Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome
Φόρτωση...
Ημερομηνία
Συγγραφείς
Patsalis, P. C.
Hadjimarcou, M. I.
Velissariou, V.
Kitsiou-Tzeli, S.
Zera, C.
Syrrou, M.
Lyberatou, E.
Tsezou, A.
Galla, A.
Skordis, N.
Τίτλος Εφημερίδας
Περιοδικό ISSN
Τίτλος τόμου
Εκδότης
Περίληψη
Τύπος
Είδος δημοσίευσης σε συνέδριο
Είδος περιοδικού
peer-reviewed
Είδος εκπαιδευτικού υλικού
Όνομα συνεδρίου
Όνομα περιοδικού
Clin Genet
Όνομα βιβλίου
Σειρά βιβλίου
Έκδοση βιβλίου
Συμπληρωματικός/δευτερεύων τίτλος
Περιγραφή
DNA and FISH (fluorescence in situ hybridization) analysis were carried out in 12 patients with stigmata of Turner syndrome to determine whether the Supernumerary Marker Chromosome (SMC) found cytogenetically in each of these patients was derived from the Y chromosome. The presence of a Y chromosome in these patients may predispose them to develop gonadoblastoma. PCR-Southern blot analysis, followed by FISH, was used to detect the presence of Y chromosome material. The Sex determining Region Y (SRY), Testis Specific Protein Y-encoded (TSPY) and Y-chromosome RNA Recognition Motif (YRRM) genes, which map at Yp11.31, Yp11.1-11.2 and Yp11.2/Yq11.21-11.23, respectively, were selected as markers, because they span the whole Y chromosome, and more importantly, they are considered to be involved in the development of gonadoblastoma. It was shown that in 12 patients, all of whom had an SMC, the SMC of 11 was derived from the Y chromosome. Furthermore, the presence of the SRY, TSPY and YRRM gene sequences was determined and FISH analysis confirmed the Y origin of the SMCs. The methodology described in this report is a rapid, reliable and sensitive approach which may be easily applied to determine the Y origin of an SMC carried in Turner syndrome. The identification of an SMC is important for the clinical management and prognostic counseling of these patients with Turner syndrome.
Περιγραφή
Λέξεις-κλειδιά
Cell Cycle Proteins, DNA Primers, DNA-Binding Proteins/genetics, Female, Genetic Markers, Humans, In Situ Hybridization, Fluorescence, Karyotyping, *Nuclear Proteins, RNA-Binding Proteins/genetics, Sequence Analysis, DNA, Sex-Determining Region Y Protein, *Transcription Factors, Turner Syndrome/*genetics, Y Chromosome
Θεματική κατηγορία
Παραπομπή
Σύνδεσμος
http://www.ncbi.nlm.nih.gov/pubmed/9137884
http://onlinelibrary.wiley.com/store/10.1111/j.1399-0004.1997.tb02450.x/asset/j.1399-0004.1997.tb02450.x.pdf?v=1&t=h0disu8y&s=d4787bbb736e757533536a8050116e16801f3fd9
http://onlinelibrary.wiley.com/store/10.1111/j.1399-0004.1997.tb02450.x/asset/j.1399-0004.1997.tb02450.x.pdf?v=1&t=h0disu8y&s=d4787bbb736e757533536a8050116e16801f3fd9
Γλώσσα
en
Εκδίδον τμήμα/τομέας
Όνομα επιβλέποντος
Εξεταστική επιτροπή
Γενική Περιγραφή / Σχόλια
Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος
Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής