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

本项目旨在确定先天性肾病的发病部位， 北美家庭中的芬兰型综合征。 第一个目标 是确定这些家族中的疾病基因座是否映射到19 q， 在芬兰CNF家族中已定位了疾病位点。 最终，我们打算确定基因座并描述突变 在每个家庭。 在两个家庭中，疾病位点已被定位到19 q。 第三个家庭的研究正在进行中;第四个家庭在第三个家庭。 收集血液的过程。 我们从另外五个 CNF家系（12例受试者），共10个家系。 CNF基因具有 在许多家族中克隆并鉴定了突变，包括 参与我们研究的家庭。

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.