Assignment of the tibial muscular dystrophy locus to chromosome 2q31
Article Abstract:
Tibial muscular dystrophy (TMD) has been studied by carrying out a genomewide scan with 279 very polymorphic Cooperative Human Linkage Center microsatellite markers on 11 affected people in a Finnish family. In linkage analyses carried out with three other Finnish TMD families using a denser set of markers a maximum two-point LOD score of 10.14 (recombination fraction of .05) was found with marker D2364. The TMD locus was limited to an about 1pcM critical chromosomal region with no evidence of heterogeneity. The evidence for linkage was found from markers in a 43-cM region on chromosome 2q. TMD is a relatively mild rare autosomal dominant distal myopathy of the late adult years.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture
Article Abstract:
Two new mutations are identified among Saudis who are known for high prevalence of lactase persistence (LP). It is found to support the convergent evolution of LP in diverse populations, reflecting different histories of adaptation to milk culture.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
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