Use of microsatellite loci in prenatal and postnatal diagnosis of aneuploidy and uniparental disomy

Autor: Ivana Tonković Đurišević, Kristina Crkvenac Gornik, Morana Mikloš, Zorana Grubić, Sanda Huljev Frković
Rok vydání: 2015
Předmět:
Zdroj: Paediatria Croatica
Volume 59
Issue 2
ISSN: 1330-1403
1846-405X
DOI: 10.13112/pc.2015.18
Popis: Najveći udio svih kromosomopatija u čovjeka čine Downov (trisomija kromosoma 21), Edwardsov (trisomija kromosoma 18) i Patauov (trisomija kromosoma 13) sindrom. Navedena činjenica uputila je na potrebu uvođenja metoda koje bi omogućile brzu dijagnostiku najčešćih numeričkih kromosomskih poremećaja, što je od osobite važnosti u prenatalnoj dijagnostici. Analiza mikrosatelitskih lokusa ili lokusa STR primjenom metode PCR-STR omogućila je brzu dijagnostiku najčešćih aneuploidija u vremenskom razdoblju od jednog do tri dana. Prednost analize lokusa STR u prenatalnoj i postnatalnoj dijagnostici očituje se i u mogućnosti utvrđivanja podrijetla kromosoma u dijagnostici uniparentne disomije. U KBC-u Zagreb brza prenatalna i postnatalna dijagnostika aneuploidija i uniparentne disomije provedena je primjenom analize mikrosatelitskih lokusa kromosoma 7, 11, 13, 14, 15, 18, 21, X i Y. Cilj rada je prikazati dijagnostičku vrijednost primijenjenih mikrosatelitskih lokusa na navedenim kromosomima. Prenatalnim pretraživanjem 2072 uzorka plodovih voda kod njih 55 (2,65%) otkrivena je promjena u broju kromosoma. Očekivano, u najvećem broju uzoraka (n=35) otkrivena je trisomija kromosoma 21. U uzorku od 54-ero ispitanika sa sumnjom na uniparentnu disomiju kod njih 13-ero nađena je uniparentna disomija kromosoma 15 (UPD15). Rezultati metode PCR-STR bili su u skladu s rezultatima metode klasične citogenetike. Zaključno možemo reći da je kombinacija mikrosatelitskih lokusa koju primjenjujemo dostatno informativna za uspješno određivanje aneuploidije kromosoma 13, 18, 21, X i Y i uniparentne disomije kromosoma 7,11,14 i 15.
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.
Databáze: OpenAIRE
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