Abstract
Human trisomy 18 (Edwards syndrome) provides a model for the role that genes on chromosome 18 play in fetal development. Trisomy 18 occurs in approximately 1 in 3000 live births. Despite its compatibility with life in 5% of cases, prolonged survival is rare. Anomalies involve the urogenital, cardiac, craniofacial and central nervous systems. The abnormalities could be caused by the abnormal expresion of developmentally important genes on chromosome 18. We have investigated the quantity and localisation of the expression of a candidate gene, transthyretin (TTR), on chromosome 18 at the RNA level in intestine and liver tissues from trisomic fetuses and have compared the expression with normal age-matched fetal tissues. The mRNA level of TTR in 10 to 14-week intestine was the same in trisomy 18 and control tissues. However, overexpression was seen for both trisomy 18 liver and intestine at 20–23 weeks. TTR transports both thyroxine and retinol and is therefore important for normal fetal development.
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Loughna, S., Bennett, P. & Moore, G. Molecular analysis of the expression of transthyretin in intestine and liver from trisomy 18 fetuses. Hum Genet 95, 89–95 (1995). https://doi.org/10.1007/BF00225081
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DOI: https://doi.org/10.1007/BF00225081