Maternal Uniparental Disomy for Chromosome 14 with Diabetes Mellitus

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概要

• 論文の詳細を見る

• A 20-year-old Japanese man was admitted to our hospital because of thirst and weight loss. His fasting plasma glucose, glycated hemoglobin, and urinary C-peptide were 262 mg/dl, 13.6%, and 44.8 μg/day, respectively, and the autoimmune antibodies related to type 1 diabetes were negative. Chromosome analysis of his peripheral blood lymphocytes showed a mos45, XY, der(14;14)(q10;q10)[129]/46, XY, +14, der(14;14)(q10;q10)[1] karyotype. His parents were karyotypically normal. Microsatellite marker analysis on chromosome 14 demonstrated mosaic maternal segmental isodisomy for 14q21-q24. Although the parents had normal glucose regulation, the patient who finally returned to impaired glucose tolerance and his mother both have a deficiency in early postprandial insulin secretion. Since obesity was mild (body mass index, 24.1 kg/m2) and he was relatively young for type 2 diabetes, we speculated that his isodisomy 14 may have been involved in the onset of diabetes mellitus in this patient.(Internal Medicine 41: 717-721, 2002)

• 社団法人 日本内科学会の論文
• 2002-09-01

著者

• Kishino T

  Department Of Pediatrics Nagasaki University School Of Medicine

• Kondoh Tatsuro

  長崎大学 医学部小児科

• Kondoh Tatsuro

  長崎大学 看

• Kondoh Tatsuro

  長崎大学 医歯薬学研究科人類遺伝学

• Kondoh Tatsuro

  東北大学 医学部遺伝病学分野

• Niikawa Norio

  長崎大学 医歯薬学総合研究科人類遺伝学

• Niikawa N

  The Research Institute Of Personalized Health Sciences Health Sciences University Of Hokkaido

• Kudo T

  Department Of Medical Genetics Tohoku University School Of Medicine

• KATAHIRA Masahito

  the Division of Endocrinology, Department of Internal Medicine, Okazaki City Hospital

• KAYASHIMA Tomohiko

  the Department of Human Genetics Nagasaki University School of Medicine

• KISHINO Tatsuya

  the Gene Research Center, Nagasaki University School of Medicine

• NIIKAWA Norio

  the Department of Human Genetics Nagasaki University School of Medicine

• Kudo Takayuki

  Department Of Otorhinolaryngology Tohoku University School Of Medicine

• Kayashima Tomohiko

  Department Of Human Genetics Nagasaki University School Of Medicine

• Kondoh Tatsuro

  Department Of Pediatrics Nagasaki University Graduate School Of Biomedical Sciences

• Katahira Masahito

  The Division Of Endocrinology Department Of Internal Medicine Okazaki City Hospital

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