4. Hrvatski kongres kliniËke citologije 4th Croatian Congress ... - Penta

4. Hrvatski kongres kliniËke citologije / 1. Hrvatski simpozij analitiËke citologije / 2. Hrvatski simpozij citotehnologije
ALLELE FREQUENCIES OF FIVE X-LINKED MICROSATELLITES IN THE CROATIAN
POPULATION AND THEIR APPLICATION IN PRENATAL DIAGNOSIS OF SEX
CHROMOSOME ANEUPLOIDIES
Crkvenac Gornik K1 , Štingl K2 , Grubić Z2 , Tonković Đurišević I1 , Huljev Frković S1 ,
Begović D1 1 Division of Genetics and Metabolism, Clinic of Paediatrics
2 Tissue Typing Centre, University Hospital Centre, Zagreb, Croatia
Five STR loci located on the X chromosome (DXS9895, GATA172D05, DXS6810, DXS6803
and HPRTB) were investigated in the group of 183 unrelated healthy individuals from
Croatia (90 males and 93 females). No deviation from the Hardy-Weinberg equilibrium
could be detected while allele frequencies showed similar distribution in male and female
samples. All investigated loci with the exception of DXS6810 locus have demonstrated
sufficient polymorphism to be considered valuable in prenatal diagnosis of sex
chromosome aneuploidies. The DXS6810 locus showed low polymorphism with only 6
observed alleles and polymorphism information content (PIC) value lower than 0.75. The
analysis of these five STR loci was also performed on the samples from 13 patients with
X chromosome disorders (Turner Syndrome - 6 cases; Klinefelter Syndrome - 5 cases
and Triplo X Syndrome - 2 cases). The comparison of results obtained by the analysis
of STR loci with the results from the standard cytogenetic methods did not reveal any
discrepancies. The present data therefore confirm the diagnostic value of investigated
X-STR loci for the prenatal detection of chromosome X numerical disorders.
kcrkven@kbc-zagreb.hr
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Analitička citologija - Posteri