亨廷顿舞蹈病的遗传连锁分析与症状前检测。意大利的首次报告。

Genetic linkage analysis and presymptomatic testing in Huntington's disease. First report in Italy.

作者信息

Di Maio L, Boiano S, Squitieri F, Napolitano G, Cocozza S, Campanella G, Battistuzzi G

机构信息

II Facoltà di Medicina, Clinica Neurologica II, Università degli studi di Napoli.

出版信息

Acta Neurol (Napoli). 1992 Aug-Dec;14(4-6):524-9.

PMID:1363459

Abstract

Since 1979 data about Huntington's Disease (HD) in Campania, a region of Southern Italy, has been collecting. The prevalence of HD in this sample is 30.3 x 10(-6) (115 pedigrees, 1470 individuals). Mean age at onset was 38.67 years and the juvenile (onset before 20 years) accounted for 5.8%. Genetic linkage analysis in 4 unrelated pedigrees with D4S10 and D4S95 DNA probes has been performed. The absence of genetic heterogeneity--already proposed in a cooperative study for one pedigree--has been confirmed in this study.

摘要

自1979年以来，意大利南部坎帕尼亚地区有关亨廷顿舞蹈症（HD）的数据一直在收集。该样本中HD的患病率为30.3×10⁻⁶（115个家系，1470人）。发病的平均年龄为38.67岁，青少年型（20岁之前发病）占5.8%。已使用D4S10和D4S95 DNA探针在4个无亲缘关系的家系中进行了遗传连锁分析。本研究证实不存在遗传异质性——这一点在一项针对一个家系的合作研究中就已提出。