Naslov
Analiza povezanosti haplogrupa i haplotipova bialelnih i multialelnih biljega na kromosomu Y s muškom neplodnošću
(The relationship between Y chromosome haplogroups and haplotypes and male infertility)

Autori
Drmić, Irena

Vrsta, podvrsta i kategorija rada
Ocjenski radovi, doktorska disertacija

Fakultet
Medicinski fakultet Zagreb

Mjesto
Zagreb

Datum
15.10

Godina
2003

Stranica
102

Mentor
Grahovac, Blaženka

Ključne riječi
kromosome Y; haplogrupe i haplotipovi; bialelni biljezi; mikrosateliti; neplodnost
(Y chromosome haplogroups and haplotypes; bialelic markers; microsatellite markers; male infertility)

Sažetak
Five bialelic (M9, 92R7, 12f2, SRY1532 and YAP) and six microsatellite (DYS19, DYS385, DYS389II, DYS390, DYS391 and DYS393) Y chromosome polymorphism were determined in a sample of 75 patients with idiopathic infertility, and two control groups composed of 100 randomly selected males, and 100 fertuile Croatian men. Combination of six biallelic markers yielded six haplogroups(HG) in a random population. Haplogroups 3 and 2 were most frequent (34% and 28% respectively), whereas haplogroups 2 and 3 were most frequent among fertile controls (58 and 28% respectively). The remaining haplogroups (1, 9 and 21) were not very frequent, while HG 26 was n ot observed. Among infertile patients analysed, we found that HG 9 is most represented (28%), followed by HG 2 (20%), HG1 (17, 3%), HG 3 (14, 7%), and HG 21 (9, 3%). Haplogroup 26 was observed in eight samples (10, 7%). Overall, 79 haplotypes were observed in general population, 72 in fertile man and 63 haplotype among infertile patients. Differences of mocrosatellite molecular variance and genetic distance analysis were significant in DYS385, DYS389II, DYS390 and DYS391, loci for all populations. The highest difference was observed between fertile and infertile samples in DYS385, DYS 389II, DYA390, DYS391 loci (p<0, 001). Two cluster were observed in the population structure analysis of infertile patients ; the genetic difference was lowe in this group compared with two control populations.Higher frequencies of HG 9 and 26 suggest that those groups may be at risk for infertility.

Izvorni jezik
Hrvatski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA