Association of PAX3 and TMTC2 gene polymorphism with the face morphology change after excision of skin tumors
Background/Aim. The group of genes, known as PAX (paired box), has a great role in organogenesis, as well as in maintaining the normal function of certain cells after the birth. In addition to these genes, the impact on the organogenesis, at the cellular level, has a transmembrane tetratricopeptid g...
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Military Health Department, Ministry of Defance, Serbia
2020-01-01
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doaj-de1732af5081428ca54ceacb4dabda6f2020-11-25T03:16:42ZengMilitary Health Department, Ministry of Defance, SerbiaVojnosanitetski Pregled0042-84502406-07202020-01-0177663163610.2298/VSP180613128M0042-84501800128MAssociation of PAX3 and TMTC2 gene polymorphism with the face morphology change after excision of skin tumorsMilićević Saša0Magić Zvonko1Šupić Gordana2Jevtić Aleksandar3Jovandić Stevo4Stepić Nenad5Military Medical Academy, Clinic for Plastic Surgery and Burns, Belgrade, SerbiaInstitute of Medical Research, Belgrade, Serbia + University of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade, SerbiaInstitute of Medical Research, Belgrade, Serbia + University of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade, SerbiaClinic for Orthopedics and Traumatology, Belgrade, SerbiaInstitute of Medical Research, Belgrade, SerbiaMilitary Medical Academy, Clinic for Plastic Surgery and Burns, Belgrade, Serbia + Institute of Medical Research, Belgrade, SerbiaBackground/Aim. The group of genes, known as PAX (paired box), has a great role in organogenesis, as well as in maintaining the normal function of certain cells after the birth. In addition to these genes, the impact on the organogenesis, at the cellular level, has a transmembrane tetratricopeptid group of genes (TMTC). The term polymorphism in the human genome implies variations in the hereditary basis that occur in human populations, the presence of two or more different alleles of one genome in the population. The aim of the work was to determine whether there is an association of PAX3 and TMTC2 genes polymorphism with changes of the face morphology after skin tumor excision and direct suture closure. Methods. The study included 130 patients of both sexes, older than 50 years, with the medical indication for the elliptical surgical excision of the skin tumor. DNA was isolated from 5 mL of peripheral blood. Gene polymorphisms were analyzed with pre-designed single nucleotide polymorphisms (SNP) assays, by allelic discrimination method on REAL-TIME apparatus. The patients were subjected to a laser scanning preoperatively, and 7 and 90 days postoperatively, in order to obtain x, y and z coordinates of 5 cephalometric points on the face, which determined the shape of the medial cheek region. The shape of the medial cheek region, as well as the coordinates of 5 cepahlometric points, were compared among genotypes of both genes preoperatively, as well as 7 days and 90 days postoperatively. Results. A statistically significant difference in the shape of the medial cheek region between wildtype and mutant of PAX3 gene was found preoperatively, while the statistically significant difference in the shape of the medial cheek region was not found between wild-type and heterozygote, nor between wild-type and heterozygote and mutant of PAX3 gene, nor among genotypes of TMTC2 gene. Seven days and 90 days postoperatively, there were no statistically significant differences in the shape of the examined region among genotypes of both genes. Conclusion. Polymorphisms of PAX3 and TMTC2 genes are not associated with the change in the face morphology after the skin tumor excision and direct suture closure of the defect.http://www.doiserbia.nb.rs/img/doi/0042-8450/2020/0042-84501800128M.pdfpolymorphism, geneticfaceskin neoplasmssurgical procedures, operative |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Milićević Saša Magić Zvonko Šupić Gordana Jevtić Aleksandar Jovandić Stevo Stepić Nenad |
spellingShingle |
Milićević Saša Magić Zvonko Šupić Gordana Jevtić Aleksandar Jovandić Stevo Stepić Nenad Association of PAX3 and TMTC2 gene polymorphism with the face morphology change after excision of skin tumors Vojnosanitetski Pregled polymorphism, genetic face skin neoplasms surgical procedures, operative |
author_facet |
Milićević Saša Magić Zvonko Šupić Gordana Jevtić Aleksandar Jovandić Stevo Stepić Nenad |
author_sort |
Milićević Saša |
title |
Association of PAX3 and TMTC2 gene polymorphism with the face morphology change after excision of skin tumors |
title_short |
Association of PAX3 and TMTC2 gene polymorphism with the face morphology change after excision of skin tumors |
title_full |
Association of PAX3 and TMTC2 gene polymorphism with the face morphology change after excision of skin tumors |
title_fullStr |
Association of PAX3 and TMTC2 gene polymorphism with the face morphology change after excision of skin tumors |
title_full_unstemmed |
Association of PAX3 and TMTC2 gene polymorphism with the face morphology change after excision of skin tumors |
title_sort |
association of pax3 and tmtc2 gene polymorphism with the face morphology change after excision of skin tumors |
publisher |
Military Health Department, Ministry of Defance, Serbia |
series |
Vojnosanitetski Pregled |
issn |
0042-8450 2406-0720 |
publishDate |
2020-01-01 |
description |
Background/Aim. The group of genes, known as PAX (paired box), has a great role in organogenesis, as well as in maintaining the normal function of certain cells after the birth. In addition to these genes, the impact on the organogenesis, at the cellular level, has a transmembrane tetratricopeptid group of genes (TMTC). The term polymorphism in the human genome implies variations in the hereditary basis that occur in human populations, the presence of two or more different alleles of one genome in the population. The aim of the work was to determine whether there is an association of PAX3 and TMTC2 genes polymorphism with changes of the face morphology after skin tumor excision and direct suture closure. Methods. The study included 130 patients of both sexes, older than 50 years, with the medical indication for the elliptical surgical excision of the skin tumor. DNA was isolated from 5 mL of peripheral blood. Gene polymorphisms were analyzed with pre-designed single nucleotide polymorphisms (SNP) assays, by allelic discrimination method on REAL-TIME apparatus. The patients were subjected to a laser scanning preoperatively, and 7 and 90 days postoperatively, in order to obtain x, y and z coordinates of 5 cephalometric points on the face, which determined the shape of the medial cheek region. The shape of the medial cheek region, as well as the coordinates of 5 cepahlometric points, were compared among genotypes of both genes preoperatively, as well as 7 days and 90 days postoperatively. Results. A statistically significant difference in the shape of the medial cheek region between wildtype and mutant of PAX3 gene was found preoperatively, while the statistically significant difference in the shape of the medial cheek region was not found between wild-type and heterozygote, nor between wild-type and heterozygote and mutant of PAX3 gene, nor among genotypes of TMTC2 gene. Seven days and 90 days postoperatively, there were no statistically significant differences in the shape of the examined region among genotypes of both genes. Conclusion. Polymorphisms of PAX3 and TMTC2 genes are not associated with the change in the face morphology after the skin tumor excision and direct suture closure of the defect. |
topic |
polymorphism, genetic face skin neoplasms surgical procedures, operative |
url |
http://www.doiserbia.nb.rs/img/doi/0042-8450/2020/0042-84501800128M.pdf |
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