白化病的遗传异质性

Genetic Heterogeneity in Albinism

白化病(albinism)是由黑色素(melanin)合成相关基因突变导致黑色素沉着减少或缺失引起的一类遗传性疾病的总称。根据临床表现涉及的组织、器官、系统的复杂程度,白化病分为非综合征白化病和综合征性白化病两大类,每一类包括若干病种,而有些病种又可根据基因座的不同区分为若干型,各型都存在一定程度的等位基因遗传异质性。本文主要概述国内外白化病的基因座遗传异质性和眼皮肤白化病的等位基因遗传异质性研究进展,为遗传咨询提供理论依据。

Albinism refers to a group of inherited conditions, Related genes＇ mutations lead to the melanin decrease or absence. Clinically, basing on the affecting grades of tissues, organs and systems by albinism, it can be firstly divided into two main categories ： non - syndromic and syndromic, Each of them includes more than one disorder; some of them can be divided further into several types which are of different loci and variable in allelic heterogeneity. This article mainly reviews the researches on locus heterogeneity and allelie heterogeneity of albinism so as to provide theoretical basis for genetic counseling.