This is a pilot study, intending to describe the carriers of hereditary disease analysing genomic structural variations of the healthy Lithuanians. Array comparative genomic hybridization method was used to describe DNA copy number variations (CNVs) of the healthy population (73 males, and 73 females). The data was collected during the project PROGENET accomplished by Vilnius University department of Human and Medical Genetics.
In his study 83847 CNVs were analyzed. The results showed that statistically significantly CNVs are more common in men than in women (p<0.001). From all CNVs the del etions were sel ected for further analysis (totally 28513). 16988 (59.6%) deletions were detected in a noncoding DNA. The majority (98.2%) of the deletions were small (<50 kb). On the average, 95+11 genes were within deletions in every person, 54+7 of these genes were disease genes. Quality control was estabjished by
applying the heuristic algorithm for the exclusion of uncertain deletions from fur-ther study. 65 genes associated with 103 diseases were chosen for the final analysis. These disorders were organized into the groups using IDC-10 coding letter. Most frequent diseases were: endocrine, nutritional and metabolic diseases (19%), diseases of the blood and blood-forming organs (14%), diseases of the nervous system (13%). 6% of genes were associated with the resistance to diseases.
The results of this study are initial and should be verified by the further studies.
