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Updated: May 11, 2026

Analysis of the c-KIT Ligand Promoter Using Chromatin Immunoprecipitation

Analysis of the c-KIT Ligand Promoter Using Chromatin Immunoprecipitation

Published on: June 27, 2017

c-kit mutational analysis in paraffin material.

¹Institute of Pathology, University of Munich, Munich, Germany.

Methods in Molecular Biology (Clifton, N.J.)

|May 14, 2013

Summary

This summary is machine-generated.

Detecting the KIT D816V mutation is crucial for diagnosing systemic mastocytosis (SM). This study details advanced molecular techniques for accurate c-kit mutation analysis in patient samples.

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Analysis of the c-KIT Ligand Promoter Using Chromatin Immunoprecipitation

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Published on: June 27, 2017

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

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Published on: March 21, 2018

Area of Science:

Molecular Biology
Oncology
Hematology

Background:

Systemic mastocytosis (SM) diagnosis relies on WHO criteria, including the KIT D816V mutation.
The c-kit proto-oncogene's D816V mutation is a key diagnostic marker and therapeutic target in SM.
Current methods for detecting c-kit mutations vary, impacting diagnostic accuracy.

Purpose of the Study:

To present PNA-mediated PCR-clamping combined with melting point analysis for c-kit mutation detection.
To enable accurate genotyping of amplification products from various sample types.

Main Methods:

Polymerase chain reaction (PCR) amplification of c-kit exon 17.
PNA-mediated PCR-clamping for enhanced specificity.
Melting point analysis for genotyping of amplification products.
Analysis of total DNA and microdissected cells from bone marrow biopsies.

Main Results:

The described method allows for precise detection of c-kit mutations.
Applicable to both bulk DNA and single cells from formalin-fixed paraffin-embedded tissues.
Offers an alternative to RFLP and probe-based hybridization methods.

Conclusions:

PNA-mediated PCR-clamping with melting point analysis is a robust technique for mastocytosis mutational analysis.
This method enhances the diagnostic capabilities for identifying the KIT D816V mutation.
Facilitates accurate molecular diagnosis in challenging clinical samples.