Abstract:
:This study investigated the hypothesis that genetic alterations of the human insulin-like 3 (INSL3) gene are associated with testicular maldescent (TMD). Genomic DNA was extracted and amplified from peripheral blood samples of 170 unrelated children with all possible phenotypical expressions of TMD and 50 volunteers with normal external genitalia from the general paediatric population (controls). PCR-single strand conformation polymorphism analysis was used to screen INSL3 gene for genetic variants. For rapid screening of a detected nonsilent genetic alteration, restriction assay using endonuclease Eag I was further employed. Products were analysed on 2% agarose gel and restriction patterns were visualised by ethidium bromide. Differences in genotype and allelic distributions of nonsilent genetic alterations were evaluated between (i) patients-controls, (ii) familial-sporadic, (iii) bilateral-unilateral and (iv) intra-abdominal-inguinal cases of TMD. No mutations were detected. Three common INSL3 gene polymorphisms (27G>A, 126G>A, 178G>A) unrelated to any particular phenotype of TMD were detected both in patients and controls. These results indicate that INSL3 gene mutations are not a common cause of TMD in the human.
journal_name
Andrologiajournal_title
Andrologiaauthors
Mamoulakis C,Georgiou I,Dimitriadis F,Tsounapi P,Giannakis I,Chatzikyriakidou A,Antypas S,Sofras F,Takenaka A,Sofikitis Ndoi
10.1111/and.12184subject
Has Abstractpub_date
2014-01-01 00:00:00pages
986-96issue
9eissn
0303-4569issn
1439-0272journal_volume
46pub_type
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