Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy.
J Hum Genet
; 65(10): 889-894, 2020 Oct.
Article
em En
| MEDLINE
| ID: mdl-32483273
ABSTRACT
Triploidy is a genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric) or maternal (digynic) origin. Diandric cases, opposite to digynic ones, may lead to gestational trophoblastic neoplasia (GTN) or generate maternal complications, therefore their identification is crucial, but reproducibility of traditionally used histopathological assessment is poor. The aim of the study was to analyse the usefulness of methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) with probes for two differentially methylated regions (DMR) at chromosome 11p.15.5 for identification of the parental origin of triploidy. 84 triploid DNA samples were tested with MS-MLPA 34 paternal cases (40.5%) and 50 maternal ones (59.5%) according to the reference results of QF-PCR. Methylation ratio (MR) was calculated. Reference values proposed by the MRC-Holland for diploid samples (MR 0.8-1.2) were used. The values outside these ranges were used to diagnose parental origin of triploidy-paternal (MR > 1.2) or maternal (MR < 0.8). The effectiveness of MS-MLPA was 94.0%. The mean MR in paternal triploidy was 1.7 (SD-0.25; n = 34) compared with 0.56 in maternal triploidy (SD-0.12; n = 50). MR values in paternal and maternal triploidy did not overlap. In five samples (6.0%) parental origin of triploidy could not be accurately established by MS-MLPA, probably due to the maternal cell contamination (MCC). MS-MLPA can be used as a convenient method for distinguishing between paternal and maternal triploidy without the necessity for parental samples testing. It enables adequate selection of the paternal triploid cases for follow up in order to exclude post-molar GTN.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trissomia
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Cariótipo XYY
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Cromossomos Humanos Par 11
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Impressão Genômica
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Metilação de DNA
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Transtornos dos Cromossomos Sexuais
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Transtornos do Cromossomo Sexual no Desenvolvimento Sexual
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Triploidia
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Reação em Cadeia da Polimerase Multiplex
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Síndrome de Klinefelter
Tipo de estudo:
Diagnostic_studies
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Evaluation_studies
Limite:
Female
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Humans
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Male
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Pregnancy
Idioma:
En
Revista:
J Hum Genet
Ano de publicação:
2020
Tipo de documento:
Article