Genomewide linkage screen for Waldenstrom macroglobulinemia susceptibility loci in high-risk families

Article Abstract:

A systematic genetic analysis of familial Waldenstrom macroglobulinemia (WM) was conducted in 11 high-risk families to apply highly informative, densely spaced markers in a whole-genome search for linkage analysis. Results strongly suggest linkage to regions on chromosomes 1q and 4q when immunoglobulin M monoclonal gammopathy of undetermined significance (IgM MGUS) is also considered a phenotypic marker of susceptibility in these families.

Usage, Diagnosis, Genetic markers, Macroglobulinemia, Waldenstrom macroglobulinemia, Clinical report

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Optimal ascertainment strategies to detect linkage to common disease

Article Abstract:

Collecting extended pedigrees is most appropriate when the susceptibility allele is rare, and pedigrees with first or second cousins are most effective for linkage detection. The extended pedigree is not very helpful, however, for qualitative traits with common alleles in single-locus, additive or multiplicative models. In addition, the power decreases when the pedigrees include many affected individuals.

Genetic disorders, Linkage (Genetics)

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Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia

Article Abstract:

Intragenic cis and trans modification of genetic susceptibility in three DYT1 single nucleotide polymorphisms were studied. Analysis of haplotypes showed a highly protective effect of the H allele in trans with the GAG deletion and also that the D216 allele in cis was required for the disease to be penetrant.

Dystonia, Single nucleotide polymorphisms, Report

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