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Connexin allele detection assays

a technology of allele detection and congenital hearing loss, applied in the field of congenital hearing loss mutation detection and characterization methods, can solve the problem that the method does not distinguish between true heterozygotes and compound heterozygotes, and achieve the effect of enhancing the raman effect or plasmon resonan

Inactive Publication Date: 2011-05-12
THIRD WAVE TECH
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Benefits of technology

The present invention provides methods and compositions for detecting mutations associated with congenital NSHI using invasive cleavage structure assays. These assays can detect two prevalent mutations in the connexin 26 gene associated with NSHI, -30ΔG and -167ΔT, by analyzing nucleic acid samples from patients. The invention is not limited to a specific type of nucleic acid sample and can be used with various samples such as blood, saliva, cerebral spinal fluid, and semen. The invention also provides kits for detecting the mutations. The technical effect of the invention is to provide a reliable and accurate method for detecting the mutations associated with congenital NSHI.

Problems solved by technology

Moreover, with the exception of those approaches that involve sequencing, these methods do not distinguish between true heterozygotes and compound heterozygotes, i.e. individuals carrying two different variant alleles.

Method used

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Examples

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example 1

Detection of the 30ΔG Mutation in Connexin 26 (GJB2)

[0162]This example describes detection of the 30ΔG, also referred to as the “35ΔG” mutation, as well as the corresponding wild type sequence, in genomic DNA isolated from blood samples using the INVADER assay. This example demonstrates that the INVADER assay can readily discriminate homozygous wild type, heterozygous, and homozygous mutant genotypes at this locus. This example further demonstrates that various sample preparation procedures are compatible with detection using the Invader assay.

i. Sample Preparation

[0163]To determine the compatibility of the INVADER assay with different sample preparation methods, four sample preparation techniques were tested: Gentra Systems PUREGENE Kit, Gentra Systems GENERATION Products, QIAGEN QIAAMP Blood Kit from buffycoat or from whole blood.

[0164]Each kit was used according to the manufacturer's protocols using approximately 6 ml of blood or 200 μl of buffycoat.

[0165]In addition, 12 genomic ...

example 2

Detection of the 167ΔT Mutation in Connexin 26 (GJB2)

[0175]This example describes detection of the 167ΔT mutation, as well as the corresponding wild-type sequence, in genomic DNA isolated from blood samples using the INVADER assay. This example demonstrates that the INVADER assay can readily discriminate homozygous wild type, heterozygous, and homozygous mutant genotypes at this locus. This example further demonstrates that various sample preparation procedures are compatible with detection using the Invader assay.

i. Sample Preparation

[0176]To determine the compatibility of the INVADER assay with different sample preparation methods, two sample preparation techniques were tested: Gentra Systems PUREGENE Kit was used to purify genomic DNA from whole blood and QIAGEN QIAAMP Blood Kit from was used to purify genomic DNA from buffycoat.

[0177]Each kit was used according to the manufacturer's protocols using approximately 6 mls of blood or 200 μl of buffycoat.

ii. INVADER Assay Reagents an...

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Abstract

The present invention provides compositions and methods for the detection and characterization of mutations associated with non-syndromic hearing impairment. More particularly, the present invention provides compositions, methods and kits for using invasive cleavage structure assays (e.g. the INVADER assay) to screen nucleic acid samples, e.g., from patients, for the presence of any one of a collection of mutations in the Connexin 26, or gap junction beta 2, gene associated with non-syndromic hearing loss.

Description

[0001]The present application claims priority to U.S. Provisional Application Ser. No. 60 / 438,963, filed Jan. 9, 2003, which is incorporated herein by reference.FIELD OF THE INVENTION[0002]The present invention relates to compositions and methods for the detection and characterization of mutations associated with congenital hearing loss. More particularly, the present invention relates to compositions, methods and kits for using invasive cleavage structure assays (e.g. the INVADER assay) to screen nucleic acid samples, e.g., from patients, for the presence of mutations in the connexin 26 (Cx26) or gap junction beta 2 gene (GJB2).BACKGROUND OF THE INVENTION[0003]Severe to profound congenital hearing loss affects approximately 1 / 1000 newborns in developed countries (Morton, in The Genetics of Hearing Impairment, The New York Acad. Sci., New York, 630, pp. 16-31 (1991) and Gorlin et al., Hereditary hearing loss and its syndromes, New York: Oxford University Press (1995)). At least half...

Claims

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Application Information

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Patent Type & Authority Applications(United States)
IPC IPC(8): C12Q1/68C07H21/04
CPCC07H21/04C12Q2600/156C12Q1/6883
Inventor MAST, ANDREA L.DORN, ERINKWIATKOWSKI, JR., ROBERT W.ACCOLA, MOLLYWIGDAL, SUSAN S.
Owner THIRD WAVE TECH
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