C282Y and H63D Mutations in the HFE Gene Have No Effect on Iron Overload Disorders in Japan.

• SHIONO Yuhta

  the Department of Medicine, Faculty of Pharmaceutical Sciences, Hokuriku University

• IKEDA Ritsuko

  the Department of Medicine, Faculty of Pharmaceutical Sciences, Hokuriku University

• HAYASHI Hisao

  the Department of Medicine, Faculty of Pharmaceutical Sciences, Hokuriku University

• WAKUSAWA Shinya

  the Department of Medicine, Faculty of Pharmaceutical Sciences, Hokuriku University

• SANAE Fujiko

  the Department of Medicine, Faculty of Pharmaceutical Sciences, Hokuriku University

• TAKIKAWA Toshikuni

  the Department of Medicine, Faculty of Pharmaceutical Sciences, Hokuriku University

• IMAIZUMI Yoshihiro

  the Department of Medicine, Faculty of Pharmaceutical Sciences, Hokuriku University

• YANO Motoyoshi

  the Third Department of Internal Medicine, Nagoya University

• YOSHIOKA Kentaro

  the Third Department of Internal Medicine, Nagoya University

• KAWANAKA Miwa

  the Center of Liver Diseases, Kawasaki Hospital, Kawasaki Medical School

• YAMADA Gohtaro

  the Center of Liver Diseases, Kawasaki Hospital, Kawasaki Medical School

抄録

Objective The gene responsible for hereditary hemochromatosis close to the human leukocyte antigen A locus was previously identified and designated as HFE. This study was performed to evaluate the clinical significance of two mutations, C282Y and H63D of HFE, in Japanese patients with hepatic iron overload.<br> Patients and Methods We examined C282Y and H63D in 11 patients with primary hemochromatosis, 94 patients with chronic hepatitis C, 54 patients with miscellaneous liver diseases, and 151 healthy volunteers. The HFE gene region of DNA samples extracted from peripheral leukocytes was amplified by polymerase chain reaction. Restriction enzyme analysis was performed using SnaBI for C282Y and Bell for H63D. Direct sequence analysis was then performed when products suggested the presence of a mutation.<br> Results All the subjects studied were free from C282Y. None of the patients with hemochromatosis had H63D. One patient with chronic hepatitis C was homozygous, and 4 patients were heterozygous for H63D. Two patients with alcoholic liver disease were heterozygous for H63D. The prevalence of chromosomes with H63D was 6/188 (3.2%) in patients with chronic hepatitis C, 2/108 (1.9%) in patients with miscellaneous liver diseases, and 8/302 (2.6%) in healthy volunteers. These differences were not significant.<br> Conclusion Our results suggested that neither C282Y nor H63D in HFE affect Japanese patients with hemochromatosis or chronic hepatitis C.<br>(Internal Medicine 40: 852-856, 2001)

収録刊行物

• Internal Medicine

  Internal Medicine 40 (9), 852-856, 2001

  一般社団法人 日本内科学会

キーワード

• hereditary hemochromatosis
• restriction enzyme analysis
• liver disease

詳細情報

• CRID: 1390001204866193024
• NII論文ID: 10007001926
• NII書誌ID: AA10827774
• DOI: 10.2169/internalmedicine.40.852
• COI: 1:CAS:528:DC%2BD3MXos12qsLs%3D
• ISSN: 13497235
• ISSN: 09182918
• ISSN: http://id.crossref.org/issn/09182918
• NDL書誌ID: 5916547
• PubMed: 11579943
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I5916547
• Web Site: http://www.jstage.jst.go.jp/article/internalmedicine1992/40/9/40_9_852/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2002068914
• 本文言語コード: en
• データソース種別:
  • JaLC
  • NDL
  • Crossref
  • PubMed
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可