INTRODUCTION: Our study of genetic homozygosity degree includes an analysis of the presence, distribution and individual combination of 15 selected genetically controlled morphophysiological traits in the sample of patients with spinal dysraphia (N=35) and in the control-healthy group (N=50). OBJECTIVE: Assuming that spinal dysraphia is a genetically controlled disease, we made a hypothesis that an increased homozygosity level, as well as the changed variability among patients, could be a population-genetic parameter for the prediction of the illness. METHOD: Taking into consideration our experience, as well as the experience of numerous scientists who studied the nature of the inheritance of mono- and oligo-genically controlled qualitative traits, we applied a methodology to estimate the proportion of such homozygously recessive characters (HRC-test,). RESULTS: This population-genetic study did not only show a statistically significant difference of the mean values of genetic homozygosity (SD 4.8 +/- 0.3; control 3.5 +/- 0.3), but of the differences in the type of distribution too, as well as the differences in the presence of certain individual combinations of such traits. CONCLUSION: Due to the fact that those genes which control such qualitative recessive traits are distributed in different human chromosomes, being their visible markers, this could indicate that degrees of genetic homozygosity are ostensibly greater in a sample of patients with spinal dysraphia compared to the control group of individuals.
INTRODUCTION: Our study of genetic homozygosity degree includes an analysis of the presence, distribution and individual combination of 15 selected genetically controlled morphophysiological traits in the sample of patients with spinal dysraphia (N=35) and in the control-healthy group (N=50). OBJECTIVE: Assuming that spinal dysraphia is a genetically controlled disease, we made a hypothesis that an increased homozygosity level, as well as the changed variability among patients, could be a population-genetic parameter for the prediction of the illness. METHOD: Taking into consideration our experience, as well as the experience of numerous scientists who studied the nature of the inheritance of mono- and oligo-genically controlled qualitative traits, we applied a methodology to estimate the proportion of such homozygously recessive characters (HRC-test,). RESULTS: This population-genetic study did not only show a statistically significant difference of the mean values of genetic homozygosity (SD 4.8 +/- 0.3; control 3.5 +/- 0.3), but of the differences in the type of distribution too, as well as the differences in the presence of certain individual combinations of such traits. CONCLUSION: Due to the fact that those genes which control such qualitative recessive traits are distributed in different human chromosomes, being their visible markers, this could indicate that degrees of genetic homozygosity are ostensibly greater in a sample of patients with spinal dysraphia compared to the control group of individuals.
Authors: Dp Nikolic; S Cvjeticanin; I Petronic; R Brdar; D Cirovic; M Bizic; Z Milincic; R Karan Journal: Balkan J Med Genet Date: 2011-06 Impact factor: 0.519