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The Vertebral Artery Hypoplasia - New Mendelian Condition? Preliminary Report (CROSBI ID 484389)

Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija

Demarin, Vida ; Lovrenčić-Huzjan, Arijana ; Bosnar Puretić, Marijana ; Vuković, V. ; Kesić, M. ; Škarić-Jurić, Tatjana The Vertebral Artery Hypoplasia - New Mendelian Condition? Preliminary Report // Cerebrovascular Diseases (Abstracts), 11: Suppl.3. 2001. str. 45.-x

Podaci o odgovornosti

Demarin, Vida ; Lovrenčić-Huzjan, Arijana ; Bosnar Puretić, Marijana ; Vuković, V. ; Kesić, M. ; 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 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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Podaci o prilogu

45.-x.

2001.

objavljeno

Podaci o matičnoj publikaciji

Cerebrovascular Diseases (Abstracts), 11: Suppl.3

Podaci o skupu

&#8220 ; 6th Meeting of the European Society of Neurosonology and Cerebral Hemodynamics&#8221 ; and &#8220 ; 9th Meeting of the Neurosonology Research Group of the World Federation of Neurology&#8221 ;

poster

13.05.2001-15.05.2001

Lisabon, Portugal

Povezanost rada

Kliničke medicinske znanosti, Etnologija i antropologija