| 翻訳と辞書 |
| Tietz albinism-deafness 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.
|
|