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[老年痴呆症与阿尔茨海默病的临床遗传学比较研究]

[Comparative clinico-genetic studies of senile dementia and Alzheimer's disease].

作者信息

Siriachenko T M, Trubnikov V I, Voskresenskaia N I, Chentsova G M, Kalyn Ia B

出版信息

Zh Nevropatol Psikhiatr Im S S Korsakova. 1990;90(3):114-9.

PMID:2163151
Abstract

The families of 128 probands with senile dementia (SD) and Alzheimer's disease (AD) were entered into the study. The correlation between the familial and sporadic cases of the disease was established. A geneticomathematic analysis was employed to estimate the clinicogenealogical findings. Two genetic models (monogenous and multifactorial) were tested. The contribution of the genetic factors to SD and AD liability was assessed. As a result of a comparative clinicogenetic study of SD and AD it was found that there is no doubt about the contribution made by the genetic factors to the origin of the Alzheimer type dementia (ATD). The rate of the afflicted relatives considerably exceeded the population rates of the investigated patterns of dementia. The limit estimations of the genetic similarity between the manifestations of AD and SD, both in the monogenous and multifactorial models, were obtained, which rejects the presence of the common major gene responsible for liability to these patterns of the ATD. It was assumed that AD and SD are characterized by the presence of the common genes modifiers. In addition, the difference was established between the types of inheritance in persons afflicted with these diseases: an oligogenic type of inheritance in SD, a quasidominant type with incomplete penetrance of homo- and heterozygotes in AD.

摘要

128名患有老年痴呆症(SD)和阿尔茨海默病(AD)的先证者家庭参与了该研究。确定了该疾病家族性病例和散发性病例之间的相关性。采用遗传数学分析来评估临床系谱学研究结果。测试了两种遗传模型(单基因模型和多因素模型)。评估了遗传因素对SD和AD易感性的影响。通过对SD和AD进行比较临床遗传学研究发现,遗传因素对阿尔茨海默型痴呆(ATD)发病的影响是毋庸置疑的。患病亲属的比例大大超过了所研究痴呆类型的人群比例。在单基因模型和多因素模型中,均获得了AD和SD表现之间遗传相似性的极限估计值,这排除了存在导致这些ATD类型易感性的共同主要基因的可能性。据推测,AD和SD的特征是存在共同的基因修饰因子。此外,还确定了患这些疾病的人的遗传类型差异:SD为寡基因遗传类型,AD为纯合子和杂合子外显不全的准显性遗传类型。

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