CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia

Human Genetics

Volumn 105, Issue 1-2, 1999, Pages 165-167

  Gennarelli, Massimo ^a,c   Pavoni, Marco ^a   Cruciani, Fulvio ^b   De Stefano, Gianfranco ^a   Dallapiccola, Bruno ^a   Novelli, Giuseppe ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; ETHIOPIA; ETHNIC GROUP; GENE LOCUS; GENE MUTATION; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MYOTONIC DYSTROPHY; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

EID: 0032764601     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900091     Document Type: Article

References (13)

1. Ashizawa T, Epstein HF (1991) Ethnic distribution of myotonic dystrophy gene. Lancet 338:642-643
2. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68:799-808
3. Cavalli-Sforza L, Menozzi P, Piazza A (1994) The history and geography of human genes. Princeton University Press, Princeton, USA
4. Deka R, Majumder PP, Shriver MD, Stivers DN, Zhong Y, Yu LM, Barrantes R, Yin SJ, Miki T, Hundrieser J, Bunker CH, McGarvey ST, Sakallah S, Ferrell RE, Chakraborty R (1996) Distribution and evolution of CTG repeats at the myotonin protein kinase gene in human populations. Genome Res 6:142-154
5. Goldman A, Ramsay M, Jenkins T (1996) Ethnicity and myotonic dystrophy: a possible explanation for its absence in sub-Saharan Africa. Ann Hum Genet 60(1):57-65
6. Haimanot RT (1996) Myopathies in Ethiopia. Afr J Neurol Sci 5: 23-30
7. Harper PS (1989) Myotonic dystrophy, 2nd edn. Saunders, London
8. Imbert G, Kretz C, Johnson K, Mandel JL (1993) Origin of the expansion mutation in myotonic dystrophy. Nature Genet 4:72-76
9. Levine DN (1974) Greater Ethiopia. University of Chicago Press, Chicago
10. Mahavedan MS, Foitzik MA, Surh LC, Korneluk RG (1993) Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy. Genomics 15:446-448
11. Passarino G, Semino O, Quintana-Murci L, Excoffier L, Hammer M, Santachiara-Benerecetti AS (1998) Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms. Am J Hum Genet 62: 420-434
12. Tishkoff SA, Goldman A, Calafell F, Speed WC, Deinard AS, Bonner-Tamir B, Kidd JR, Pakstis AJ, Jenkins T, Kidd KK (1998) A global haplotype analysis of myotonic dystrophy locus: implication for the evolution of modern humans and the origin of the myotonic dystrophy mutation. Am J Hum Genet 62: 1389-1402
13. Yamagata H, Miki T, Nakagawa M, Johnson K, Deka R, Ogihara T (1996) Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation. Hum Genet 97:145-147