Autosomal STR loci involved in exclusion during kinship expertise in the population of the Tyumen region

2021 ◽  
Vol 22 (2) ◽  
pp. 17-19
Keyword(s):  
Capillary Electrophoresis ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Str Loci ◽  
Autosomal Str ◽  
Group I ◽  
Group Ii ◽  
Its Polymorphism

Aim. To conduct an analysis of STR-loci in cases of exclusion during the paternity expertise, analyze the distribution of their frequencies. Materials and methods. 364 paternity expertises (non-exclusion and exclusion) were studied, in which a molecular genetic study of the blood of all participants was carried out by the method of capillary electrophoresis. Results. Paternity was excluded out of 364 examinations in 72 cases. Of these, in 68 cases, samples for research were taken from the mother, the alleged father and the child. Groups I and II were formed. Group I included examinations in which both the mother and the child were born in the Tyumen region (53 cases). Group II included examinations in which either the mother or the child was born outside the Tyumen region (15 cases). The frequency of distribution of the loci involved in exclusion and the most frequent alleles among those found were determined. Conclusion. It was found that the role of a locus in exclusion cases does not directly depend on its polymorphism and / or frequency of mutations. Establishing the loci most often involved in excluding kinship allows the use of predominantly such more informative loci or panels containing such loci when investigating kinship in a particular geographic locality.

scholarly journals The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Pongsakorn Choochuen ◽  
Kitiwan Rojneuangnit ◽  
Thanitchet Khetkham ◽  
Sookkasem Khositseth
Keyword(s):  
Genetic Study ◽  
De Novo ◽  
Molecular Genetic ◽  
Osteoclast Differentiation ◽  
Female Adolescent ◽  
De Novo Mutation ◽  
Molecular Genetic Study ◽  
Stage Renal Disease ◽  
End Stage

Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by aggressive osteolysis associated with progressive nephropathy. The early clinical presentation can mimic polyarticular juvenile idiopathic arthritis. Since 2012, MAFB mutations have been discovered in all MCTO patients. Therefore, the early diagnosis can be made based on genetic confirmation. We report the clinical manifestation of mineral bone disease and the molecular genetic study of a Thai female adolescent with MCTO. She presented with end-stage renal disease, bilateral wrist and ankle joint deformities, and subtle facial dysmorphic features. We identified a heterozygous missense MAFB mutation at nucleotide 197 from C to G (NM_005461.4; c.197C>G), predicting the change of amino acid at codon 66 from serine to cysteine (p.Ser66Cys), and the mutation was absent in the parents, indicating a de novo mutation. This report confirms the previous link between MAFB mutation and MCTO. Her unexplained hypercalcemia after a regular dose of calcium and active vitamin D supported an important role of MafB in the negative regulation of RANKL-mediated osteoclast differentiation. Therefore, we would encourage the physicians who take care of MCTO patients to closely monitor serum calcium level and perform a genetic study as a part of the management and investigation.

New Methods in the Molecular Genetic Study and Treatment of Hearing Loss

1996 ◽  
Vol 5 (1) ◽  
pp. 83-89 ◽  
Author(s):  
Chris Halpin
Keyword(s):  
Hearing Loss ◽  
Clinical Diagnosis ◽  
Genetic Study ◽  
Basic Assumption ◽  
Molecular Genetic ◽  
Disease Status ◽  
Molecular Genetic Study ◽  
New Methods ◽  
Current State

In genetics, both discovery and methodology are advancing at an accelerating rate. As a result, the role of clinicians, and in this case clinical audiologists, must be re-examined from time to time to assure the sort of cooperation that will maximize results for both the investigators and the patients. This article will briefly review the current state of molecular genetic methodology and relate the assumptions inherent in such methods to the character of the clinical data needed from the audiologist inthese cases. The basic assumption of most molecular biologic investigations of ear disease is that a binary (yes or no) diagnosis can be made by the audiologists and physicians as to the disease status of each member of an affected family. The binary assumption gives rise to a number of clinical diagnosis issues not easily understood by molecular biologists, and these issues are discussed in order to facilitate progress in genetic cases.

scholarly journals MORPHOFUNCTIONAL STATE OF PLACENTA UNDER MYCOPLASMA INFECTION

2018 ◽  
Vol 1 (69) ◽  
pp. 43-49 ◽  
Author(s):  
Ольга Островская ◽  
Olga Ostrovskaya ◽  
Наталья Ивахнишина ◽  
Natalya Ivakhnishina ◽  
Ольга Кожарская ◽  
...  
Keyword(s):  
Genetic Study ◽  
Bacterial Load ◽  
Molecular Genetic ◽  
Mycoplasma Hominis ◽  
Reproductive Age ◽  
Premature Delivery ◽  
Molecular Genetic Study ◽  
Normal Microflora ◽  
Ureaplasma Spp

Literature data on the ethiopathogenetic role of Ureaplasma species, Mycoplasma hominis in the development of premature delivery is contradictory due to the fact that Mycoplasma may be part of the normal microflora of women of reproductive age. The article is aimed to reveal the peculiarities of morphofunctional state of the placentas infected with Mycoplasma. The placentas were obtained from women whose pregnancy ended prematurely. Morphological, histological and molecular genetic study of 34 placentas from maternity patients with premature delivery was performed. Molecular genetic study was carried out by real-time PCR. Ureaplasma spp. was detected as a part of mono- and mixed infections in a concentration of 10*2 to 10*6 GE/mL in 32.3% of cases. Mycoplasma hominis was detected in 23.5% of cases, in a concentration of 10*3 to 10*6 GE/mL. Inflammatory changes in the membranes and placenta were revealed in all cases of Ureaplasma spp. detection as a monoinfection regardless of the degree of bacterial load, which confirms the belief about the pathogenetic role of Ureaplasma spp. in the process of reproductive disorders formation.

scholarly journals Role of TNF α in the etiopathogenesis of PCOS: a clinical, biochemical and molecular genetic study

2014 ◽  
Vol 7 (Suppl 1) ◽  
pp. P94 ◽  
Author(s):  
Sujatha Thathapudi ◽  
Vijayalakshmi Kodati ◽  
Ahuja Raj ◽  
Uma Addepally ◽  
Anuradha Katragadda ◽  
...  
Keyword(s):  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Tnf Α

Genoprotective role of vitamin E and selenium in rabbits anaesthetized with sevoflurane

2004 ◽  
Vol 23 (8) ◽  
pp. 413-419 ◽  
Author(s):  
Cetin Kaymak ◽  
Ela Kadioglu ◽  
Hulya Basar ◽  
Semra Sardas
Keyword(s):  
Dna Damage ◽  
Vitamin E ◽  
Comet Assay ◽  
Antioxidant Supplementation ◽  
Group Iii ◽  
Sevoflurane Anaesthesia ◽  
Group I ◽  
The Mean ◽  
Group Ii

In this study, genotoxic effects of repeated sevoflurane anaesthesia were investigated in rabbits with or without antioxidant supplementation. Twenty-one New Zealand male rabbits were included in the study and randomized into three groups as: placebo treated (Group I), vitamin E supplemented (Group II) and selenium supplemented (Group III). Vitamin E and selenium were given intraperitoneally for 15 days before anaesthesia treatment. Anaesthesia was administered using 3% sevoflurane in 4 L/min oxygen for a 3-hour period and continued for 3 days. Blood samples were collected before anaesthesia (Sample 1), after the first, second and third days of sevoflurane administration (Sample 2, Sample 3 and Sample 4 respectively) and the last samples were taken 5 days after the last sevoflurane administration (Sample 5). Genotoxic damage was examined using the comet assay. The degree of damage is assessed by grading the cells into three categories of no migration (NM), low migration (LM) and high migration (HM) depending on the fraction of DNA pulled out into the tail under the influence of the electric field. The number of comets in each sample was calculated (1 × number of comets in category NM + 2 × number of comets in category LM + 3 ×number of comets in category HM) and expressed as the total comet score (TCS), which summarizes the damage frequencies. In Group I, a significant increase in the mean TCSs was observed for Samples 3 and 4 as compared with Sample 1. However, there were no significant differences between Samples 1, 2 and 5. The mean TCS of Sample 4 was significantly higher than Sample 1, 2 and 3 in Group II. Group III demonstrated no significant mean TCSs for any experimental conditions. Statistical differences were also observed between the groups with significant P values. This experimental study points out the presence of DNA damage with repeated sevoflurane anaesthesia and the genoprotective role of antioxidant supplementation on DNA damage in mononuclear leukocytes of rabbits by highly sensitive comet assay.

Dedifferentiated endometrial carcinomas with neuroendocrine features: a clinicopathologic, immunohistochemical, and molecular genetic study

2018 ◽  
Vol 72 ◽  
pp. 100-106 ◽  
Author(s):  
Iñigo Espinosa ◽  
Antonio De Leo ◽  
Emanuela D'Angelo ◽  
Juan M. Rosa-Rosa ◽  
Marina Corominas ◽  
...  
Keyword(s):  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Endometrial Carcinomas
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