Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep674 | Pituitary: basic and neuroendocrinology | ECE2015

Results of molecular genetic studies for determination of latent mosaicism and parental origin of X chromosome in girls with Turner syndrome in Uzbek population

Mukhamedov Ravshan , Ibragimova Nilufar , Mirkhaidarova Malika

Goal: Identification of latent mosaicism and determination of a parental origin of an X chromosome in TS patients in Uzbek population.Methods: Molecular genetic studies are carried out in 35 patients with TS (26 with monosomy and nine with mosaicism) at the age of 7–16 and their parents with a set of DIATOMTMDNA prep 200 reagents. DNA amplification was performed in Applied Biosystems thermocyclers. PCR products were subjected to electrophoresis on 1...