THE VERTEBRAL ARTERY HYPOPLASIA - NEW MENDELIAN CONDITION? PRELIMINARY REPORT (CROSBI ID 739225)
Prilog sa skupa u časopisu | izvorni znanstveni rad
Podaci o odgovornosti
Demarin, Vida ; Lovrenčić Huzjan, Arijana ; Bosnar Puretić, Marijana ; Vuković, Vlasta ; Kesić, Miljenka ; Škarić-Jurić, Tatjana.
engleski
THE VERTEBRAL ARTERY HYPOPLASIA - NEW MENDELIAN CONDITION? PRELIMINARY REPORT
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.
vertebral artery hypoplasia; inheritance
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Podaci o prilogu
174-x.
2001.
nije evidentirano
objavljeno
Podaci o matičnoj publikaciji
Cerebrovascular diseases
1015-9770
Podaci o skupu
Nepoznat skup
ostalo
29.02.1904-29.02.2096
Povezanost rada
Kliničke medicinske znanosti, Etnologija i antropologija