Paediatria Croatica, Vol. 59 No. 2, 2015.
Pregledni rad
https://doi.org/10.13112/PC.2015.18
Use of microsatellite loci in prenatal and postnatal diagnosis of aneuploidy and uniparental disomy
Kristina Crkvenac Gornik
; Klinički bolnički centar Zagreb
Ivana Tonković Đurišević
Morana Mikloš
Sanda Huljev Frković Huljev Frković
Zorana Grubić
Sažetak
The largest proportion of all chromosomal anomalies in humans are syndromes Down (trisomy of chromosome 21), Edwards (trisomy
of chromosome 18) and Patau (trisomy of chromosome 13). This fact has revealed the need to introduce methods that would
allow rapid diagnosis of the most common numerical chromosomal abnormalities, which is of special importance in prenatal diagnosis.
Analysis of the microsatellite or STR locus with the PCR-STR method has given us the possibility of fast diagnosis of the most
frequent aneuploidies within one to three days. The advantage of the analysis of STR loci in prenatal and postnatal diagnosis lies in
the ability to determine the origin of chromosomes in the diagnosis of uniparental disomy. At the Zagreb University Hospital Centre,
rapid prenatal and postnatal diagnosis of aneuploidy and uniparental disomy was performed using analysis of the microsatellite
loci of chromosomes 7, 11, 13, 14, 15, 18, 21, X and Y. The purpose of the work was to show diagnostic value of the microsatellite loci
on the above listed chromosomes. On prenatal screening of 2072 amniotic fl uid samples, 55 (2.65%) showed change in the number
of chromosomes. As expected, the largest number of samples (n=35) showed trisomy of chromosome 21. Uniparental disomy of
chromosome 15 (UPD15) was demonstrated in 13 of 54 subjects with suspicion of uniparental disomy. The results of the PCR-STR
method were in accordance with the results of conventional cytogenetics. In conclusion, the combination of STR loci that we use is
considered good enough to determine aneuploidy of chromosomes 13, 18, 21, X and Y, and uniparental disomy of chromosomes 7,
11, 14 and 15.
Ključne riječi
prenatal diagnosis; aneuploidy; uniparental disomy; chromosome aberrations
Hrčak ID:
142609
URI
Datum izdavanja:
26.6.2015.
Posjeta: 1.969 *