[The Slovak gypsies (Romany)--a population with the highest coefficient of inbreeding in Europe].
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Biomedical subjects
Publications and source records attributed to V Ferák.
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This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmitted by autosomal recessive inheritance in Gypsies the gene frequency may be estimated to reach 2.8%. Early onset of the disease enabling diagnosis soon after birth in 82% of patients may be considered another characteristic of this type of primary congenital glaucoma.
This paper deals with some other population genetic aspects associated with the incidence of a type of primary congenital glaucoma that occurs very frequently in the Gypsy population of Slovakia. In addition to the decreased fertility of affected individuals of Gypsy origin being determined, the relative reproduction fitness and the selection coefficient against this disease were estimated. An increased number of kinship intermarriages in parents of the patients were recorded, namely in the Gypsy group (45.6%). The average inbreeding coefficient for the Gypsy group (F = 0.0091) and the non-Gypsy group (F = 0.0030) was calculated. Based on the high frequency of primary congenital glaucoma in a relatively small Gypsy subpopulation and on data about their origin, immigration, and settlements in the territory of Slovakia, the authors consider a special case of gene drift--the founder effect--to be the most plausible explanation of the given fact.
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The frequency of fluorescent Y chromatin bodies was studied in white blood cells of 30 newborn males during the first 5 days of life. No significant day-to-day changes were observed within the neonatal period (Tab. I). This finding indicates that the changes of both X and Y chromatin frequency reported previously for buccal mucosa cells of newborn infants have no profound biological significance, and that they are due to the condition of buccal mucous cells in the neonatal period which renders these cells less suitable for sex chromatin determination.
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Frequency of the fluorescent Y-chromatin bodies in the white blood elements of aged men was found to be significantly lower than that of young men (aged: N=35, mean frequency 68,78%; young: N=47, mean frequency 75,96%). This finding indicates that in the progressed age, the Y-chromosome tends to get lost from the cell, probably as a consequence of generalized functional im pairment of aged cell.
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