type 1 and type 2 diabetes, in descending order, by offspring group was D>B >N. (4) There was a significant positive correlation between maternal body mass index in the pre-pregnant state and the maximum degree of obesity of the offspring. (5) Among the obese offspring, development of abnormal glucose tolerance was significantly more common in the offspring of non-obese mothers than in those of obese mothers. (6) No HNF-1α gene abnormalities were observed in any of the patients.},
 pages = {157--166},
 title = {Mutations in the HNF-1α Gene Are Not Associated with Glucose Intolerance in Offspring of Diabetic Mothers in Japan},
 volume = {74},
 year = {2004}
}