Fine mapping of the diabetes-susceptibility locus, IDDM4 (ital), on chromosome 11q13

Article Abstract:

Results of genomewide linkage studies of type 1 diabetes or insulin-dependent diabetes mellitus (IDDM) indicate that in mapping of genes for common multifactorial diseases, analysis of both affected and unaffected siblings is valuable. Both predisposing and nonpredisposing alleles should be anticipated. The studies show that several unlinked susceptibility loci can explain clustering of the disease in families. One locus maps to chromosome 11p13. After 707 affected sib pairs were analyzed a peak multipoint maximum LOD score was found to be 2.7 with linkage over a 15-cM region. To fine map the locus for structural analysis of positional candidate genes was a challenge. Analysis of another 1,702 families have support for negative transmission of D11S1917 (ital) allele 3 to affected offspring and transmission to unaffected siblings.

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Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36

Article Abstract:

A new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine has been identified on chromosome 1p35-36. A genomewide search has been carried out in a large consanguineous family having 11 siblings and three children affected by CMD without merosin deficiency. The affected children are homozygous for several markers on the chromosome. Two other consanguineous families with affected children showed linkage to the same locus and in the three families early rigidity of the spine, reduced vital capacity and scoliosis were found.

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A novel Alu (ital)-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy

Article Abstract:

A genome sequence with features typical of Alu(ital)-like mobile elements rearranged into the dystrophin gene in a family affected by X-linked dilated cardiomyopathy has been characterized and identified. Complexity of the pathogenic mechanism that leads to X-linked dilated cardiomyopathy has been reconfirmed by the research focusing on an Italian family of Sardinian descent. It seems there are differences in tissue-specific expression of dystrophin mutations that may be a common factor in the condition.

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