Physiological processes revealed through an analysis of inborn errors.
Physiological processes revealed through an analysis of inborn errors.
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通过对先天错误的分析揭示了生理过程。
DOI：
10.1152/ajprenal.1988.255.6.f1047
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发表时间：
1988
期刊：
影响因子：
--
通讯作者：
Mitas,M
中科院分区：
文献类型：
--
作者：
Gargus,JJ;Mitas,M
To develop the significance of human inborn errors of membrane function in terms of their potential for the elucidation of physiological processes, an overview of the genetics of inherited metabolic disorders is first presented, concisely covering classical Mendelian inheritance and progressing to molecular applications currently being used in the isolation of a number of disease-causing genes. Second, approaches to the isolation of several genes implicated in inherited disorders of membrane function are discussed. Examples are drawn from studies of the Shaker/IA K+ channel mutants of Drosophila and human inborn errors in the low-density lipoprotein receptor and Kidd antigen/urea transporter. These examples illustrate the techniques of "reverse" genetics, restriction fragment-length polymorphism analysis, chromosomal walking, and cDNA library screening with oligonucleotides and antibodies. Finally, the need to develop a physiological functional analysis of the protein structures derived from isolated human disease-causing genes is presented as a necessary direction for future research.
