Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease

被引：75

作者：

Nance, MA

Mathias-Hagen, V

Breningstall, G

Wick, MJ

McGlennen, RC

机构：

[1] Pk Nicollet Clin, Dept Neurosci, St Louis Pk, MN 55426 USA

[2] Pk Nicollet Clin, Dept Pediat, Minneapolis, MN USA

[3] Univ Minnesota, Inst Human Genet, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA

来源：

NEUROLOGY | 1999年 / 52卷 / 02期

关键词：

D O I：

10.1212/WNL.52.2.392

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A patient with juvenile Huntington's disease (HD) of probable maternal inheritance is reported. The expanded IT-15 allele was only detected with the use of modified PCR and Southern transfer techniques, which showed a CAG trinucleotide repeat expansion of approximately 250 repeats-the largest CAG expansion reported within the huntingtin gene. This case emphasizes the need for communication between the diagnostic laboratory and the clinician to define the molecular genetics of unusual cases.

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页码：392 / 394

页数：3

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