1999
DOI: 10.1007/s004390051081
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CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia

Abstract: Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disease, highly variable and multisystemic, which is caused by the expansion of a CTG repeat located in the 3' untranslated region of the DMPK gene. Normal alleles show a copy number of 5-37 repeats on normal chromosomes, amplified to 50-3000 copies on DM chromosomes. The trinucleotide repeat shows a trimodal allele distribution in the majority of the examined population. The first class includes alleles carrying (CTG)5, the second class, alleles … Show more

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Cited by 10 publications
(7 citation statements)
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“…3,5 The (CTG) 416 alleles were previously shown to associate exclusively with the Alu insertion polymorphism and be passed on consistently in different ethnic populations. 7,16,17 In this study, however, three (CTG) 19 alleles examined were associated with Alu deletion alleles. This is in contrast to a generally accepted proposal that the (CTG) 5 /Alu insertion evolved to (CTG) 19 in a unique event.…”
Section: Discussioncontrasting
confidence: 60%
“…3,5 The (CTG) 416 alleles were previously shown to associate exclusively with the Alu insertion polymorphism and be passed on consistently in different ethnic populations. 7,16,17 In this study, however, three (CTG) 19 alleles examined were associated with Alu deletion alleles. This is in contrast to a generally accepted proposal that the (CTG) 5 /Alu insertion evolved to (CTG) 19 in a unique event.…”
Section: Discussioncontrasting
confidence: 60%
“…The official language of Ethiopia is now Amharic, which is of Semitic origin, so the language distribution of the marathon athletes appears to be strongly influenced by some other factor. Studies into the frequency of certain gene polymorphisms in Ethiopia have, in some cases, shown significant differences in allelic frequencies and haplotypes between the two main ethnic groups of Ethiopia: Amhara and Oromo (5). Given the identification and association of particular gene polymorphisms with endurance performance (8,10), the excess of elite Ethiopian endurance athletes originating from one ethnic group may reflect a high frequency of potential "performance genes" within this particular group.…”
Section: Discussionmentioning
confidence: 94%
“…6,7 The occurrence of DM1 in a population is associated with the frequency of large normal CTG repeat lengths in the population. 5,[7][8][9][10][11] For example, about 12% of Europeans and 8% of Japanese harbor a CTG repeat number larger than 18 while only 1.4% of Taiwanese and 0.7% of southern Africans do. The frequency of large normal alleles has also been used to estimate the prevalence of DM1 in other populations including those of Korea, Chile and Iran.…”
Section: Introductionmentioning
confidence: 97%