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MY DISEASE (Studies/Paper (Croxen 1999 (The e1267delG mutation is likely…
MY DISEASE
Studies/Paper
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Abicht 1999
Forty-three CMS patients from 35 nonrelated families were clinically classified as sporadic cases of CMS and were analyzed for e1267delG
Homozygous e1267delG was identified in 13 CMS patients from 11 independent families. All e1267delG families were of Gypsy or southeastern European origin.
Benito 2016
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Fourteen (new!) members from two unrelated (Spanish) kindreds were followed up over a mean period of 9.9 years
Croxen 1999
The e1267delG mutation is likely to have arisen de novo on at least two separate occasions, and thus, this AChR deficiency syndrome is not the result of a single founder effect.
2 Pakistan, 2 India, 1 Egypt, 1 Greece
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Kalaydjieva 2005
importance of taking into account social (endogamy!?) and historical aspects of Roma when doing genetics research
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this research has also helped them (but their well-being is definitely secondary, maybe even a side effect)
Moorjani 2013
27 Roma samples belonging to six groups sampled from 4 countries in Europe (three separate ethnic groups from Hungary, and one group each from Romania, Spain and Slovakia)
our study has confirmed that the Roma have ancestry from South Asians (likely Northwest Indians) and West Eurasians (likely Eastern Europeans), with mixture occurring around 30 generations ago and major founder events shortly afterward.
Middleton 1999
All Gypsy patients included in this study, both Greek and Turkish, are homozygous for the ε1267delG
3 families and 13 patients from Greece, 1 family from Turkey
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Roma
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What is Roma for them, which groups?
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Genetics
how is it perceived?
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still, self-identification
used to justify historiographically claims #
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