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
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
Usage, Chromosome mapping, Genetic disorders, Muscular dystrophy, Geriatric neurology
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
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Population genetics, Allelomorphism, Alleles, Saudi Arabians
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.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Analysis, Causes of, Risk factors, Smoking, Lung cancer, Quantitative trait loci, Clinical report
subjects list: Research, Finland, Genetic aspects
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