Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7

Article Abstract:

A new autosomal dominant limb-girdle muscular dystrophy (LBMD1) locus has been identified on chromosome 7. Of five studied families, two show evidence that points to linkage to the region, further heterogeneity is established in the diagnostic classification. Flanking markers show the locus for the disease to be between D7S2423 and D7S427. Multipoint analysis slightly favors the D7S2546-D7S2423 interval of 9 cM.

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No gene is an island: The flip-flop phenomenon

Article Abstract:

Theoretical modeling is used to show that flip-flop associations can occur when the examined variant is correlated, through interactive effects or linkage disequilibrium with a casual variant at another locus. The analysis has demonstrated that flip-flop associations are partially attributable to population variation in interlocus correlation when the loci are not taken into consideration jointly.

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Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies

Article Abstract:

Data on human Mendelian disease-causing mutations, human-chimpanzee divergence and genetic variation in the modern human population were analyzed. A high fraction of mildly deleterious mutations among missense mutations suggests that mutation-selection balance could be a possible explanation for the existence of common disease with complex inheritance.

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