CAJ | 학술논문

在孟德尔遗传学中显性与隐性描述一对等位基因在杂合体时的功能关系，把在表型上看出效果的等位基因称为显性等位基因，看不出效果的称为隐性等位基因，并由此提出分离定律和自由组合定律，开创了遗传学这一学科。这样的描述最初是逻辑推理的需要，但对于研究生命结构与功能关系的实验性科学而言，必须在细胞与大分子实体上找到显性与隐性的生物学基础。在遗传学教学中，如何用现代分子遗传学知识诠释经典的显性和隐性概念是教师经常面临的释疑问题。笔者认为要理解等位基因显性和隐性的实质，必须了解等位基因的差异及其产物RNA或蛋白质在细胞中的具体作用。不同等位基因的蛋白质或者RNA产物在细胞内的不同时间、不同地点所起的作用不同，赋予了在细胞、组织或器官水平上能够区分观测到的表型差异，即显性或者隐性。文章根据基因结构的变异、基因调控的差异、基因产物的类型与作用等在细胞与分子水平上分别举例探讨了等位基因显性与隐性的分子实质及其变化，以期在遗传学教学过程中使学生对基因的变异和功能有更全面、更具体的理解。
재맹덕이유전학중현성여은성묘술일대등위기인재잡합체시적공능관계，파재표형상간출효과적등위기인칭위현성등위기인，간불출효과적칭위은성등위기인，병유차제출분리정률화자유조합정률，개창료유전학저일학과。저양적묘술최초시라집추리적수요，단대우연구생명결구여공능관계적실험성과학이언，필수재세포여대분자실체상조도현성여은성적생물학기출。재유전학교학중，여하용현대분자유전학지식전석경전적현성화은성개념시교사경상면림적석의문제。필자인위요리해등위기인현성화은성적실질，필수료해등위기인적차이급기산물RNA혹단백질재세포중적구체작용。불동등위기인적단백질혹자RNA산물재세포내적불동시간、불동지점소기적작용불동，부여료재세포、조직혹기관수평상능구구분관측도적표형차이，즉현성혹자은성。문장근거기인결구적변이、기인조공적차이、기인산물적류형여작용등재세포여분자수평상분별거례탐토료등위기인현성여은성적분자실질급기변화，이기재유전학교학과정중사학생대기인적변이화공능유경전면、경구체적리해。
In Mendellian genetics, the dominance and recessiveness are used to describe the functional relation-ship between two alleles of one gene in a heterozygote. The allele which constitutes a phenotypical character over the other is named dominant and the one functionally masked is called recessive. The definitions thereby led to the crea-tion of Mendel’s laws on segregation and independent assortment and subsequent classic genetics. The discrimination of dominance and recessiveness originally is a requirement for Mendel’s logical reasoning, but now it should be ex-plained by cellular and molecular principles in the modern genetics. To answer the question raised by students of how the dominance and recessiveness are controlled, we reviewed the recent articles and tried to summarize the cellular and molecular basis of dominant and recessive inheritance. Clearly, understanding the essences of dominant and re-cessive inheritance requires us to know the dissimilarity of the alleles and their products (RNA and/or proteins), and the way of their function in cells. The alleles spatio-temporally play different roles on offering cells, tissues or organs with discernible phenotypes, namely dominant or recessive. Here, we discuss the changes of allele dominance and recessiveness at the cellular and molecular levels based on the variation of gene structure, gene regulation, function and types of gene products, in order to make students understand gene mutation and function more comprehensively and concretely.