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Mutlu P, Ural AU, Gündüz U. Hücre Döngüsü ve Apoptoz ile İlgili Gen İfadelerinin Kortikosteroid, Vinkristin ve Melfalan Dirençli U-266 Multipl Myelom Hücre Hatlarında Analizi. Different types of cell cycle- and apoptosis-related gene expressions alter in corticosteroid-, vincristine-, and melphalan-resistant u-266 multiple myeloma cell lines. Turk J Haematol. 2014;31(3):231-8doi: 10.4274/tjh.2013.0231.
Mutlu, P., Ural, A. U., & Gündüz, U. (2014). Hücre Döngüsü ve Apoptoz ile İlgili Gen İfadelerinin Kortikosteroid, Vinkristin ve Melfalan Dirençli U-266 Multipl Myelom Hücre Hatlarında Analizi. Different types of cell cycle- and apoptosis-related gene expressions alter in corticosteroid-, vincristine-, and melphalan-resistant u-266 multiple myeloma cell lines. Turkish journal of haematology : official journal of Turkish Society of Haematology, 31(3), 231-8. https://doi.org/10.4274/tjh.2013.0231
Mutlu, Pelin, et al. "Hücre Döngüsü ve Apoptoz ile İlgili Gen İfadelerinin Kortikosteroid, Vinkristin ve Melfalan Dirençli U-266 Multipl Myelom Hücre Hatlarında Analizi." Different types of cell cycle- and apoptosis-related gene expressions alter in corticosteroid-, vincristine-, and melphalan-resistant u-266 multiple myeloma cell lines. Turkish journal of haematology : official journal of Turkish Society of Haematology vol. 31,3 (2014): 231-8. doi: https://doi.org/10.4274/tjh.2013.0231
Mutlu P, Ural AU, Gündüz U. Hücre Döngüsü ve Apoptoz ile İlgili Gen İfadelerinin Kortikosteroid, Vinkristin ve Melfalan Dirençli U-266 Multipl Myelom Hücre Hatlarında Analizi. Different types of cell cycle- and apoptosis-related gene expressions alter in corticosteroid-, vincristine-, and melphalan-resistant u-266 multiple myeloma cell lines. Turk J Haematol. 2014 Sep 05;31(3):231-8. doi: 10.4274/tjh.2013.0231. PMID: 25330516; PMCID: PMC4287023.
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Turk J Haematol. 2014 Sep 05;31(3):231-8. doi: 10.4274/tjh.2013.0231.

Different types of cell cycle- and apoptosis-related gene expressions alter in corticosteroid-, vincristine-, and melphalan-resistant u-266 multiple myeloma cell lines.

Turkish journal of haematology : official journal of Turkish Society of Haematology

Pelin Mutlu, Ali Uğur Ural, Ufuk Gündüz

Affiliations

  1. Middle East Technical University, Department of Biological Sciences, Ankara, Turkey. E-ma-il: [email protected].

PMID: 25330516 PMCID: PMC4287023 DOI: 10.4274/tjh.2013.0231

Abstract

OBJECTIVE: Hemophilia B is caused by coagulation defects in the factor IX gene located in Xq27.1 on the X chromosome. A wide range of mutations, showing extensive molecular heterogeneity, have been described in hemophilia B patients. Our study was aimed at genetic analysis and prenatal diagnosis of hemophilia B in order to further elucidate the pathogenesis of the hemophilia B pedigree in China.

MATERIALS AND METHODS: Polymerase chain reaction amplification and direct sequencing of all the coding regions was conducted in hemophilia B patients and carriers. Prenatal diagnosis of the proband was conducted at 20 weeks.

RESULTS: We identified the novel point mutation 10.389 A>G, located upstream of the intron 3 acceptor site in hemophilia B patients. The fetus of the proband's cousin was identified as a carrier.

CONCLUSION: Our identification of a novel mutation in the F9 gene associated with hemophilia B provides novel insight into the pathogenesis of this genetically inherited disorder and also represents the basis of prenatal diagnosis.

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