Title:
METHOD FOR DETECTING CHROMOSOME DEFICIENCIES FOR CONGENITAL ABNORMALITY
Document Type and Number:
WIPO Patent Application WO/2010/013842
Kind Code:
A1
Abstract:
Provided is a method for detecting diseases involving multiple anomalads accompanying mental retardation by analyzing the presence or absence of amplification or deficiency in the human chromosome to clarify the causes of the diseases. The method detects the multiple anomalads accompanying the mental retardation by detecting a hemizygote deficiency in the region of 10q24.31-10q25.1 of the human chromosome. The method is suitably performed by detecting a signal that is generated by hybridization between nucleic acid including a part of the region of 10q24.31-10q25.1 and a nucleic acid specimen on the basis of the hemizygote deficiency.
Inventors:
INAZAWA JOHJI (JP)
IMOTO ISSEI (JP)
HAYASHI SHIN (JP)
AIZU YOSHINORI (JP)
IMOTO ISSEI (JP)
HAYASHI SHIN (JP)
AIZU YOSHINORI (JP)
Application Number:
PCT/JP2009/063900
Publication Date:
February 04, 2010
Filing Date:
July 30, 2009
Export Citation:
Assignee:
FUJIFILM CORP (JP)
NAT UNIV CORP TOKYO MED & DENT (JP)
INAZAWA JOHJI (JP)
IMOTO ISSEI (JP)
HAYASHI SHIN (JP)
AIZU YOSHINORI (JP)
NAT UNIV CORP TOKYO MED & DENT (JP)
INAZAWA JOHJI (JP)
IMOTO ISSEI (JP)
HAYASHI SHIN (JP)
AIZU YOSHINORI (JP)
International Classes:
C12Q1/68; C12N15/09; G01N33/53
Foreign References:
| JP2005304481A | 2005-11-04 | |||
| JP2008072939A | 2008-04-03 | |||
| JP2005304481A | 2005-11-04 |
Other References:
VAN DE VOOREN M.J. ET AL.: "Familial balanced insertion (5;10) and monosomy and trisomy (10) (q24.2 q25.3).", CLIN. GENET., vol. 25, no. 1, 1984, pages 52 - 58, XP008142733
"Basic Technology to Establishing Tailor-Made Medicine by Utilizing Genome Information Dai 3 Kai Kokai Symposium Yoshishu, 2007", article JOJI INASAWA ET AL.: "Ko Seido Genome Array no Kaihatsu to Shikkan Idenshi no Tansaku", pages: 19 - 22, XP008142749
PRESTON R.A. ET AL.: "gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.", NAT. GENET., vol. 7, no. 2, 1994, pages 149 - 153, XP008142753
MIYAKO KAWAMURA ET AL.: "C-gun Senshokutai (10 Ban, 11 Ban, 12 Ban) Kesshitsu no Ekigaku to Rinshozo", ANNUAL REPORT OF HUMAN LIFE SCIENCE, OSAKA CITY UNIVERSITY, vol. 38, 1990, pages 461 - 472, XP008142750
"Guidebook for Application of Array CGH Diagnosis", February 2008, JOURNAL CO., LTD., pages: 40 - 50,78-81
YASUI, K.; IMOTO, I.; FUKUDA, Y.; PIMKHAOKHAM, A.; YANG, Z. Q.; NARUTO, T.; SHIMADA, Y.; NAKAMURA, Y.; INAZAWA, J.: "Identification of target genes within an amplicon at 14q12-q13 in esophageal squamous cell carcinoma", GENES CHROMOSOMES CANCER, vol. 32, 2001, pages 112 - 118
See also references of EP 2319938A4
"Basic Technology to Establishing Tailor-Made Medicine by Utilizing Genome Information Dai 3 Kai Kokai Symposium Yoshishu, 2007", article JOJI INASAWA ET AL.: "Ko Seido Genome Array no Kaihatsu to Shikkan Idenshi no Tansaku", pages: 19 - 22, XP008142749
PRESTON R.A. ET AL.: "gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.", NAT. GENET., vol. 7, no. 2, 1994, pages 149 - 153, XP008142753
MIYAKO KAWAMURA ET AL.: "C-gun Senshokutai (10 Ban, 11 Ban, 12 Ban) Kesshitsu no Ekigaku to Rinshozo", ANNUAL REPORT OF HUMAN LIFE SCIENCE, OSAKA CITY UNIVERSITY, vol. 38, 1990, pages 461 - 472, XP008142750
"Guidebook for Application of Array CGH Diagnosis", February 2008, JOURNAL CO., LTD., pages: 40 - 50,78-81
YASUI, K.; IMOTO, I.; FUKUDA, Y.; PIMKHAOKHAM, A.; YANG, Z. Q.; NARUTO, T.; SHIMADA, Y.; NAKAMURA, Y.; INAZAWA, J.: "Identification of target genes within an amplicon at 14q12-q13 in esophageal squamous cell carcinoma", GENES CHROMOSOMES CANCER, vol. 32, 2001, pages 112 - 118
See also references of EP 2319938A4
Attorney, Agent or Firm:
SHIMURA, Mitsuharu (Shibuya-ku Tokyo, 31, JP)
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