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
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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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