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Genetic study of X-linked recessive ichthyosis in eastern Ukraine
SUMMARY. X-linked recessive ichthyosis (OMIM 308100) is a form of ichthyosis that is caused by abnormal keratinization and can result in disability, social disadaptation and reduced quality of life of patients and their families. In most cases it is caused by a complete or partial deletion of the steroid sulfatase gene (STS). The study estimates the prevalence of X-linked recessive ichthyosis, inbreeding coefficient (or fixation index) FST and selection coefficient in people of eastern Ukraine (namely, Kharkiv region). Genealogical method was used to assess the genetic structure of fa-milies with a history of the disease. Fluorescent in situ hybridization (FISH) was performed to detect the deletion of the STS gene in patients and their relatives. The prevalence of the disease in eastern Ukraine was 1,5 · 10–4 males, with the interval between 4,9 · 10–5 and 4,9 · 10–4 ma-les in different districts and between 2,2 ∙ 10–4 males in the town of Krasnograd and 3,7 ∙ 10–3 males in a village of Balakliia district. A positive correlation was found between the load of X-linked recessive ichthyosis and the inbreeding coefficient Fst in all the studied districts (r = 0,976). For the past ten years, the inbreeding coeffi-cient Fst in most districts of the region increased 1,8 times and the prevalence of X-linked recessive ichthyosis increased 1,4–4,3 times. The clinical genealogical ana-lysis of 9 large families revealed no females with X-linked recessive ichthyosis among relatives of probands, but there were 21,4 % (n = 14) among first degree male relatives and 12,0 % (n = 25) among second degree male relatives. FISH study detected an interstitial deletion of the STS gene ish del(X)(p22.31p22.31)(STS-), but not gene KAL1 deletions in most of patients and their mothers from eastern Ukraine. Males with X-linked recessive ichthyosis had 2,5 times lower mean number of children per person than their healthy relatives, and they had prevalence of female offspring over males one in the ratio 3 : 1. Female obligate heterozygotes had both normal mean number of children per person and sex ratio in the offspring – 2,2 and 1 : 1, respectively.
Key words: X-linked recessive ichthyosis, prevalence, inbreeding, deletion, STS gene
E-mail: omfedota karazin.ua, okkvd1 ukr.net, sadovnychenko gmail.com, geneticsj yandex.ru, irina.nik.mer gmail.com
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