Genetic heterogeneity in Gaucher disease.
Genetic heterogeneity in Gaucher disease.
复制标题
戈谢病的遗传异质性。
作者：
J. Zlotogora;R. ZAIZOVt;Gideon Bach;T. Cohen
成人戈谢病 I 型存在相当大的临床变异性，可分为三种主要亚型：极轻微型、严重型和本身呈现各种临床表现的中度型。一项基于我们诊所 25 个家庭的研究以及对已发表报告的回顾表明，当父母均为杂合子且超过一个孩子患有 I 型戈谢病时，这三种亚型总是存在家族内相似性。在一名父母和至少一名儿童受到影响的家庭中，受影响的家庭成员中可能会出现 I 型戈谢病临床亚型的变异。我们认为该疾病的三种不同的临床亚型反映了两个等位基因G1a和G1b的遗传异质性，并且三个相应的基因型代表了该疾病的三种不同的亚型。
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.
I 型戈谢病的遗传异质性。
DOI：
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发表时间：
1982
期刊：
Progress in clinical and biological research
影响因子：
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作者：
Devine,EA;Beighton,P;Petersen,EM;Desnick,RJ
通讯作者：
Desnick,RJ