Indraswari, Darmawati Ayu and Faradz, Sultana MH (2016) MUTATION ANALYSIS USING MULTIPLEX LIGATION�DEPENDENT PROBE AMPLIFICATION (MLPA) AND HIGH�RESOLUTION MELTING CURVE (HRM) IN ISOLATED HYPOSPADIAS PATIENTS. Masters thesis, Universitas Diponegoro.

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Abstract

Introduction: Hypospadias, one of the most common disorders of male genitalia is thought to have an increased trend in prevalence worldwide. Two important genes involved in the development of male external genitalia include SHH and WNT5A. Currently there was no study using multiplex ligation-dependent probe amplification (MLPA) and high-resolution melting curve (HRM) for hypospadias. The increased frequency in the last 20 years has been thought to be associated with environmental changes especially in the increased risk of exposure to chemical compounds. Aim: To identify mutations in hypospadias patients using MLPA and HRM. Methods: Samples are 17 Indonesian and 27 Pakistani DNA with a clinical diagnosis of hypospadias. MLPA and HRM were employed, continued with Sanger sequencing if aberrant patterns are found. Results: No abnormalities in CNVs were found using MLPA, and aberrant patterns were found using HRM in two samples and further analysis using Sanger sequencing resulted in translocations of 92 nt and 100 nt of chromosome 8 respectively. Conclusion: MLPA showed no abnormalities, while HRM showed aberrations. Translocations of chromosome 8 to WNT5A gene were found in two hypospadias patients.
KEYWORD: Hypospadias, MLPA, HRM, SHH, WNT5A

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