RETROSPECTIVE ANALYSIS OF ALPHA GLOBIN COPY NUMBER VARIATIONS DETERMINED BY MLPA IN THE TRAKYA REGION
Küçük Resim Yok
Tarih
2021
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Istanbul Univ, Fac Medicine, Publ Off
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Objective: Alpha thalassemia is a common type of hemoglobinopathy that occurs as a result of deletions or point mutations in the alpha globin gene cluster. The molecular analysis of alpha thalassemia is challenging due to the presence of genes with high sequence similarities in alpha globin gene clusters and pseudogenes. As well as in all genetic diseases, determining the causative mutation types of alpha thalassemia and their frequencies have critical importance for accurate genetic screening and prevention strategies. Material and Method: In our study, alpha globin copy number variations determined by the Multiplex Ligation-dependent Probe Amplifcation (MLPA) method were examined retrospectively with suspicion of alpha thalassemia in 35 female and 43 male patients tested in the Genetic Diseases Diagnosis Center of the Medical Genetics Department at Trakya University Faculty of Medicine. Results: The most common deletion among our patients was the -alpha(3.7) (35.3%), followed by the -alpha(20.5) (10.3%) deletion. The -dm deletion was detected in three patients while 4 out of 78 cases were found to have the -alpha(MED) deletion. In three patients, a heterozygous large deletion and in one case HS40 regulatory region deletion were detected. In 14 (18%) of the patients, alpha globin triplications were detected. The -alpha(4.2) deletion was detected in only one of our patients. Conclusion: Our study is the first to report the presence of eight different alpha globin copy number changes and 13 different alpha globin genotypes in the Trakya region.
Açıklama
Anahtar Kelimeler
Alpha Thalassemia, Globin, Copy Number Variation, Dependent Probe Amplification, Gene Triplication, Thalassemia Mutations, Beta-Thalassemia, 1st Observation, Turkey, Frequency, Spectrum, Disease
Kaynak
Journal Of Istanbul Faculty Of Medicine-Istanbul Tip Fakultesi Dergisi
WoS Q Değeri
N/A
Scopus Q Değeri
Q4
Cilt
84
Sayı
3
