Title:
HUMAN USH2A MUTANT
Document Type and Number:
Japanese Patent JP2011024467
Kind Code:
A
Abstract:
To provide a mutant in human Usher syndrome-related USH2A gene.
There are provided a polynucleotide, or a polynucleotide comprising 20-100 continuous DNA sequences containing one or more mutations. The USH2A of a Japanese can be diagnosed at early stage by carrying out mutational analysis of the USH2A, identifying eleven kinds of new gene mutations, and further identifying the mutation (c.8559-2A>G) recognized in high frequency in the Japanese.
Inventors:
NAKANISHI HIROSHI
IWASAKI SATOSHI
MINOSHIMA NOBUO
MINEDA SHUKO
HOTTA YOSHIHIRO
IWASAKI SATOSHI
MINOSHIMA NOBUO
MINEDA SHUKO
HOTTA YOSHIHIRO
Application Number:
JP2009172503A
Publication Date:
February 10, 2011
Filing Date:
July 23, 2009
Export Citation:
Assignee:
HAMAMATSU UNIV SCHOOL OF MEDICINE
International Classes:
C12N15/09
Other References:
JPN6014005277; Ｃｌｉｎｉｃａｌ Ｇｅｎｅｔｉｃｓ ｖｏｌ．７６， ｎｏ．４, 200910, ｐｐ．３８３-３９１
JPN6014005263; ＨＵＭＡＮ ＭＵＴＡＴＩＯＮ ｖｏｌ．２８， ｎｏ．８, 2007, ｐ．７８１-７８９
JPN6014005266; ＨＵＭＡＮ ＭＵＴＡＴＩＯＮ ｖｏｌ．２９， ｎｏ．３, 2008, ｐ．４５１
JPN6014005269; Ａｒｃｈ Ｏｐｈｔｈａｌｍｏｌ． ｖｏｌ．１２５， ｎｏ．２, 2007, ｐ．２１９-２２４
JPN6014005271; Ｍｏｌｅｃｕｌａｒ Ｖｉｓｉｏｎ ｖｏｌ．１４, 2008, ｐ．２０６７-２０７５
JPN6014005274; Ｅｕｒｏｐｅａｎ Ｊｏｕｒｎａｌ ｏｆ Ｈｕｍａｎ Ｇｅｎｅｔｉｃｓ ｖｏｌ．１７, 20080730, ｐ．８０-８４
JPN6014005263; ＨＵＭＡＮ ＭＵＴＡＴＩＯＮ ｖｏｌ．２８， ｎｏ．８, 2007, ｐ．７８１-７８９
JPN6014005266; ＨＵＭＡＮ ＭＵＴＡＴＩＯＮ ｖｏｌ．２９， ｎｏ．３, 2008, ｐ．４５１
JPN6014005269; Ａｒｃｈ Ｏｐｈｔｈａｌｍｏｌ． ｖｏｌ．１２５， ｎｏ．２, 2007, ｐ．２１９-２２４
JPN6014005271; Ｍｏｌｅｃｕｌａｒ Ｖｉｓｉｏｎ ｖｏｌ．１４, 2008, ｐ．２０６７-２０７５
JPN6014005274; Ｅｕｒｏｐｅａｎ Ｊｏｕｒｎａｌ ｏｆ Ｈｕｍａｎ Ｇｅｎｅｔｉｃｓ ｖｏｌ．１７, 20080730, ｐ．８０-８４
Attorney, Agent or Firm:
Hajime Tsukuni
Koshiro Tsukuda
Fusayuki Saito
Suzuki Otoya
Koshiro Tsukuda
Fusayuki Saito
Suzuki Otoya
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