A HOMOZYGOUS DELETION OF THE DPY19L2 GENE IS A CAUSE OF GLOBOZOOSPERMIA IN MEN FROM THE REPUBLIC OF MACEDONIA
Noveski P1, Madjunkova S1, Maleva I1, Sotiroska V2, Petanovski Z2, Plaseska-Karanfilska D1,*
*Corresponding Author: Professor Dijana Plaseska-Karanfilska, Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Av. Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia; Tel.: +389-2-3235-410; Fax: +389-2-3115-434; E-mail: dijana@manu.edu.mk
page: 73

RESULTS

We have sequenced the SPATA16 and PICK1 genes in the first globozoospermic patient (patient 1). However, we found no mutations that might be responsible for the infertility in this patient. Only two polymorphisms in the SPATA16 gene were identified: rs 115897458 or codon 18 (CAT>CGT) (His→Arg) and rs508508 or codon 225 (ACT>AGT) (Thr→Ser). Then, aCGH analysis was carried out in patient 1 and showed the presence of a homozygous deletion including the DPY19L2 gene (Figure 1). Because of the low number of probes in that region, classical PCR was performed for narrowing down the breakpoints and confirming the deletion. Patient 2 was studied by PCR analysis only. Both patients showed the same pattern of deletion breakpoints with PCR amplification only of outer loci of LCR region and no amplification of the inner loci LCR regions and the three exons in the DPLY19L2 gene (exons 1, 11 and 22), (Figure 2), with the maximum size of the deleted region being approximately 210 kb. The gap-PCR analysis generated a PCR fragment of approximately 1700 bp in both patients with globozoospermia, thus confirming the presence of a DPLY19L2 gene deletion.



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