Sequence diversity in 36 candidate genes for cardiovascular disorders

Article Abstract:

A molecular screening of the coding and/or flanking regions of 36 candidate genes for cardiovascular diseases has been carried out and strategies for identification of genes involved in complex diseases have been considered. Polymorphisms found were genotyped further in 750 subjects of European descent. Use of genomewide maps of single-nucleotide polymorphisms (SNPs) might be efficient as a way to identify new disease-susceptibility genes, assuming that the maps are dense enough, based on the strength of linkage disequilibrium seen in the candidate regions. It may be, given the relatively large number of polymorphisms in coding and regulatory regions of candidate genes, that several of the polymorphisms might be functional. The pattern of genotype-phenotype association might be more complex than has been thought. Complimentary approaches are likely needed.

Ireland, Usage, Cardiovascular diseases, Chromosome mapping, Genetic polymorphisms

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Structure of the gene for congenital nephrotic syndrome of the Finnish Type (NPHS1) and characterization of mutations

Article Abstract:

Congenital nephrotic syndrome of the Finnish Type (NPHS1) is autosomal recessive and brought on by mutations in the nephrin gene, NPHS1 (ital). Many cases have been seen outside Finland. The genomic structure of the gene has been analyzed and 35 patients screened for the mutations in the gene. Thirty-two novel mutations including deletions were found. Two Swedish and four Finnish patients had the typical Finnish mutations and in seven cases no mutations were found in the coding region of the NPHS1 (ital) gene or in the regions very closeby, the immediate 5'-flanking region. The patients may have mutation someplace else in the promoter or in intron areas or in a gene encoding another protein that interacts with nephrin.

United States, Finland, Sweden, Nephrotic syndrome

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