『徳島大学 教育・研究者情報データベース (EDB)』---[学外] /
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種別 (必須): 学術論文 (審査論文) [継承]
言語 (必須): 英語 [継承]
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組織 (推奨):
著者 (必須): 1.工藤 英治
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2.鎌谷 直之 ([徳島大学.ゲノム機能研究センター])
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3. (英) Tezuka Osamu (日) (読)
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4. (英) Taniguchi Atsuo (日) (読)
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5. (英) Yamanaka Hisashi (日) (読)
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6. (英) Yabe Sachiko (日) (読)
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7. (英) Osabe Dai (日) (読)
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8. (英) Shinohara Syuichi (日) (読)
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9. (英) Nomura Kyoko (日) (読)
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10. (英) Segawa Masaya (日) (読)
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11. (英) Miyamoto Tatsuro (日) (読)
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12. (英) Moritani Maki (日) (読)
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13. (英) Kunika Kiyoshi (日) (読)
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14.板倉 光夫
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題名 (必須): (英) Familial juvenile hyperuricemic nephropathy: Detection of mutations in the uromodulin gene in five Japanese families  (日)    [継承]
副題 (任意):
要約 (任意): (英) Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal-dominant disease characterized by hyperuricemia of underexcretion type, gout, and chronic renal failure. We previously reported linkage on chromosome 16p12 in a large Japanese family designated as family 1 in the present study. Recent reports on the discovery of mutations of the uromodulin (UMOD) gene in families with FJHN encouraged us to screen UMOD mutations in Japanese families with FJHN, including family 1. Six unrelated Japanese families with FJHN were examined for mutations of the UMOD gene by direct sequencing. To confirm the results of the mutation screening, parametric linkage analyses were performed using markers in 16p12 region and around other candidate genes of FJHN. Five separate heterozygous mutations (Cys52Trp, Cys135Ser, Cys195Phe, Trp202Ser, and Pro236Leu) were found in five families, including family 1. All mutations were co-segregated with the disease phenotype in all families, except for family 1, in which an individual in the youngest generation was found as a phenocopy by the genetic testing. Revised multipoint linkage analysis showed that the UMOD gene was located in the interval showing logarithm of odds (LOD) score above 6.0. One family carrying no mutation in the UMOD gene showed no linkage to the medullary cystic kidney disease type 1 (MCKD1) locus, the genes of hepatocyte nuclear factor-1beta (HNF-1beta), or urate transporters URAT1 and hUAT. Our results gave an evidence for the mutation of the UMOD gene in the majority of Japanese families with FJHN. Genetic heterogeneity of FJHN was also confirmed. Genetic testing is necessary for definite diagnosis in some cases especially in the young generation.  (日)    [継承]
キーワード (推奨): 1. (英) familial juvenile hyperuricemic nephropathy (日) (読) [継承]
2. (英) FJHN (日) (読) [継承]
3. (英) uromodulin (日) (読) [継承]
4. (英) Tamm-Horsfall protein (日) (読) [継承]
5. (英) glycoprotein-2 (日) (読) [継承]
6. (英) linkage analysis (日) (読) [継承]
発行所 (推奨):
誌名 (必須): Kidney International ([The International Society of Nephrology])
(pISSN: 0085-2538, eISSN: 1523-1755)

ISSN (任意): 0085-2538
ISSN: 0085-2538 (pISSN: 0085-2538, eISSN: 1523-1755)
Title: Kidney international
Title(ISO): Kidney Int
Publisher: Elsevier Inc.
 (NLM Catalog  (Scopus  (CrossRef (Scopus information is found. [need login])
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(必須): 65 [継承]
(必須): 5 [継承]
(必須): 1589 1597 [継承]
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年月日 (必須): 西暦 2004年 5月 初日 (平成 16年 5月 初日) [継承]
URL (任意):
DOI (任意): 10.1111/j.1523-1755.2004.00559.x    (→Scopusで検索) [継承]
PMID (任意): 15086896    (→Scopusで検索) [継承]
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備考 (任意): 1.(英) Article.PublicationTypeList.PublicationType: Journal Article  (日)    [継承]
2.(英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't  (日)    [継承]

標準的な表示

和文冊子 ● Eiji Kudo, Naoyuki Kamatani, Osamu Tezuka, Atsuo Taniguchi, Hisashi Yamanaka, Sachiko Yabe, Dai Osabe, Syuichi Shinohara, Kyoko Nomura, Masaya Segawa, Tatsuro Miyamoto, Maki Moritani, Kiyoshi Kunika and Mitsuo Itakura : Familial juvenile hyperuricemic nephropathy: Detection of mutations in the uromodulin gene in five Japanese families, Kidney International, Vol.65, No.5, 1589-1597, 2004.
欧文冊子 ● Eiji Kudo, Naoyuki Kamatani, Osamu Tezuka, Atsuo Taniguchi, Hisashi Yamanaka, Sachiko Yabe, Dai Osabe, Syuichi Shinohara, Kyoko Nomura, Masaya Segawa, Tatsuro Miyamoto, Maki Moritani, Kiyoshi Kunika and Mitsuo Itakura : Familial juvenile hyperuricemic nephropathy: Detection of mutations in the uromodulin gene in five Japanese families, Kidney International, Vol.65, No.5, 1589-1597, 2004.

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