Scientific journal
Научное обозрение. Медицинские науки
ISSN 2500-0780
ПИ №ФС77-57452

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PREVALENCE MONOGENETIC SYNDROMES OF MULTIPLE CONGENITAL MALFORMATIONS IN POPULATION OF ROSTOV REGION (RUSSIA)

Ponomareva T.I. 1 Amelina S.S. 1 Zinchenko R.A. 2
1 Southern federal university
2 Research Centre for Medical Genetics
Results of epidemiological studying monogenetic syndromes of multiple congenital malformations (MSMCM) in 12 districts of the Rostov Region (Tsimljansky, Volgodonsky, Tselinsky, Egorlyksky, Millerovsky, Tarasovsky, Rodionovo-Nesvetajsky, Matveevo-Kurgan, Dubovsky, Zimovnikovsky, Krasnosulinsky, Mjasnikovsky) are reviewed. The total size of the investigated population has 497460 persons. In total 228 patients from 172 family presumably with MSMCM are registered. Segregation analysis demonstrated good agreement between the observed and expected segregation frequencies for both autosomal recessive (AR) and autosomal dominant (AD) types of MSMCM. Prevalence rate of MSMCM (AD, AR and X-linked (X-link)) was calculated for the population of 12 districts of the Rostov Region, separately for urban and rural populations. The common prevalence rate was compounded for AD forms of MSMCM – 0,56±0,17 for urban population and 3,17±0,33 – for rural. For AR forms i of MSMCM t was – 0,20±0,10 for urban and 0,93±0,18 – for rural population. For X-link forms of MSMCM it was 0,20±0,14 for urban and 0,67±0,21 for rural population. At comparison of the received data of prevalence of AD and AR forms of MSMCM on districts statistically authentic differences more expressed between urban and rural populations have been taped. Correlation analysis (on Pearson) dependences of load MSMCM (AD, AR, total) from value of casual inbreeding Fst (estimated in 19 subpopulation), shown high value of quotients of correlations is carried out. Comparative analysis of total prevalence rate of MSMCM revealed significant differences with the total prevalence rates of MSMCM in other regions of the Russian Federation.