Zlotogora J, Zaizov R, Klibansky C, Matoth Y, Bach G, Cohen T
J Med Genet. 1986 Aug;23(4):319-22. doi: 10.1136/jmg.23.4.319.
Considerable clinical variability occurs in adult Gaucher disease type I and three main subtypes may be delineated: a very mild form, a severe form, and a moderate form which itself presents various clinical manifestations. A study based on 25 families from our clinic and a review of published reports showed that when both parents were heterozygous and more than one child was affected with Gaucher disease type I, there was always intrafamilial similarity concerning the three subtypes. In families where one parent and at least one child were affected, variability in the clinical subtype of Gaucher disease type I might occur among the affected members of the family. We propose that the three different clinical subtypes of this disease reflect the genetic heterogeneity of two alleles, G1a and G1b and the three corresponding genotypes represent the three different subtypes of the disease.
成人Ⅰ型戈谢病存在显著的临床变异性，可分为三种主要亚型：一种非常轻微的形式、一种严重的形式和一种中度形式，而中度形式本身又呈现出各种临床表现。一项基于我们诊所25个家庭的研究以及对已发表报告的综述表明，当父母双方均为杂合子且不止一个孩子患有Ⅰ型戈谢病时，这三种亚型在家族内部总是存在相似性。在父母一方和至少一个孩子患病的家庭中，Ⅰ型戈谢病临床亚型的变异性可能出现在家族中的患病成员之间。我们提出，这种疾病的三种不同临床亚型反映了两个等位基因G1a和G1b的遗传异质性，并且三种相应的基因型代表了该疾病的三种不同亚型。
