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Heteromorphisms of human chromosomes in reproductive disorders

Alena Buretić-Tomljanović orcid id orcid.org/0000-0002-9840-1245 ; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka
Andrea Šverko ; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka


Puni tekst: hrvatski pdf 407 Kb

str. 62-70

preuzimanja: 1.015

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Sažetak

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.

Ključne riječi

chromosomal heteromorphisms; growth and development retardation: hypogonadism; pathological pregnancy; recurrent spontaneous abortions; sterility

Hrčak ID:

98611

URI

https://hrcak.srce.hr/98611

Datum izdavanja:

4.3.2013.

Podaci na drugim jezicima: hrvatski

Posjeta: 1.790 *