翻訳と辞書 Words near each other ・ Pseudodaphnella leuckarti ・ Pseudodaphnella nebulosa ・ Pseudodaphnella nexa ・ Pseudodaphnella nodorete ・ Pseudodaphnella phaedra ・ Pseudodaphnella philippinensis ・ Pseudodaphnella pulchella ・ Pseudodaphnella pustulata ・ Pseudodaphnella ramsayi ・ Pseudodaphnella retellaria ・ Pseudodaphnella rottnestensis ・ Pseudodaphnella rufolirata ・ Pseudodaphnella stipata ・ Pseudodaphnella virgo ・ Pseudodebis ・ Pseudodeficiency alleles ・ Pseudodellamora ・ Pseudodellamora brevicollis ・ Pseudodellamora championi ・ Pseudodellamora distinguenda ・ Pseudodellamora grossepalpalis ・ Pseudodeltaspis ・ Pseudodeltaspis carolinae ・ Pseudodeltaspis cyanea ・ Pseudodeltaspis punctipennis ・ Pseudodeltoida ・ Pseudodeltote ・ Pseudodeltote brunnea ・ Pseudodeltote coenia ・ Pseudodeltote formosana Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Pseudodeficiency alleles ： ウィキペディア英語版 Pseudodeficiency alleles A pseudodeficiency allele or pseudodeficiency mutation is a mutation that alters the protein product or changes the gene's expression, but without causing disease. For example, in the lysosomal storage diseases, patients with a pseudodeficiency allele show greatly reduced enzyme activity, yet they remain clinically healthy. In medical genetics, a false positive result occurs in an enzyme assay test when test results are positive, but disease or morbidity is not present. One possible cause of false positive results is a pseudodeficiency allele. Disease may also be present, but at a subclinical level. == Examples == * Tay-Sachs disease. Enzyme assay testing was especially effective among Ashkenazi Jews because fewer pseudodeficiency alleles are found in this population, as compared with the general population. Carrier screening has not been as reliable in the general population. * Metachromatic leukodystrophy. Low arylsulphatase A activity can occur in healthy individuals. This poses a challenge in genetic testing, making it difficult to distinguish between patients who are at risk of developing the disease and those who are healthy carriers of a pseudodeficiency mutation. Metachromatic leukodystrophy is a classic example of the difficulties caused by pseudodeficiency in carrier screening, because very high pseudodeficiency carrier frequencies have been detected in some populations. 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「Pseudodeficiency alleles」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.