Title:
COMPOSITIONS AND METHODS FOR DETECTION OF GENETIC DEAFNESS GENE MUTATION
Document Type and Number:
WIPO Patent Application WO/2017/008177
Kind Code:
A1
Abstract:
In one aspect, a kit for detection of genetic gene mutation is provided, which is used for detecting nine deafness gene mutations of Caucasian populations, including GJB2 (c. 35delG, c. 167delT, c. 132G>C, and c. 269T>C), GJB6 (c. del309kb), SLC26A4 (c. 707T>C and c. 1246A>C), 12S rRNA (m. 1555A>G and m. 7444G>A). In another aspect, a method is provided, which method comprises labeling a target molecule with a luminophore, coupling the target molecule to a particle, and binding to a probe molecule on microarray. In some aspects, this technology, with high sensitivity, enables the detection and interpretation of molecular interactions in an efficient way.
Inventors:
XIANG GUANGXIN (CN)
LIU XUEZHONG (CN)
CHAI XINGPING (CN)
XING WANLI (CN)
CHENG JING (CN)
LIU XUEZHONG (CN)
CHAI XINGPING (CN)
XING WANLI (CN)
CHENG JING (CN)
Application Number:
PCT/CN2015/000505
Publication Date:
January 19, 2017
Filing Date:
July 14, 2015
Export Citation:
Assignee:
CAPITALBIO CORP (CN)
UNIV TSINGHUA (CN)
UNIV TSINGHUA (CN)
International Classes:
C12Q1/68; C12N15/11
Foreign References:
| CN102453761A | 2012-05-16 | |||
| US20070134691A1 | 2007-06-14 |
Other References:
GARDNER, PHYLLIS ET AL.: "Simultaneous Multigene Mutation Detection in Patients With Sensorineural Hearing Loss Through a Novel Diagnostic Microarray: A New Approach for Newborn Screening Follow-up.", PEDIATRICS., vol. 118, no. 3, 30 September 2006 (2006-09-30), pages 985 - 994
GRIFA, ANNA ET AL.: "Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.", NATURE GENETICS., vol. 23, 30 September 1999 (1999-09-30), pages 16 - 18, XP001002788, DOI: doi:10.1038/12612
SMITH, RICHARD JH ET AL.: "Nonsyndromic Hearing Loss and Deafness, DFNA3.", GENEREVIEWS., 12 June 2014 (2014-06-12), pages 1 - 17, XP055465529
"NK_004004.5(GJB2):e.269T>C(p.Leu90Pro), Variation ID: 17016.", CLINVAR-NCBI., 10 November 2014 (2014-11-10), pages 1 - 2, XP055465739
"NM_000441.1(SLC26A4):c.1246A>C(p.Thr416Pro), Variation ID: 4818.", CLINVAR-NCBI., 28 June 2013 (2013-06-28), pages 1 - 2, XP055465744
"m.7444G>A, Variation ID: 9663.", CLINVAR-NCBI., 3 July 2014 (2014-07-03), pages 1 - 2, XP055465747
"004004.5(GJB2): c.167dclT (p. Leu56Argfs), Variation ID: 17010.", CLINVAR-NCBI., 25 September 2014 (2014-09-25), pages 1 - 2, XP055465754
"NM_000441.1(SLC26A4): c.707T>C (p.Leu236Pro), Variation ID: 4817.", CLINVAR-NCBI., 30 September 2014 (2014-09-30), pages 1 - 2, XP055465752
GRIFA, ANNA ET AL.: "Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.", NATURE GENETICS., vol. 23, 30 September 1999 (1999-09-30), pages 16 - 18, XP001002788, DOI: doi:10.1038/12612
SMITH, RICHARD JH ET AL.: "Nonsyndromic Hearing Loss and Deafness, DFNA3.", GENEREVIEWS., 12 June 2014 (2014-06-12), pages 1 - 17, XP055465529
"NK_004004.5(GJB2):e.269T>C(p.Leu90Pro), Variation ID: 17016.", CLINVAR-NCBI., 10 November 2014 (2014-11-10), pages 1 - 2, XP055465739
"NM_000441.1(SLC26A4):c.1246A>C(p.Thr416Pro), Variation ID: 4818.", CLINVAR-NCBI., 28 June 2013 (2013-06-28), pages 1 - 2, XP055465744
"m.7444G>A, Variation ID: 9663.", CLINVAR-NCBI., 3 July 2014 (2014-07-03), pages 1 - 2, XP055465747
"004004.5(GJB2): c.167dclT (p. Leu56Argfs), Variation ID: 17010.", CLINVAR-NCBI., 25 September 2014 (2014-09-25), pages 1 - 2, XP055465754
"NM_000441.1(SLC26A4): c.707T>C (p.Leu236Pro), Variation ID: 4817.", CLINVAR-NCBI., 30 September 2014 (2014-09-30), pages 1 - 2, XP055465752
Attorney, Agent or Firm:
JEEKAI & PARTNERS (CN)
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