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

Gennarelli, Massimo; Pavoni, M.; Cruciani, Fulvio; Stefano, Gianfranco De; Dallapiccola, Bruno; Novelli, Giuseppe

doi:10.1007/s004399900091

Cited by 10 publications

(8 citation statements)

References 13 publications

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“…Along with the North African Saharawi, the Basques and the Druze, they fall towards the other Sub‐Saharan African populations, though still within the broad western Eurasian cluster on the PC plot (Figure 2). This observation reflects previous research on the Amhara and Oromo, in which they were found to contain both elements of the African and Middle Eastern/European gene pools (Ciminelli et al 2002; De Stefano et al 2002; Gennarelli et al 1999). Furthermore, while some previous analyses have shown a statistically significant difference between the Amhara and Oromo (e.g.…”

Section: Discussionsupporting

confidence: 90%

“…Along the second component the higher frequency of B002 found in Ethiopian and Yemenite Jews, compared to the other Jewish populations, pulls them towards the Asian samples. Genetic, archaeological and cultural evidence suggests that there has been a close relationship between Ethiopia and southern Arabia, particularly Yemen (Barnavi 1992; Corbo et al 1999; Gennarelli et al 1999; Passarino et al 1998; Philipson 1993; Rosenberg et al 2001; Tartaglia et al 1996; Tishkoff et al 1998), resulting in periods of gene flow between the two regions; the X‐chromosome data presented here further supports this theory. While there has likely been very little direct gene flow between Ethiopian and Yemenite Jews, given the isolation of Ethiopian Jews as indicated by their pre‐Talmud cultural and religious practices, there has undoubtedly been direct gene flow between non‐Jewish Ethiopian and Yemenite populations, and hence indirect gene flow between the Ethiopian and Yemenite Jewish populations.…”

Section: Discussionsupporting

confidence: 70%

“…Furthermore, while some previous analyses have shown a statistically significant difference between the Amhara and Oromo (e.g. De Stefano et al 2002; Gennarelli et al 1999), others have failed to find such differences (e.g. Corbo et al 1999; Passarino et al 1998; Tartaglia et al 1996).…”

Section: Discussionmentioning

confidence: 83%

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Ethiopia: between Sub‐Saharan Africa and Western Eurasia

Lovell¹,

Moreau²,

Yotova³

et al. 2005

Annals of Human Genetics

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Summary Ethiopia is central to population genetic studies investigating the out of Africa expansion of modern humans, as shown by Y chromosome and mtDNA studies. To address the level of genetic differentiation within Ethiopia, and its relationship to Sub‐Saharan Africa and Eurasia, we studied an 8kb segment of the X‐chromosome from 72 chromosomes from the Amhara, Oromo and Ethiopian Jews, and compared these results with 804 chromosomes from Middle Eastern, African, Asian and European populations, and 22 newly typed Saharawi. Within Ethiopia the two largest ethnic groups, the Amhara and Oromo, were not found to be statistically distinct, based on an exact test of haplotype frequencies. The Ethiopian Jews appear as an admixed population, possibly of Jewish origin, though the data remain equivocal. There is evidence of a close relationship between Ethiopian and Yemenite Jews, likely a result of indirect gene flow. Within an African and Eurasian context, the distribution of alleles of a variable Tn repeat, and the spread of haplotypes containing Africa‐specific alleles, provide evidence of a genetic continuity from Sub‐Saharan Africa to the Near East, and furthermore suggest that a bottleneck occurred in Ethiopia associated with an out of Africa expansion. Ethiopian genetic heterogeneity, as evidenced by principal component analysis of haplotype frequencies, most likely resulted from periods of subsequent admixture. While these results are from the analysis of one locus, we feel that in association with data from other marker systems they add a complementary perspective on the history of Ethiopia.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 70%

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Ethiopia: between Sub‐Saharan Africa and Western Eurasia

Lovell¹,

Moreau²,

Yotova³

et al. 2005

Annals of Human Genetics

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“…This concurs with the data that report that 68% of apparently normal relatives of our DM patients refused to undergo DNA analysis. Furthermore, our results may be an underestimation of the real prevalence of oligosymptomatic DM patients if we consider the relative stability of minimal CTG expansion in affected families [22] and a theoretical still unknown clinical shifting rate among ‘pre‐mutation’ CTG expansion states [23,24].…”

Section: Discussionmentioning

confidence: 85%

Epidemiology of myotonic dystrophy in Italy: re‐apprisal after genetic diagnosis

et al. 2001

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Before the discovery of the myotonic dystrophy (DM) gene, the DM epidemiological rates could not be accurately estimated. The aim of this study was to calculate the DM prevalence rates in Padova (North-East Italy) and in four provinces of North-West Tuscany (Central Italy) and, as of 30 June 1999, to do so using molecular genetic testing. A minimum prevalence rate of 9.31x10(-5) inhabitants was found, consistent with epidemiological rates worldwide, and more than two times as high as those of two previous studies conducted in the same areas during the era prior to molecular genetic testing. This study, the first in Italy since the discovery of the DM gene, underlines the importance of direct genetic diagnosis of DM, especially in detecting mildly affected patients, a fundamental step in correctly estimating the risk of disease transmission in affected families.

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“…Furthermore, while some previous analyses have shown a statistically significant difference between the Amhara and Oromo (e.g. De Stefano et al 2002;Gennarelli et al 1999), others have failed to find such differences (e.g. Corbo et al 1999;Passarino et al 1998;Tartaglia et al 1996).…”

Section: Discussionmentioning

confidence: 89%

Ethiopia: between Sub-Saharan Africa and Western Eurasia

et al. 2005

View full text Add to dashboard Cite

Ethiopia is central to population genetic studies investigating the out of Africa expansion of modern humans, as shown by Y chromosome and mtDNA studies. To address the level of genetic differentiation within Ethiopia, and its relationship to Sub-Saharan Africa and Eurasia, we studied an 8 kb segment of the X-chromosome from 72 chromosomes from the Amhara, Oromo and Ethiopian Jews, and compared these results with 804 chromosomes from Middle Eastern, African, Asian and European populations, and 22 newly typed Saharawi. Within Ethiopia the two largest ethnic groups, the Amhara and Oromo, were not found to be statistically distinct, based on an exact test of haplotype frequencies. The Ethiopian Jews appear as an admixed population, possibly of Jewish origin, though the data remain equivocal. There is evidence of a close relationship between Ethiopian and Yemenite Jews, likely a result of indirect gene flow. Within an African and Eurasian context, the distribution of alleles of a variable T(n) repeat, and the spread of haplotypes containing Africa-specific alleles, provide evidence of a genetic continuity from Sub-Saharan Africa to the Near East, and furthermore suggest that a bottleneck occurred in Ethiopia associated with an out of Africa expansion. Ethiopian genetic heterogeneity, as evidenced by principal component analysis of haplotype frequencies, most likely resulted from periods of subsequent admixture. While these results are from the analysis of one locus, we feel that in association with data from other marker systems they add a complementary perspective on the history of Ethiopia.

show abstract

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

Cited by 10 publications

References 13 publications

Ethiopia: between Sub‐Saharan Africa and Western Eurasia

Ethiopia: between Sub‐Saharan Africa and Western Eurasia

Epidemiology of myotonic dystrophy in Italy: re‐apprisal after genetic diagnosis

Ethiopia: between Sub-Saharan Africa and Western Eurasia

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