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 hypoplastic VA. A higher prevalence of vertebral artery (VA) hypoplasia among relatives of probands was found - 15, 6% in comparison to 2, 34 in general population. 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 (&#967 ; 2 = 1, 94 ; p < 0, 96). Follows co-dominant variant (50%: 50% effects) with &#967 ; 2 = 4, 17, p < 0, 76, and less probable is the complete dominant variant assuming complete dominance of "hypoplastic" allele (&#967 ; 2 = 11, 85 ; p< 0, 11). Presented results suggest the mode of inheritance of VA hypoplasia as condition determined by X-linked inheritance with co-dominant effect. Further research encompassing more enlarged family sample is needed.

vertebral artery hypoplasia; color Doppler; family data; x-linked inheritance; Mendelian trait

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