翻訳と辞書 |
Adermatoglyphia : ウィキペディア英語版 | Adermatoglyphia
Adermatoglyphia is an extremely rare genetic disorder which causes a person to have no fingerprints. There are only four known extended families worldwide which are affected by this condition. Recently, the description of a case of a person from Switzerland lacking fingerprints as an isolated finding was published. The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected. It results in a shortened form of the skin-specific protein. The heterozygous mode of mutation suggests an autosomal dominant mode of inheritance. Other conditions can cause a lack of fingerprints, but unlike them, adermatoglyphia has no other side effects. Mutations in helicases are involved in other rare genetic diseases, for instance Werner syndrome. ==Use in popular culture== Adermatoglyphia was used as a key plot point in series 4 episode 7 of the BBC crime comedy ''Death in Paradise'', when a woman with the condition was murdered. Citing evidence that the condition was only inherited through the maternal line, the detectives proved that one suspect's claim to be the victim's long-lost son was a deception, and he killed his 'mother' to prevent her from learning the truth.
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「Adermatoglyphia」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.
|
|