Naslov
THE VERTEBRAL ARTERY HYPOPLASIA - NEW MENDELIAN CONDITION? PRELIMINARY REPORT

Autori
Demarin, Vida ; Lovrenčić Huzjan, Arijana ; Bosnar Puretić, Marijana ; Vuković, Vlasta ; Kesić, Miljenka ; Škarić-Jurić, Tatjana.

Izvornik
Cerebrovascular diseases (1015-9770) 11 (2001), 3;

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
vertebral artery hypoplasia; inheritance

Sažetak
The aim of the study was to investigate the mode of inheritance of vertebral artery (VA) hypoplasia. Color Doppler (CD) of VA was performed to confirm VA hypoplasia according to already established criteria. We investigated 33 families (97 individuals) with at least one member having hypoplaskic VA. A higher prevalence of VA hypoplasia among relatives of probands was found - 15.6°% in comparison to 2.34 in general populations. The genetic analysis has been performed using the sex-specific frequencies of 36 parent-Offspring (PO) pairs composed only of affected parents and their (affected or non-affected) offspring. The hypothesis of X-linked dominant inheritance of VA hypoplasia was assumed and three variants of X-linked model have been designed and tested. Goodness-of fit statistics showed that co dominant model with healthy allele being stronger (60% effect on phenotype) is the most probable one (~ = 1, 94~ p < 0, 96). Follows co-dominant (50%: 50% effects) with X2 = 4 17, p < 0, 76, and less probable the complete dominant variant (X2 =11, 85 ; p< 0, 11). Preliminary results suggest the mode of inheritance of VA hypoplasia as condition determined by X-linked inheritance with codominant effect. Further research encompassing research completed family sample is needed.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti, Etnologija i antropologija

POVEZANOST RADA