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Title:
前庭水管拡大症候群性難聴に関連するPDS遺伝子の突然変異を体外で特定するためのプライマーの製造方法及びその使用
Document Type and Number:
Japanese Patent JP2009528036
Kind Code:
A
Abstract:
The present invention relates to a method of preparing a primer used for determining the IVS7-2A†’G site mutation involved in the large vestibular aqueduct syndrome. The method comprises the steps of : designing a primer pair which may introduce any base substitutive mutation in the region of 1-13 bases between upstream and downstream including the IVS7-2 mutation site (A†’G) based upon the IVS7-2 A†’ G mutation site in the PDS gene, so as to obtain a new restriction site which may be used for distinguishing IVS7-2 wild type A site and mutant G site in the amplification products. The present invention further relates to the primers prepared according to this method, the kit or reagent or identical product comprising the primers, and a method for determining the IVS7-2A†’G site mutation of large vestibular aqueduct syndrome with said primers in vitro.

Inventors:
JIN ZHENGCE
Korea East
Park
Application Number:
JP2008556634A
Publication Date:
August 06, 2009
Filing Date:
January 24, 2007
Export Citation:
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Assignee:
JIN ZHENGCE
International Classes:
C12N15/09; C12Q1/68
Other References:
JPN6012023357; J. Med. Genet. Vol.40, 2003, pp.242-248
JPN6012023359; J. Clin. Endoc. Vol.86, No.8, 2001, pp.3907-3911
JPN6012023360; Human Mutation Vol.17, 2001, pp.403-411
JPN6012023361; Nature Genetics Vol.17, No.4, 1997, pp.411-422
JPN6012023349; Hearing Research Vol.199, 2005, pp.22-30
JPN6012023352; 古庄敏行ほか編: 臨床DNA診断法 , 1995, pp.170-177, 金原出版株式会社
JPN6012023354; The LANCET Vol.337, 1991, pp.1115-1118
JPN6012023355; Nucleic Acids Research Vol.17, No.9, 1989, p.3606
Attorney, Agent or Firm:
Koichi Washida