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PO-0097 The Molecular Genetic Studies For Determination Of Latent Mosaicism And Parental Origin Of X Chromosome In Girls With Turner Syndrome In Uzbekistan
  1. MD Mirkhaydarova,
  2. NSH Ibraghimova,
  3. RS Mukhamedov
  1. Laboratory of Genomics, Institute of Bioorganic Chemistry Academy of Sciences Republic of Uzbekistan, Tashkent, Uzbekistan


Goal Identification of latent mosaicism and determination of a parental origin of an X chromosome in TS patients in Uzbekistan.

Methods Molecular genetic studies are carried out in 35 patients with TS (26 with monosomy, 9 with mosaicism) at the age of 7 to 16 and their parents.

Results Three X-linked markers (DMD 49, AR and DX1283E) were studied on the basis of their high level of heterozygosis, a number of alleles (11 to 19) and localization both on a short and long X chromosome arm. The results obtained confirm that the use of a set of these primers (DMD 49, AR and DX1283E) will allow enhancing a probability of obtaining an informative marker and detection of latent X-mosaicism. Monozygosity on all 3 markers indicates the presence of only one X chromosome that in female patients will correspond to true monosomy. Heterozygosis of one marker suggests on the presence of an additional second X chromosome or a part of an X chromosome which is observed both in 46XX karyotype (healthy) and in mosaic variants of chromosomal anomalies (45X0–46XX, 45X0–46?Y).

Conclusions A comparative analysis of polymorphic markers in TS patients and their parents enable us to establish the origin of an X chromosome and determine in gametogenesis of which parents meiotic impairment occurred. Identification of mosaicism in Turner syndrome is very important from the viewpoint of setting correlations between a phenotype and karyotype.

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