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Analiza povezanosti haplogrupa i haplotipova bialelnih i multialelnih biljega na kromosomu Y s muškom neplodnošću (CROSBI ID 343026)

Ocjenski rad | doktorska disertacija

Drmić, Irena Analiza povezanosti haplogrupa i haplotipova bialelnih i multialelnih biljega na kromosomu Y s muškom neplodnošću / Grahovac, Blaženka (mentor); Zagreb, Medicinski fakultet u Zagrebu, . 2003

Podaci o odgovornosti

Drmić, Irena

Grahovac, Blaženka

hrvatski

Analiza povezanosti haplogrupa i haplotipova bialelnih i multialelnih biljega na kromosomu Y s muškom neplodnošću

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.

kromosom Y; haplogrupe i haplotipovi; bialelni biljezi; mikrosateliti; nepolodnost

nije evidentirano

engleski

The relationship between Y chromosome haplogroups and haplotypes and male infertility

nije evidentirano

Y chromosome haplogroups and haplotypes; bialelic markers; microsatellite markers; male infertility

nije evidentirano

Podaci o izdanju

102

15.10.2003.

obranjeno

Podaci o ustanovi koja je dodijelila akademski stupanj

Medicinski fakultet u Zagrebu

Zagreb

Povezanost rada

Temeljne medicinske znanosti