Multiplex ligation dependent probe amplification analysis of KAL1, GNRH1, GNRHR, PROK2 and PROKR2 in male patients with idiopathic hypogonadotropic hypogonadism

作者：Basaran Yalcin^*; Bolu Erol; Unal Hilmi Umut; Sagkan Rahsan Ilikci; Taslipinar Abdullah; Ozgurtas Taner; Musabak Ugur

来源：Endokrynologia Polska, 2013, 64(4): 285-292.

DOI：10.5603/EP.2013.0007

• hypogonadism
• KAL1
• GNRH1
• GNRHR
• PROK2
• PROKR2
• MLPA

Introduction: The purpose of this study was to determine the prevalence of KAL1, GNRH1, GNRHR, PROK2, and PROKR2 copy number variations in patients with idiopathic hypogonadotropic hypogonadism (IHH).
Material and methods: 86 hypogonadal males (76 diagnosed with normosmic idiopathic hypogonadotropic hypogonadism [nIHH] and ten with Kallmann syndrome [KS]) and 95 healthy control individuals were studied for the presence of aforementioned genomic rearrangements, using multiplex ligation dependent probe amplification (MLPA).
Results: We detected that of the 86 patients, three with KS had a deletion of the KAL1 gene in exon 9, one of whom also carried a duplication in exon 11; and three with nIHH had a duplication of the PROK2 gene in exon 3; a deletion of the GNRHR gene in exon 1; and a duplication of the same gene in exon 2, respectively. No abnormalities were found in the patient group for the PROKR2 and GNRH1 genes. In addition, no genomic rearrangements were identified in the healthy control individuals for the described genes.
Conclusions: Defining the genetic basis of disease is essential to improve our understanding of this complex disorder, and could be useful for genetic counselling and for directing therapy. In addition, discovering the association between genetic mutations and disease is important for our better understanding of normal reproductive functions.

• 出版日期2013
• 单位中国人民解放军军事医学科学院