Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta
Dentinogenesis imperfecta Type II (DGI-II) is a condition inherited as an autosomal dominant trait and characterized by abnormal dentine structure affecting both the primary and secondary dentitions. The genetic etiology of the disease still remains unclear, suggesting a genetically heterogeneous ba...
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| Дата: | 2013 |
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| Автори: | , , , , |
| Формат: | Стаття |
| Мова: | English |
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Інститут клітинної біології та генетичної інженерії НАН України
2013
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| Назва видання: | Цитология и генетика |
| Онлайн доступ: | http://dspace.nbuv.gov.ua/handle/123456789/126592 |
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| Назва журналу: | Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| Цитувати: | Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta / K. Ulucan, S. Akyüz, G. Özbay, F.N. Pekiner, A. İlter Güney // Цитология и генетика. — 2013. — Т. 47, № 5. — С. 28-32. — Бібліогр.: 25 назв. — англ. |
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irk-123456789-1265922017-11-28T03:02:40Z Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta Ulucan, K. Akyüz, S. Özbay, G. Pekiner, F.N. A. İlter Güney Dentinogenesis imperfecta Type II (DGI-II) is a condition inherited as an autosomal dominant trait and characterized by abnormal dentine structure affecting both the primary and secondary dentitions. The genetic etiology of the disease still remains unclear, suggesting a genetically heterogeneous background. The aim of this study is to manifest briefly DGI-II and to investigate the association between BsmI, TaqI and FokI polymorphisms of Vitamin D receptor (VDR) gene and dentinogenesis imperfecta type II in a Turkish family by PCR-RFLP methodology. The affected mother and her two affected daughters were bb for BsmI polymorphism, whereas her unaffected son and her husband were Bb for the same polymorphism. One of the affected children was tt, the rest of the family were Tt for TaqI polymorphism, and all of the enrolled subjects were FF for FokI polymorphism. As a conclusion, BsmI polymorphism bb seems to be associated with (DGI-II), but should be examined in larger numbers in order to be considered as a risk factor. Неполный дентиногенез II типа (DGI-II) – состояние, которое наследуется как аутосомный доми-нантный признак и характеризуется как аномальная структура дентина, которая затрагивает первичный и вторичный рост зубов. Генетическая этиология заболевания все еще остается неизученной, но предполагается, что имеет генетически гетерогенную основу. Целью работы было с помощью PCR-RFLP оценить DGI-II и изучить связь между полиморфизмом BsmI, TaqI и FokI гена VDR и неполным дентиногенезом II типа в одной из турецких семей. Затронутые болезнью мать и две дочери были рецессивными гомозиготами bb в отношении полиморфизма BsmI, в то время как здоровый сын и муж были гетерозиготами Bb. По TaqI полиморфизму одна из больных дочерей была tt, а остальные члены семьи – Tt. Все перечисленные члены семьи были FF по полиморфизму FokI. Очевидно, полиморфизм bb BsmI связан с DGI-II, однако необходимо исследование большей выборки, чтобы считать его фактором риска. 2013 Article Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta / K. Ulucan, S. Akyüz, G. Özbay, F.N. Pekiner, A. İlter Güney // Цитология и генетика. — 2013. — Т. 47, № 5. — С. 28-32. — Бібліогр.: 25 назв. — англ. 0564-3783 DOI: 10.3103/S0095452713050101 http://dspace.nbuv.gov.ua/handle/123456789/126592 en Цитология и генетика Інститут клітинної біології та генетичної інженерії НАН України |
| institution |
Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| collection |
DSpace DC |
| language |
English |
| description |
Dentinogenesis imperfecta Type II (DGI-II) is a condition inherited as an autosomal dominant trait and characterized by abnormal dentine structure affecting both the primary and secondary dentitions. The genetic etiology of the disease still remains unclear, suggesting a genetically heterogeneous background. The aim of this study is to manifest briefly DGI-II and to investigate the association between BsmI, TaqI and FokI polymorphisms of Vitamin D receptor (VDR) gene and dentinogenesis imperfecta type II in a Turkish family by PCR-RFLP methodology. The affected mother and her two affected daughters were bb for BsmI polymorphism, whereas her unaffected son and her husband were Bb for the same polymorphism. One of the affected children was tt, the rest of the family were Tt for TaqI polymorphism, and all of the enrolled subjects were FF for FokI polymorphism. As a conclusion, BsmI polymorphism bb seems to be associated with (DGI-II), but should be examined in larger numbers in order to be considered as a risk factor. |
| format |
Article |
| author |
Ulucan, K. Akyüz, S. Özbay, G. Pekiner, F.N. A. İlter Güney |
| spellingShingle |
Ulucan, K. Akyüz, S. Özbay, G. Pekiner, F.N. A. İlter Güney Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta Цитология и генетика |
| author_facet |
Ulucan, K. Akyüz, S. Özbay, G. Pekiner, F.N. A. İlter Güney |
| author_sort |
Ulucan, K. |
| title |
Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta |
| title_short |
Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta |
| title_full |
Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta |
| title_fullStr |
Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta |
| title_full_unstemmed |
Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta |
| title_sort |
evaluation of vitamin d receptor (vdr) gene polymorphisms (foki, taqi and apai) in a family with dentinogenesis imperfecta |
| publisher |
Інститут клітинної біології та генетичної інженерії НАН України |
| publishDate |
2013 |
| url |
http://dspace.nbuv.gov.ua/handle/123456789/126592 |
| citation_txt |
Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta / K. Ulucan, S. Akyüz, G. Özbay, F.N. Pekiner, A. İlter Güney // Цитология и генетика. — 2013. — Т. 47, № 5. — С. 28-32. — Бібліогр.: 25 назв. — англ. |
| series |
Цитология и генетика |
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