GB/T 35029-2018Method based the microarray for mutation detetion of hereditary hearing loss (English PDF)

Foreword

This standard was drafted in accordance with the rules given in GB/T 1.1-2009.

1 Scope

This standard specifies the method of detection of common hereditary deafness genes based on microarray chips.

This standard applies to clinically assisted diagnosis, neonatal screening, epidemiological investigation, healthy person screening and other fields of hereditary deafness Detection of genetic loci.

2 Normative references

The following documents are indispensable for the application of this document. For dated references, only dated versions apply to this document. For undated references, the latest edition (including all amendments) applies to this document.

GB/T 6682 Analytical laboratory water specifications and test methods

GB/T 27990-2011 basic terminology of biochip

YY/T 1153 DNA microarray chip for in vitro diagnosis

YY/T 1154 laser confocal scanner

3 Terms and definitions

The terms and definitions defined in GB/T 27990-2011 apply to this document.

4 Abbreviations

The following abbreviations apply to this document.

DNA. deoxyribonucleic acid

dATP. deoxyadenosine triphosphate (deoxyadenosinetriphosphate)

dCTP. deoxycytidine triphosphate (deoxycytidinetriphosphate)

dGTP. deoxyguanosine triphosphate (deoxyguanosinetriphosphate)

dTTP. deoxythymidine triphosphate (deoxythymidinetriphosphate)

GJB2. gap junction protein subunit 2 (gapjunctionbeta2)

GJB3. gap junction protein subunit 3 (gapjunctionbeta3)

PCR. polymerase chain reaction (polymerase chain reaction)

SDS. sodium dodecyl sulfate (sodiumdodecylsulfate)

SLC26A4. solute transporter 26 member 4 (solutecarrierfamily26, member4)

SSC. citrate buffer solution (citratebuffersolution)

5 Principle

According to the genetic locus gene mutation site information that has been found and confirmed based on the epidemiological investigation of rickets in China, multiple Amplification and chip hybridization techniques detect genetic locus mutations commonly found in Chinese populations.