Markevych N. Nijmegen breakage syndrome in the West Ukraine.

Object - probands Nijmegen breakage syndvom and their families; aim - to study freguency and clinical - genetic characteristics of Nijmegen breakage syndrom in Western part of Ukraine and to work out recommendations to diagnostics of Nijmegen breakage syndrom; methods - clinical, clinical - enidimological, molecular - genetic, statistic; novelty - It has been worked the algorithm of selective screening, clinical, clinical - genealogical, clinical - immunological, molecular - genetis, cytogenetic and prenatal diagnostics; results - allelic polymorphism of gene IL - 10 as possible marker of lymphocytes disposition to onogenis transformation was determined. The freguency of homozygous and heterozydous carrying of typical mutation NBS1 in Lviv population was entablished; hield - genetics.