Use of routinely collected amniotic fluid for whole-genome expression analysis of polygenic disorders

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Background: Neural tube defects related to polygenic disorders are the second most common birth defects in the world, but no molecular biologic tests are available to analyze the genes involved in the pathomechanism of these disorders. We explored the use of routinely collected amniotic fluid to characterize the differential gene expression profiles of polygenic disorders. Methods: We used oligonucleotide microarrays to analyze amniotic fluid samples obtained from pregnant women carrying fetuses with neural tube defects diagnosed during ultrasound examination. The control samples were obtained from pregnant women who underwent routine genetic amniocentesis because of advanced maternal age (>35 years). We also investigated specific folate-related genes because maternal periconceptional folic acid supplementation has been found to have a protective effect with respect to neural tube defects. Results: Fetal mRNA from amniocytes was successfully isolated, amplified, labeled, and hybridized to whole-genome transcript arrays. We detected differential gene expression profiles between cases and controls. High-lighted genes such as SLA, LST1, and BENE might be important in the development of neural tube defects. None of the specific folate-related genes were in the top 100 associated transcripts. Conclusions: This pilot study demonstrated that a routinely collected amount of amniotic fluid (as small as 6 mL) can provide sufficient RNA to successfully hybridize to expression arrays. Analysis of the differences in fetal gene expressions might help us decipher the complex genetic background of polygenic disorders.

Original languageEnglish
Pages (from-to)2013-2020
Number of pages8
JournalClinical Chemistry
Volume52
Issue number11
DOIs
Publication statusPublished - Nov 2006

Fingerprint

Neural Tube Defects
Amniotic Fluid
Genes
Folic Acid
Genome
Defects
Fluids
Gene expression
Transcriptome
Pregnant Women
Amniocentesis
Maternal Age
Microarray Analysis
Oligonucleotide Array Sequence Analysis
Microarrays
Fetus
Oligonucleotides
Mothers
RNA
Gene Expression

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

Use of routinely collected amniotic fluid for whole-genome expression analysis of polygenic disorders. / Nagy, Gyula Richárd; Györffy, B.; Galamb, O.; Molnár, B.; Nagy, B.; Papp, Z.

In: Clinical Chemistry, Vol. 52, No. 11, 11.2006, p. 2013-2020.

Research output: Contribution to journalArticle

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