Kit for detecting deafness susceptibility genes

Abstract

The invention discloses a kit for detecting deafness susceptibility genes, namely the invention provides a kit for rapidly and accurately detecting the GJB2, SLC26A4 and 12SrRNA deafness susceptibility genes by virtue of an MALDI-TOF mass-spectrometry technique. The kit mainly consists of the following ingredients: PCR amplification products shown as SEQ ID NO:1-SEQ ID NO:32 and mass-spectrometry extension primers shown as SEQ ID NO:33-SEQ ID NO:48. The kit provided by the invention, by combining the mass-spectrometry technique and a multi-primer extension technique, is relatively simple in adopted reagent consumables, low in cost and stable, and dozens to thousands of samples are analyzed in one reaction, so that loss caused by reagent preparation is reduced; and the kit is quite high in sensitivity, accuracy and detection consistency, and detection throughput is improved.

Description

technical field

[0001] The invention relates to the field of gene detection, in particular to a method and a kit for detecting deafness susceptibility genes by combining multiplex PCR amplification technology and matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS). Background technique

[0002] Deafness is a common congenital disease that seriously affects the quality of human life. It can be caused by a single gene mutation or a compound mutation of different genes, or by environmental factors (such as drugs) or a combination of both genes and the environment. Studies have shown that hereditary deafness has a high degree of genetic heterogeneity. Gene diagnosis is of great significance to the clinical evaluation of deaf patients and their families. The identification of deafness responsible genes is the molecular diagnosis of patients, the detection of gene carriers and prenatal diagnosis. One of the prerequisites for diagnosis. It i...

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