Izvorni znanstveni članak
Vertebral Artery Hypoplasia – Sex-Specific Frequencies in 36 Parent-Offspring Pairs
V. Demarin
T. Škarić-Jurić
A. Lovrenčić-Huzjan
M. Bosnar Puretić
V. Vuković
Sažetak
The major interest in vertebral artery (VA) hypoplasia comes from its possible connection
to migraines with aura as well as from the fact that it is one of the risk factors
for a stroke. Therefore, the aim of this preliminary study was to investigate the mode of
inheritance of VA hypoplasia. Initially, color Doppler of VA was performed in 64 firstand
second-degree relatives of 33 probands, and the presence of VA hypoplasia was confirmed
according to the already established criteria. Since a higher prevalence of VA
hypoplasia (15.6%) in probands’ relatives in comparison with 2.34% in the general population
of Croatia was indicative of a strong familial predisposition for this condition,
an analysis of family data by means of Pearson’s chi-square statistics has been performed.
In this analysis, the observed sex-specific frequencies of 36 parent-offspring
pairs composed only of affected parent and his/her (affected or non-affected) offspring
are compared to the frequencies as expected under eight proposed models. For both –
autosomal and X-linked monogenetic inheritance – four hypotheses have been chosen,
assuming that the individuals having the affected allele (in combination with a healthy
one) have 100%, 50%, 40% and 0% chances of developing VA hypoplasia. Out of eight
tested models only two – completely dominant and completely recessive X-linked models
– were rejected. But, from the six non-rejected models, goodness-of-fit statistics showed
that the hypothesis of X-linked inheritance of VA hypoplasia with the »healthy« allele being
stronger (60% effect on phenotype) – almost perfectly fit the data ( 2 = 2.0023; df = 7;
p = 0.9597). Further research encompassing a more enlarged family sample is needed to
confirm the present findings.
Ključne riječi
Hrčak ID:
28436
URI
Datum izdavanja:
17.12.2001.
Posjeta: 1.719 *