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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Tietz syndrome ： ウィキペディア英語版 Tietz syndrome Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an autosomal dominant〔 congenital disorder characterized by deafness and leucism. It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene. Tietz syndrome was first described in 1923. == Cause and Genetics == Tietz syndrome is caused by mutations in the MITF gene, located on human chromosome 3p14.1-p12.3.〔〔 It is inherited in an autosomal dominant manner.〔 This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 3 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Tietz syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.