Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis.

Abstract

Haplotype analysis and alpha-fetoprotein quantitation comprise a prenatal diagnosis of congenital nephrosis. Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disease characterized by massive proteinuria and nephrotic syndrome from birth. Prenatal diagnosis of CNF has previously been based on the quantitation of alpha-fetoprotein (AFP) in the amniotic fluid and maternal serum, but an increased AFP is not specific for the disease. We have recently localized the CNF gene to the chromosome 19q13.1 region and observed a strong linkage disequilibrium to the genetic markers D19S610, D19S608, D19S224 and D19S220 in this chromosomal area. Four main CNF-haplotypes have been observed in Finnish kindreds. In the present study, linkage and haplotype analyses have been applied to prenatal diagnosis of six families with a history of CNF. The results diminish the risk of false positive diagnosis and abortions of healthy fetuses in families at risk.

• Authors: M Männikkö, M Kestilä, U Lenkkeri, H Alakurtti, C Holmberg, J Leisti, R Salonen, P Aula, A Mustonen, L Peltonen, K Tryggvason
• Journal: Kidney international (Kidney Int) Vol. 51 Issue 3 Pg. 868-72 (Mar 1997) ISSN: 0085-2538 [Print] United States
• PMID: 9067923 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Genetic Markers
• Atrial Natriuretic Factor

Topics

• Amniotic Fluid (chemistry)
• Atrial Natriuretic Factor (analysis, blood)
• Chromosomes, Human, Pair 19 (genetics)
• DNA Mutational Analysis (methods)
• Evaluation Studies as Topic
• Female
• Finland
• Genes, Recessive
• Genetic Markers
• Haplotypes
• Humans
• Linkage Disequilibrium
• Male
• Nephrotic Syndrome (congenital, diagnosis, genetics)
• Pedigree
• Pregnancy
• Prenatal Diagnosis (methods)
• Risk Factors