ITPD20070415A1 - Metodo ed apparato per la rilevazione dello stato di portatore sano della mutazione genetica 35delg sul gene gjb2 come fattore di rischio di ipoacusie - Google Patents

Metodo ed apparato per la rilevazione dello stato di portatore sano della mutazione genetica 35delg sul gene gjb2 come fattore di rischio di ipoacusie

Info

Publication number
ITPD20070415A1
ITPD20070415A1 ITPD20070415A ITPD20070415A1 IT PD20070415 A1 ITPD20070415 A1 IT PD20070415A1 IT PD20070415 A ITPD20070415 A IT PD20070415A IT PD20070415 A1 ITPD20070415 A1 IT PD20070415A1
Authority
IT
Italy
Prior art keywords
ipoacusy
35delg
beater
healthy
detecting
Prior art date
Application number
Other languages
English (en)
Inventor
Pierluigi Civera
Paolo Gasparini
Pierpaolo Guastalla
Original Assignee
Istituto Di Ricovero E Cura A
Torino Politecnico
Univ Degli Studi Trieste
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 Istituto Di Ricovero E Cura A, Torino Politecnico, Univ Degli Studi Trieste filed Critical Istituto Di Ricovero E Cura A
Priority to ITPD20070415 priority Critical patent/ITPD20070415A1/it
Priority to PCT/EP2008/067418 priority patent/WO2009080562A2/en
Publication of ITPD20070415A1 publication Critical patent/ITPD20070415A1/it

Links

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—Clinical applications
    • A61B8/0858—Clinical applications 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

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Pathology (AREA)
  • Physics & Mathematics (AREA)
  • General Health & Medical Sciences (AREA)
  • Veterinary Medicine (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Heart & Thoracic Surgery (AREA)
  • Surgery (AREA)
  • Animal Behavior & Ethology (AREA)
  • Biomedical Technology (AREA)
  • Public Health (AREA)
  • Radiology & Medical Imaging (AREA)
  • Organic Chemistry (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Medical Informatics (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Biotechnology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Ultra Sonic Daignosis Equipment (AREA)
ITPD20070415 2007-12-19 2007-12-19 Metodo ed apparato per la rilevazione dello stato di portatore sano della mutazione genetica 35delg sul gene gjb2 come fattore di rischio di ipoacusie ITPD20070415A1 (it)

Priority Applications (2)

Application Number Priority Date Filing Date Title
ITPD20070415 ITPD20070415A1 (it) 2007-12-19 2007-12-19 Metodo ed apparato per la rilevazione dello stato di portatore sano della mutazione genetica 35delg sul gene gjb2 come fattore di rischio di ipoacusie
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

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
ITPD20070415 ITPD20070415A1 (it) 2007-12-19 2007-12-19 Metodo ed apparato per la rilevazione dello stato di portatore sano della mutazione genetica 35delg sul gene gjb2 come fattore di rischio di ipoacusie

Publications (1)

Publication Number Publication Date
ITPD20070415A1 true ITPD20070415A1 (it) 2009-06-20

Family

ID=40315749

Family Applications (1)

Application Number Title Priority Date Filing Date
ITPD20070415 ITPD20070415A1 (it) 2007-12-19 2007-12-19 Metodo ed apparato per la rilevazione dello stato di portatore sano della mutazione genetica 35delg sul gene gjb2 come fattore di rischio di ipoacusie

Country Status (2)

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

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN113689914A (zh) * 2020-12-17 2021-11-23 武汉良培医学检验实验室有限公司 一种单基因遗传病扩展性携带者筛查方法及芯片

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
IT1399605B1 (it) 2010-04-14 2013-04-26 Esaote Spa Metodo per la misurazione dello spessore di un tessuto biologico tramite ultrasuoni e dispositivo per attuare tale metodo.
CN102465174A (zh) * 2010-11-09 2012-05-23 王宝恒 荧光定量pcr技术检测gjb2基因突变的方法及其试剂盒
IT202100001367A1 (it) * 2021-01-25 2022-07-25 Walnut S R L Sonda oftalmica

Family Cites Families (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

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN113689914A (zh) * 2020-12-17 2021-11-23 武汉良培医学检验实验室有限公司 一种单基因遗传病扩展性携带者筛查方法及芯片
CN113689914B (zh) * 2020-12-17 2024-02-20 武汉良培医学检验实验室有限公司 一种单基因遗传病扩展性携带者筛查方法及芯片

Also Published As

Publication number Publication date
WO2009080562A2 (en) 2009-07-02
WO2009080562A3 (en) 2009-10-08

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