Author/Editor     Stangler-Herodež, Špela; Zagradišnik, Boris; Kokalj-Vokač, Nadja
Title     Rapid prenatal diagnosis of chromosomal aneuploidy with multiplex ligation-dependent probe amplification (MLPA)
Translated title     Hitra prenatalna diagnostika kromosomskih anevploidij z MLPA (multiplex ligation-dependent probe amplification - hkratno pomnoževanje od ligacije odvisnih sond)
Type     članek
Source     In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Publication year     2005
Volume     str. 387-90
Language     eng
Abstract     Numerical chromosomal aberrations are usually identified by cytogenetic analysis. A variety of other methods can replace karyotyping to detect aneuploidy but all have downsides; some are time-consuming and labour-intensive, some require high quality DNA, etc. A method, MLPA (multiplex ligation-dependent amplification), has recently been described. It can be used to detect the correct number of all chromosomes in a small amount of genomic DNA. The method relies on amplification and quantification of probes added to the test sample. In this study, MLPA was compared with cytogenetic analysis of cultured foetal tissues. Genomic DNA was extracted from 24 samples from spontaneously terminated pregnancies routinely sent for cytogenetic analysis. The MLPA analysis was performed with a subtelomeric kit from MRC-Holland. Cytogenetic analysis confirmed the chromosome number established by MLPA analysis in 16 samples. Lack of cell growth precluded karyotyping in 8 samples, in which only MLPA results were obtained. MLPA analysis can be successfully used to detect the correct number of chromosomes and is therefore suitable as a diagnostic method for numeric chromosomal aberrations. It can also provide partial information on the karyotype of a tested sample when cytogenetic analysis is not possible because of a lack of viable cells or when only a small amount of template DNA is available.
Descriptors     PRENATAL DIAGNOSIS
ANEUPLOIDY
CYTOGENETICS