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.

Canada, Netherlands, Caribbean Region, Surinam, Usage, Physiological aspects, Genetic aspects, Creatine kinase, Chromosome mapping, Genetic disorders, Suriname, Muscular dystrophy, Speech disorders

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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.

Science & research, Gene mutations, Gene mutation, Allelomorphism, Alleles, Genetic variation

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