title: Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities.
abstract: OBJECTIVE
  To determine the value of short-tandem repeat markers on the chromosome X (X-STR) for prenatal diagnostics of the chromosome X numerical disorders.
  
  
  METHODS
  We investigated the genetic variability of 5 X-markers (DXS9895, DXS6810, DXS6803, GATA172D05, and HPRTB) in 183 healthy Croatian individuals (90 men and 93 women). We also tested 13 patients with X chromosome disorders (Turner syndrome--6 cases; Klinefelter syndrome--5 cases, and Triple X syndrome--2 cases). The analysis was performed using polymerase chain reaction amplification with specific primers and electrophoresis on a polyacrylamide gel. The study was performed in 2010.
  
  
  RESULTS
  Our sample showed no significant differences in allelic frequencies of the investigated X-markers from other European populations. A set of 5 X-STR markers was sufficiently informative for a successful determination of the chromosome X numerical abnormalities.
  
  
  CONCLUSIONS
  Since no false positive or negative results were observed, diagnostic value of the investigated X-STR loci for prenatal detection of chromosome X numerical disorders was confirmed. Our study represents an important step toward an improved prenatal diagnostics in Croatia.
authors.affiliation: Division of Genetics, Department of Pediatrics, University Hospital Center, Zagreb, Croatia. kcrkven@kbc-zagreb.hr
authors.forename: Kristina
authors.initials: K
authors.lastname: Crkvenac Gornik
authors.forename: Zorana
authors.initials: Z
authors.lastname: Grubić
authors.forename: Katarina
authors.initials: K
authors.lastname: Stingl
authors.forename: Ivana
authors.initials: I
authors.lastname: Tonković Durisević
authors.forename: Davor
authors.initials: D
authors.lastname: Begović
mesh_terms: D001483:Base Sequence / Q000235:genetics; D016009:Chi-Square Distribution; D017523:Croatia; D005260:Female; D005784:Gene Amplification; D050172:Genes, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011237:Predictive Value of Tests; D011296:Prenatal Diagnosis; D025064:Sex Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D013997:Time Factors