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.

author: Peltonen, Leena, Somer, Hannu, Pulkkinen, Leena, Makela-Bengs, Paivi, Haravuori, Henna, Udd, Bjarne, Partanen, Juhani
Usage, Chromosome mapping, Genetic disorders, Muscular dystrophy, Geriatric neurology

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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.

author: Peltonen, Leena, Groop, Leif, Meyer, Brian, Enattah, Nabil Sabri, Alifrangis, Michael, Natah, Sirajedin, Comas, David, El-Shanti, Hatem, Jensen, Tine G.K., Nielsen, Mette, Lewinski, Rikke, Kuokkanen, Mikko, Rasinpera, Heli, Jeong Kee Seo, Khalil, Insaf F., Natah, Abdrazak, Ali, Ahmed, Mehdi, S. Qasim, Vestergaard, Else Marie, Imtiaz, Faiqa, Rashed, Mohamed S., Troelsen, Jesper
Population genetics, Allelomorphism, Alleles, Saudi Arabians

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Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples

Article Abstract:

A genomewide linkage screen of simple heavy-smoking quantitative trait is conducted using two independent samples. The study found significant evidence of linkage to chromosome 20 in the Finnish sample.

author: Kaprio, Jaakko, Martin, Nicholas G., Peltonen, Leena, Madden, Pamela A.F., Todd, Richard D., Wang, Jen C., Goate, Alison M., Heath, Andrew C., Montgomery, Grant W., Todorov, Alexandre A., Pergadia, Michele L., Saccone, Scott F., Loukola, Anu, Broms, Ulla, Agrawal, Arpana, Dick, Danielle M., Maunu, Heidi, Heikkila, Kauko, Morely, Katherine I., Rice, John P.
Analysis, Causes of, Risk factors, Smoking, Lung cancer, Quantitative trait loci, Clinical report

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subjects list: Research, Finland, Genetic aspects
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