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Croatian Medical Journal, Vol. 60 No. 3, 2019.

Izvorni znanstveni članak

https://doi.org/10.3325/cmj.2019.60.273

Y-chromosome haplogroup architecture confers susceptibility to azoospermia factor c microrearrangements: a retrospective study

Maja Kuzmanovska ; Research Center for Genetic Engineering and Biotechnology“Georgi D. Efremov,” Macedonian Academy of Science and Arts,Skopje, North Macedonia
Predrag Noveski ; Research Center for Genetic Engineering and Biotechnology“Georgi D. Efremov,” Macedonian Academy of Science and Arts,Skopje, North Macedonia
Marija Terzic ; Research Center for Genetic Engineering and Biotechnology“Georgi D. Efremov,” Macedonian Academy of Science and Arts,Skopje, North Macedonia
Toso Plaseski ; Metabolic Disorders, Faculty ofMedicine, Skopje, North MacedoniaClinic of Endocrinology and
Katerina Kubelka-Sabit ; Clinical Hospital “Acibadem Sistina,” Skopje, North Macedonia
Vanja Filipovski ; Clinical Hospital “Acibadem Sistina,” Skopje, North Macedonia
Slobodan Lazarevski ; Clinical Hospital “Acibadem Sistina,” Skopje, North Macedonia
Emilija Sukarova Stefanovska ; Research Center for Genetic Engineering and Biotechnology“Georgi D. Efremov,” Macedonian Academy of Science and Arts,Skopje, North Macedonia
Dijana Plaseska-Karanfilska orcid id orcid.org/0000-0001-8877-2416 ; Research Center for Genetic Engineering and Biotechnology“Georgi D. Efremov,” Macedonian Academy of Science and Arts,Skopje, North Macedonia

Puni tekst: engleski pdf 721 Kb

str. 273-283

preuzimanja: 364

citiraj

Sažetak

Aim To assess the association between azoospermia factor
c microrearrangements and semen quality, and between
Y-chromosome background with distinct azoospermia
factor c microrearrangements and semen quality impairment.
Methods This retrospective study, carried out in the Research
Center for Genetic Engineering and Biotechnology
“Georgi D. Efremov,” involved 486 men from different ethnic
backgrounds referred for couple infertility from 2002-
2017: 338 were azoospermic/oligozoospermic and 148
were normozoospermic. The azoospermia factor c microrearrangements
were analyzed with sequence tagged
site and sequence family variant markers, quantitative fluorescent
polymerase chain reaction, and multiplex ligation
probe amplification analysis. The Y-haplogroups of all participants
were determined with direct single nucleotide
polymorphism typing and indirect prediction with short
tandem repeat markers.Results Our participants had two types of microdeletions:
gr/gr and b2/b3; three microduplications: b2/b4, gr/gr,
and b2/b3; and one complex rearrangement gr/gr deletion
+ b2/b4 duplication. Impaired semen quality was not
associated with microrearrangements, but b2/b4 and gr/
gr duplications were significantly associated with haplogroup
R1a (P < 0.001 and P = 0.003, respectively) and b2/b3
deletions with haplogroup E (P = 0.005). There were significantly
more b2/b4 duplication carriers in Albanians than in
Macedonians with haplogroup R1a (P = 0.031).
Conclusion Even though azoospermia factor c partial
deletions/duplications and Y-haplogroups were not associated
with impaired semen quality, specific deletions/
duplications were significantly associated with distinct
haplogroups, implying that the Y chromosome background
may confer susceptibility to azoospermia factor c
microrearrangements.

Ključne riječi

Hrčak ID:

240094

URI

https://hrcak.srce.hr/240094

Datum izdavanja:

15.6.2019.

Posjeta: 914 *