A reproducible assay of polymerase chain reaction to detect trinucleotide repeat expansion of Huntington's disease and senile chorea

Mitsunori Watanabe, Koji Abe, Masashi Aoki, Takeshi Kameya, Yasuto Itoyama, Mikio Shoji, Masaki Ikeda, Tomomichi Iizuka, Shunsaku Hirai

研究成果: Article査読

11 被引用数 (Scopus)

抄録

A simple and reproducible method of polymerase chain reaction (PCR) assay was established to detect trinucleotide repeat expansion for Huntington's disease (HD) using a new DNA polymerase and buffer system. The system consists of an extremely heat stable DNA polymerase (Pfu), and a buffer supplemented with ammonium sulfate and dimethyl sulfoxide. Previous methods to amplify expanded alleles for HD have been very complex in PCR conditions, but the reproducibility was sometimes very low because of repetitive sequences around the primer sequences. With the present method, strong bands for the disease alleles were reproducibly visible in a conventional agarose gel stained with ethidium bromide without using isotopes. Three cases with sporadic HD and a case with senile chorea showed expanded alleles for HD with smaller sizes of the expansion than cases with typical HD. These results showed that the present method provides a simple and reproducible way to detect HD allele, and some cases with sporadic HD and senile chorea had expanded HD alleles.

本文言語English
ページ(範囲)16-18
ページ数3
ジャーナルNeurological research
18
1
DOI
出版ステータスPublished - 1996

ASJC Scopus subject areas

  • 神経学
  • 臨床神経学

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