CHROMOSOMAL MAPPING OF THE LOCUS FOR CONGENITAL NEPHROTIC SYNDROME (CNF)

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This project aims to identify the disease locus for congenital nephrotic syndrome of the Finnish type in North Amerian families. Our first goasl is to determine whether the disease locus in these families maps to 19q, where the disease locus has been mapped in Finnish CNF families. Ultimately we intend to identify the locus and characterize the mutation in each family. In two families the disease locus has been mapped to 19q. Studies are in progress in the third family; the fourth family is in the process of having blood collected. We obtained DNA from five additional CNF families (12 subjects), for a total of 10 families. The CNF gene has been cloned and identified mutations in a number of families, including the families that participated in our study.