15 research outputs found
Degree of genetic homozygosity and distribution of AB0 blood types among patients with spina bifida occulta and spina bifida aperta
Distribution of affected muscles and degree of neurogenic lesion in patients with spina bifida
Quantitative analysis of the dystrophin gene by real-time PCR
Duchenne and Becker muscular dystrophy (DMD/BMD) are severe X-linked neuromuscular disorders caused by mutations in the dystrophin gene. Our aim was to optimize a quantitative real-time PCR method based on SYBR® Green I chemistry for routine diagnostics of DMD/BMD deletion carriers. Twenty female relatives of DMD/BMD patients with previously detected partial gene deletions were studied. The relative quantity of the target exons was calculated by a comparative threshold cycle method (ΔΔCt). The carrier status of all subjects was successfully determined. The gene dosage ratio for non-carriers was 1.07±0.20, and for carriers 0.56±0.11. This assay proved to be simple, rapid, reliable and cost-effective
Anthropogenetic variability in the groups of homo- and heterosexually oriented individuals
This population-genetic study compares morphophysiological and genetic
variability in a group of homosexually oriented individuals from Serbia
(N=96) with control group of heterosexual individuals (N=96) using a test of
determination of homozygously recessive characteristics in humans (HRC-test).
Results of our study revealed a statistically significant difference in the
mean values of genetic homozygosity (control group 5.0+0.2 ; homosexuals 3.4
+0.1 HRCs, out of 20 observed characteristics) the differences in the
distribution type, as well as in the variances of presence of specific
combinations of such traits. These results suggest a complex polygenic
difference between two observed systems. There is no difference in the degree
of genetic homozygosity between the genders in each tested group of
individuals. However, both homosexually oriented females and males have
significantly lower mean values of HRCs compared to female and male
heterosexuals. [Projekat Ministarstva nauke Republike Srbije, br. 175093
Anthropogenetic variability in groups of children from regular and special schools from different localities in Serbia
This population-genetic study compares morpholophysiological and genetic
variability in five control groups of individuals (children from five regular
schools, N= 996) with children from that many special schools (N= 736) from
Serbia, by using a test of determination of homozygously recessive
characteristics in humans (HRC-test). Genetic homozygosity degree showed not
only statistically significant difference between the mean values obtained
for two groups of studied samples (control group 6.95± 0.07; children from
special schools 8.63± 0.08 HRCs, out of 30 analyzed characteristics), but
also differences in the type of distribution, as well as the presence of
specific combinations of such traits. Results of comparisons done in
different places (Kraljevo, Nis, Vranje, Leskovac, Pirot) showed the same
tendency- the increase of genetic homozygosity and relative decrease of
variability in samples of children from special schools. The number of HRCs
among individuals from control groups varied from 2 to 15/30, and from 3 to
16/30 among children from special schools. It is possible that increased
recessive homozygosity present in the group of children from special schools
leads to increase of genetic loads, what may cause easier expression of some
physiological and mental abilities that children from special schools have.A
great individual variation in amount of genetic homozygosity that exists
among human individuals may influence their potentials for different kinds of
adaptation, including their mental abilities, physical capacities or
resistance to different diseases. [Projekat Ministarstva nauke Republike
Srbije, br. 175093
Morphogenetic variability and genetic loads among patients with different expression of developmental hip dysplasia
Morphogenetic Variability and Hypertension in Ischemic Stroke Patients—Preliminary Study
In this study, we evaluated and compared the morphogenetic variability and the degree of recessive homozygosity in patients with manifested ischemic stroke compared to healthy controls. We have evaluated 120 patients with manifested ischemic stroke, of which 64 did not have hypertension and 56 have hypertension. For comparison, we additionally tested 194 healthy individuals without manifested ischemic stroke (controls). For the estimation of the degree of recessive homozygosity, we have performed the homozygously recessive characteristics (HRC) test and tested 19 HRCs. There was a significant difference in the individual variations of 19 HRCs between the controls and patients with manifested ischemic stroke (∑χ2 = 60.162, p < 0.01). The mean values of the tested HRCs significantly differed between the controls and group with manifested ischemic stroke (Controls − 5.71 ± 1.61, Ischemic stroke group − 6.25 ± 1.54, p = 0.012). For the tested individuals with hypertension, the mean values of HRCs did not significantly differ between the controls and those that had manifested ischemic stroke (Controls − 5.28 ± 1.75, Ischemic stroke group − 5.64 ± 1.48, p = 0.435). We found a significant difference in the frequencies of HRCs between those with and without hypertension for controls (p < 0.003) and for those with manifested ischemic stroke (p < 0.001). There are increased degrees of recessive homozygosity along with decreased variability in patients with manifested ischemic stroke compared to controls
Anthropogenetic Variability in the Group of Individuals with Febrile Seizures: Population-Genetic Study
Febrile seizures (FS) are the most common neurological disorder in childhood and are a great stress for parents due to their dramatic clinical appearance. Using test for determination of homozygously recessive characteristics in humans (HRC test) we analyzed presence, distribution, and individual combination of 20 selected genetically controlled morphophysiological traits among FS patients (N=121) and control (N=121) to determine a possible deviation in the homozygosity level and genetic loads in the group of affected children and whether there is a predisposition to the occurrence of FS. The results of our study show a statistically significant difference in the mean values of the HRC tested (x¯HRC/20 CN = 3.2 ± 0.2; x¯HRC/20 FS = 4.6 ± 0.2, t= 5.74 , p< 0.0001), as well as in the distribution and variability of two studied samples (VC=55,3%, VFS= 39,6%), which indicates a complex polygenic difference among the tested groups of subjects. The differences in the degree of genetic homozygosity and variability are also present between the genders (t Cf/FSf = 4.12; t Cm/FSm = 3.98; p <0.0001) (VCf=56.9%, VFSf= 39.3%; VCm=54.1%, VFSm=40.1%). Obtained results indicate the enlargement of recessively homozygous genetic loads in the group of children with FS which may represent some kind of predisposition for expressivity of this type of seizures
Genetic and Environmental Dispositions for Cardiovascular Variability: A Pilot Study
Background: The aim of our study was to evaluate the degree of genetic homozygosity in the group of patients with coronary artery disease (CAD), as well as to evaluate morphogenetic variability in CAD patients regarding the presence of investigated risk factors (RF) compared to a control sample of individuals. Additionally, we aimed to evaluate the distribution of ABO blood type frequencies between tested samples of individuals. Methods: This study analyzed individual phenotype and morphogenetic variability of 17 homozygously-recessive characteristics (HRC), by using HRC test in a sample of 148 individuals in CAD patients group and 156 individuals in the control group. The following RF were analyzed: hypertension, diabetes mellitus, hyperlipidemia, and smoking. Results: The mean value of HRC in CAD patients is significantly higher, while variability decreases compared to the control sample (CAD patients: 4.24 ± 1.59, control sample: 3.75 ± 1.69; VCAD-patients = 37.50%, VC = 45.07%). There is a significant difference in individual variations of 17 HRC between control sample and CAD patients (χ2 = 169.144; p < 0.01), which points out to different variability for tested genes. Mean values of HRC significantly differed in CAD patients in regard to the number of RF present. A blood type (OR = 1.75) is significant predictor for CAD, while O blood type (OR = 0.43) was significantly associated with controls. Conclusion: There is a higher degree of recessive homozygosity in CAD patients versus individuals in the control sample, and the presence of significant variations in the degree of recessive homozygosity as the number of tested RF increases