Usefulness of the Multiple Ligation-Dependent Probe Amplification in the Detection of Shox Gene Deletions

Authors

  • A. David University of Medicine and Pharmacy, Targu Mures, Romania
  • I.Z. Kun University of Medicine and Pharmacy, Targu Mures, Romania
  • Gy.L. Fekete University of Medicine and Pharmacy, Targu Mures, Romania
  • H. Butz Semmelweis University, Hungary
  • G. Nyiro MTA-SE Molecular Medicine Research Group, Budapest, Hungary
  • R. Bertalan MTA-SE Molecular Medicine Research Group, Budapest, Hungary
  • A. Patocs Semmelweis University, Hungary

Keywords:

SHOX gene, MLPA, short stature, PAR1

Abstract

The multiple ligation-dependent probe amplification (MLPA) is currently the first recommended molecular biological method used for the detection of deletions that occur in the SHOX gene and associated short stature. We summarize the results of the MLPA assay for the identification and characterization of SHOX deletions in 109 short-stature patients examined at the Endocrine Genetics Laboratory of Semmelweis University, Budapest, Hungary. This is one of the first studies on the Hungarian and Romanian populations in which deletions of the SHOX gene were tested with MLPA in short-stature patients.

Author Biographies

H. Butz, Semmelweis University, Hungary

Department of Laboratory Medicine;
MTA-SE Molecular Medicine Research Group, Budapest, Hungary

A. Patocs, Semmelweis University, Hungary

Department of Laboratory Medicine;
MTA-SE Molecular Medicine Research Group, Budapest, Hungary

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Published

2017-09-13

Issue

Vol. 10(59) No. 1 (2017)

Section

MEDICAL SCIENCES