Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity
Article Abstract:
A 3-generation family with infantile hypertrophic pyloric stenosis (IHPS) is analyzed and a single-nucleotide polymorphism-based genomewide scan is sued t o map the underlying disease locus to chromosome 16p12-p13. The analysis has yielded negative or nonsignificant LOD scores, indicating the presence of locus heterogeneity, and the sequence analysis of candidate genes from the chromosome 16 disease intervals has excluded the presence of pathogenic mutations in the GRIN2A and MYH11 genes.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p
Article Abstract:
A novel genodermatosis, known as familial chilblain lupus, which is a monogenic form of cutaneous lupus erythematosus, is described. The locus is mapped to chromosome 3p by single-nucleotide-polymorphism-based genomewide linkage analysis, thus also enabling the pathogenesis of common forms of connective-tissue disease such as systemic lupus erythematosis, a prototypic autoimmune disease.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23
Article Abstract:
The results obtained from the genome--wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis (IHPS) are presented. The IHPS molecule is found to exhibit two loci on chromosomes 11q14-q22 and Xq23, which are extremely beneficial in the smooth control of human muscles.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
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