| Abstract (croatian) | Cilj: U radu je istražena učestalost varijanata konstitutivnog heterokromatina (KH) u
osoba s različitim poremećajima reprodukcije (primarni ili sekundarni sterilitet, jedan ili više
spontanih pobačaja), te kliničkim dijagnozama kriptorhizma ili hipogonadizma, gojaznosti ili ginekomastije.
Metode: Prisutnost kromosomskih heteromorfizama procijenjena je u 499 osoba
tijekom rutinske kariotipizacije izvedene na GTG-opruganim metafaznim kromosomima dobivenim
iz fitohemaglutininom stimuliranih limfocita periferne krvi. Rezultati: Varijante KH-a u pronađene
su u 22,6 % ispitanika. Najviša je učestalost nositelja zabilježena u skupini s primarnim
sterilitetom (28,7 %) i značajno je viša negoli u skupini s dva ili više spontanih pobačaja (15,4 %)
(OR = 2,209; CI = 1,175 – 4,153; P = 0,014). Od pojedinačnih varijanata najčešće su zabilježene
varijacije D-grupe kromosoma (9,6 %), a slijede varijante 9qh, Yqh, 16qh, varijante G-grupe i 1qh
(5,1 %, 4,9 %, 4,0 %, 2,7 % i 2,0 %). Varijanta heterokromatina inv(9) pojavljuje se učestalošću od
1,6 %. Budući da su pojedini ispitanici (6,5 %) nositelji multiplih varijanata, ukupan broj varijanata
u pojedinim dijagnostičkim skupinama varira između 20,2 % i 39,6 %. Ponovno, najviša je učestalost
u skupini s primarnim sterilitetom (39,6 %), dok je najniža u skupini s dva i više spontanih
pobačaja (20,2 %) (OR = 2,595; CI = 1,465 – 4,598; P = 0,001). Zaključak: Značajno viša učestalost
kromosomskih heteromorfizama u osoba s primarnim sterilitetom podupire hipotezu prema kojoj
kromosomski heteromorfizmi nisu bezazlene varijante, već bi mogli, mehanizmima koje ne
razumijemo u potpunosti, umanjivati reproduktivnu sposobnost čovjeka. |
| Abstract (english) | Aim: The frequency of heterochromatin variants was determined in the group of patients
with defective reproductive fitness (primary or secondary sterility, history of one or more
spontaneous abortions), in those with clinical diagnoses of cryptorchidism or hypogonadism,
and obesity or gynecomastia. Methods: The chromosomal heteromorphisms were evaluated in
447 individuals during routine karyotipization on GTG-banded metaphase slides prepared from
phytohemaglutinin-stimulated peripheral blood lymphocytes. Results: The overall frequency of
heterochromatin variants was 22.6 %. The highest frequency of variants was determined in the
primary sterility group (28.7 %). The difference was statistically significant in comparison with
the two or more – spontaneous abortion group (15.4 %) (OR=2,209; CI=1,175-4,153; P=0,014).
The most frequent were D-group chromosomal variants (9,6 %) followed by 9qh, Yqh, 16qh, Ggroup
variants and 1qh ((5,1 %, 4,9 %, 4,0 %, 2,7 % and 2,0 %, respectively). The variant inv(9)
was represented with 1.6 %. Because 6,5 % of subjects in the study carried multiple variants in
their karyotype, the total number of variants between diagnoses varied between 20,2 % and
39,6 %. The highest frequency of variants was observed in the primary sterility group (39,6 %). It
was significantly different when compared to the two or more – spontaneous abortion group
(20,2 %) (OR=2,595; CI=1,465-4,598; P=0,001). Conclusion: Significantly higher frequency of
chromosomal heteromorphisms in individuals with primary sterility supports the view of chromosomal
variants being not harmless variants. By mechanism(s) not fully understood yet, chromosomal
heteromorphisms might decrease the reproductive fitness in humans. |
