Suppr超能文献

携带酪氨酸酶阳性眼皮肤白化病基因的黑人携带者的视觉诱发电位

Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism.

作者信息

Castle D, Kromberg J, Kowalsky R, Moosa R, Gillman N, Zwane E, Fritz V

机构信息

Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.

出版信息

J Med Genet. 1988 Dec;25(12):835-7. doi: 10.1136/jmg.25.12.835.

Abstract

Visual evoked potential testing was performed on 15 Negro carriers of the gene for tyrosinase positive oculocutaneous albinism in order to detect whether they have the same visual pathway decussation anomalies as do homozygotes. No subject showed 01-02 asymmetry on monocular testing, indicating that decussation follows the normal pattern. It is concluded that visual evoked potential testing is probably not useful in the detection of Negroes heterozygous for the gene for tyrosinase positive oculocutaneous albinism.

摘要

对15名携带酪氨酸酶阳性眼皮肤白化病基因的黑人携带者进行了视觉诱发电位测试,以检测他们是否具有与纯合子相同的视觉通路交叉异常。在单眼测试中,没有受试者表现出01-02不对称,这表明交叉遵循正常模式。得出的结论是,视觉诱发电位测试可能对检测携带酪氨酸酶阳性眼皮肤白化病基因的黑人杂合子没有用处。

相似文献

5
A study of murine albinism using tyrosinase cDNA.
Prog Clin Biol Res. 1988;256:263-71.
6
Expression of tyrosinase gene in amelanotic mutant mice.酪氨酸酶基因在无黑色素突变小鼠中的表达。
Biochem Biophys Res Commun. 1988 Aug 30;155(1):470-5. doi: 10.1016/s0006-291x(88)81110-0.
10
Red or rufous albinism in southern Africa.非洲南部的红色或红褐色白化现象。
Ophthalmic Paediatr Genet. 1990 Sep;11(3):229-35. doi: 10.3109/13816819009020984.

本文引用的文献

1
Albinism in Northern Ireland.北爱尔兰的白化病。
Ann Hum Genet. 1960 Jul;24:213-38. doi: 10.1111/j.1469-1809.1960.tb01734.x.
3
A decisive electrophysiological test for human albinism.一项针对人类白化病的决定性电生理测试。
Electroencephalogr Clin Neurophysiol. 1983 May;55(5):513-31. doi: 10.1016/0013-4694(83)90162-1.
4
Evoked potentials in albinos: efficacy of pattern stimuli in detecting misrouted optic fibers.
Electroencephalogr Clin Neurophysiol. 1981 Dec;52(6):595-603. doi: 10.1016/0013-4694(81)91433-4.
6
Visual pathways in albinos.白化病患者的视觉通路。
Sci Am. 1974 May;230(5):44-54. doi: 10.1038/scientificamerican0574-44.
10
Differentiation of heterozygotes in recessive albinism.隐性白化病杂合子的鉴别
J Med Genet. 1986 Aug;23(4):323-7. doi: 10.1136/jmg.23.4.323.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验