WO2009080562A3 - Method and apparatus for detection of the healthy carrier state for the 35delg mutation in the gjb2 gene as risk factor for hearing loss - Google Patents

Method and apparatus for detection of the healthy carrier state for the 35delg mutation in the gjb2 gene as risk factor for hearing loss Download PDF

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Publication number
WO2009080562A3
WO2009080562A3 PCT/EP2008/067418 EP2008067418W WO2009080562A3 WO 2009080562 A3 WO2009080562 A3 WO 2009080562A3 EP 2008067418 W EP2008067418 W EP 2008067418W WO 2009080562 A3 WO2009080562 A3 WO 2009080562A3
Authority
WO
WIPO (PCT)
Prior art keywords
detection
hearing loss
mutation
carrier state
risk factor
Prior art date
Application number
PCT/EP2008/067418
Other languages
French (fr)
Other versions
WO2009080562A2 (en
Inventor
Pierpaolo Guastalla
Paolo Gasparini
Pierluigi Civera
Original Assignee
Universita' Degli Studi Di Trieste
Istituto Di Ricovero E Cura A Carattere Scientifico Pediatrico Burlo Garofolo - Ospedale Di Alta Specializzazione E Di Rilievo Nazionale Per La Salute Della Donna E Del Bambino
Politecnico Di Torino
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Universita' Degli Studi Di Trieste, Istituto Di Ricovero E Cura A Carattere Scientifico Pediatrico Burlo Garofolo - Ospedale Di Alta Specializzazione E Di Rilievo Nazionale Per La Salute Della Donna E Del Bambino, Politecnico Di Torino filed Critical Universita' Degli Studi Di Trieste
Publication of WO2009080562A2 publication Critical patent/WO2009080562A2/en
Publication of WO2009080562A3 publication Critical patent/WO2009080562A3/en

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Classifications

    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
    • A61B8/00—Diagnosis using ultrasonic, sonic or infrasonic waves
    • A61B8/08—Detecting organic movements or changes, e.g. tumours, cysts, swellings
    • A61B8/0858—Detecting organic movements or changes, e.g. tumours, cysts, swellings involving measuring tissue layers, e.g. skin, interfaces
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
    • A61B8/00—Diagnosis using ultrasonic, sonic or infrasonic waves
    • A61B8/42—Details of probe positioning or probe attachment to the patient
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
    • A61B8/00—Diagnosis using ultrasonic, sonic or infrasonic waves
    • A61B8/44—Constructional features of the ultrasonic, sonic or infrasonic diagnostic device
    • A61B8/4438—Means for identifying the diagnostic device, e.g. barcodes
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
    • A61B8/00—Diagnosis using ultrasonic, sonic or infrasonic waves
    • A61B8/56—Details of data transmission or power supply
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6841—In situ hybridisation
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Abstract

A method is described for detection of the healthy carrier state for the genetic mutation 35delG in the GJB2 gene based on the measurement of epidermal thickness. Since this mutation correlates with the occurrence of genetically based hearing loss, the screening of a general normal hearing population for a potential genetic mutation, performed by non-invasive, rapid and reliable measurement of epidermal thickness, represents an important tool for genetic screening and assessment for a potential associated deafness risk. In addition to the method, the invention describes the apparatus to perform said method.
PCT/EP2008/067418 2007-12-19 2008-12-12 Method and apparatus for detection of the healthy carrier state for the 35delg mutation in the gjb2 gene as risk factor for hearing loss WO2009080562A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
ITPD20070415 ITPD20070415A1 (en) 2007-12-19 2007-12-19 METHOD AND APPARATUS FOR DETECTING THE HEALTHY BEATER STATE OF 35DELG GENETIC MUTATION ON GJB2 GENE AS AN IPOACUSY RISK FACTOR
ITPD2007A000415 2007-12-19

Publications (2)

Publication Number Publication Date
WO2009080562A2 WO2009080562A2 (en) 2009-07-02
WO2009080562A3 true WO2009080562A3 (en) 2009-10-08

Family

ID=40315749

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/EP2008/067418 WO2009080562A2 (en) 2007-12-19 2008-12-12 Method and apparatus for detection of the healthy carrier state for the 35delg mutation in the gjb2 gene as risk factor for hearing loss

Country Status (2)

Country Link
IT (1) ITPD20070415A1 (en)
WO (1) WO2009080562A2 (en)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
IT1399605B1 (en) * 2010-04-14 2013-04-26 Esaote Spa METHOD FOR MEASURING THE THICKNESS OF A BIOLOGICAL FABRIC THROUGH ULTRASOUNDS AND DEVICE FOR IMPLEMENTING THIS METHOD.
CN102465174A (en) * 2010-11-09 2012-05-23 王宝恒 Method for detecting GJB2 gene mutation by fluorescence quantitative PCR technology, and kit thereof
CN113689914B (en) * 2020-12-17 2024-02-20 武汉良培医学检验实验室有限公司 Single-gene genetic disease expansibility carrier screening method and chip
IT202100001367A1 (en) * 2021-01-25 2022-07-25 Walnut S R L OPHTHALMIC PROBE

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6554771B1 (en) * 2001-12-18 2003-04-29 Koninklijke Philips Electronics N.V. Position sensor in ultrasound transducer probe
US20060184024A1 (en) * 2004-12-10 2006-08-17 Intelametrix, Inc. Tissue thickness measurement device
WO2008058007A2 (en) * 2006-11-02 2008-05-15 Intelametrix, Inc. Tissue thickness and structure measurement device

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6554771B1 (en) * 2001-12-18 2003-04-29 Koninklijke Philips Electronics N.V. Position sensor in ultrasound transducer probe
US20060184024A1 (en) * 2004-12-10 2006-08-17 Intelametrix, Inc. Tissue thickness measurement device
WO2008058007A2 (en) * 2006-11-02 2008-05-15 Intelametrix, Inc. Tissue thickness and structure measurement device

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
GUASTALLA PIERPAOLO ET AL: "Detection of epidermal thickening in GJB2 carriers with epidermal US", RADIOLOGY, OAK BROOK,IL, vol. 251, no. 1, 1 April 2009 (2009-04-01), pages 281 - 286, XP009115257, ISSN: 0033-8419, [retrieved on 20090203] *
J.E.A. COMMON, W.-L. DI, D. DAVIES., D.P. KELSELL: "Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival", JOURNAL OF MEDICAL GENETICS, vol. 41, 2004, pages 573 - 575, XP002523579 *
L. OVERGAARD OLSEN, H. TAKIWAKI, J. SERUP: "High-frequency ultrasound characterization of normal skin. Skin thickness and echographic density of 22 anatomical sites", SKIN RESEARCH AND TECHNOLOGY, vol. 1, 1995, Munksgaard, pages 74 - 80, XP002523580 *
P. D'ADAMO, V.I. GUERCI, A. FABRETTO, F. FALETRA, D.L. GRASSO, L. RONFANI, M. MONTICO, M. MORGUTTI, P. GUASTALLA, P.GASPARINI: "Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?", EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 17, 3 December 2008 (2008-12-03), pages 284 - 286, XP002523578 *
STELLA MAN Y K ET AL: "A Deafness-Associated Mutant Human Connexin 26 Improves the Epithelial Barrier In Vitro", JOURNAL OF MEMBRANE BIOLOGY, SPRINGER-VERLAG, NE, vol. 218, no. 1-3, 21 June 2007 (2007-06-21), pages 29 - 37, XP019560237, ISSN: 1432-1424 *

Also Published As

Publication number Publication date
WO2009080562A2 (en) 2009-07-02
ITPD20070415A1 (en) 2009-06-20

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