HOX A10 and HOX A11 mutation scan in congenital malformations of the female genital tract
Φόρτωση...
Ημερομηνία
Συγγραφείς
Liatsikos, S. A.
Grimbizis, G. F.
Georgiou, I.
Papadopoulos, N.
Lazaros, L.
Bontis, J.
Tarlatzis, B. C.
Τίτλος Εφημερίδας
Περιοδικό ISSN
Τίτλος τόμου
Εκδότης
Περίληψη
Τύπος
Είδος δημοσίευσης σε συνέδριο
Είδος περιοδικού
peer-reviewed
Είδος εκπαιδευτικού υλικού
Όνομα συνεδρίου
Όνομα περιοδικού
Reprod Biomed Online
Όνομα βιβλίου
Σειρά βιβλίου
Έκδοση βιβλίου
Συμπληρωματικός/δευτερεύων τίτλος
Περιγραφή
Homeobox (HOX) genes encode a number of transcription factors, expressed along the developmental axis of the female genital tract during the embryonic period. Because HOX A10 and HOX A11 genes are expressed in the embryonic paramesonephric (Mullerian) ducts, abnormally low expression by mutant HOX A10 and HOX A11 genes might cause genital tract anomalies. This case-control study examined if one or more mutations in the HOX A10 and HOX A11 genes are included in the pathogenesis of the female genital tract anomalies. Blood samples were obtained from 30 women diagnosed with malformations of the genital tract (18 with septate uterus, three with bicornuate uterus, two with didelphys uterus, two with unicornuate uterus and five with aplasia/dysplasia) and 100 normal controls. DNA samples prepared from blood leukocytes were used as templates for polymerase chain reaction amplification of DNA fragments from HOX A10 and HOX A11 genes. The gene fragments were tested for DNA sequence differences using single-strand conformation polymorphism analysis and sequenced when genetic variation was detected. No subject showed a plausible causative mutation in HOX A10 or HOX A11; the sole variant observed (P38R) found in a patient with septate uterus was also present in her clinically normal mother.
Περιγραφή
Λέξεις-κλειδιά
Adolescent, Adult, Case-Control Studies, Female, Genitalia, Female/*abnormalities, Homeodomain Proteins/*genetics, Humans, Polymorphism, Single-Stranded Conformational
Θεματική κατηγορία
Παραπομπή
Σύνδεσμος
http://www.ncbi.nlm.nih.gov/pubmed/20457539
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