Männikkö M, Kestilä M, Lenkkeri U, Alakurtti H, Holmberg C, Leisti J, Salonen R, Aula P, Mustonen A, Peltonen L, Tryggvason K
Biocenter Oulu, University of Oulu, Finland.
Kidney Int. 1997 Mar;51(3):868-72. doi: 10.1038/ki.1997.122.
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.
单倍型分析和甲胎蛋白定量构成先天性肾病的产前诊断。芬兰型先天性肾病综合征（CNF）是一种常染色体隐性疾病，其特征为自出生起即出现大量蛋白尿和肾病综合征。此前，CNF的产前诊断基于羊水和母体血清中甲胎蛋白（AFP）的定量，但AFP升高并非该疾病所特有。我们最近已将CNF基因定位到19号染色体q13.1区域，并观察到该染色体区域与遗传标记D19S610、D19S608、D19S224和D19S220存在强烈的连锁不平衡。在芬兰家族中已观察到四种主要的CNF单倍型。在本研究中，连锁和单倍型分析已应用于六个有CNF病史家庭的产前诊断。结果降低了高危家庭中假阳性诊断和健康胎儿流产的风险。
