In unserem geografischen Gebiet gibt es zwei Minderheitenpopulationen, die aus genetischer Sicht von Interesse sind, vor allem weil sie in der Vergangenheit praktiziert haben Inzucht und präsent hoch Blutsverwandtschaftund dafür, dass sie unter genetischen Engpässen gelitten haben, die dazu geführt haben Gründereffekt bei einigen Krankheiten.
- Mendelsche Krankheiten, die durch privative Mutationen mit Gründereffekt in der Zigeunerbevölkerung verursacht werden.
| Störung | OMIM* | Nachlass | Karte | Gen | Mutation |
| Standort | |||||
| primär angeboren | 231300 | A.R. | 14 Uhr 21 | CYP1B1 | E387K |
| Glaukom | |||||
| Galaktokinase | 230200 | A.R. | 17q24 | GK1 | P28T |
| Mangel | |||||
| Polyzystische Niere | 173900 | ANZEIGE. | 4q21-q23 | PKD2 | R306X** |
| Krankheit | |||||
| Erbliche motorische und | 601455 | A.R. | 8q24 | NDRG1 | R148X |
| Sensorische Neuropathie-Lom | |||||
| Erbliche motorische und | 605285 | A.R. | 10q23 | ||
| Sensorische Neuropathie-Russe | |||||
| Angeborener Katarakt im Gesicht | 604168 | A.R. | 18qter | ||
| Dysmorphismus-Neuropathie |
- Gemeldete Trägerraten einzelner Genstörungen bei Roma
| Störung | Land | Allgemein | Hohes Risiko |
| Rom | Gruppen | ||
| Primäres angeborenes Glaukom | Slowakei | 5% | *11% |
| Galaktokinase | Bulgarien | 2% | *4%-5% |
| Mangel | |||
| Autosomal-dominante polyzystische Erkrankung | Ungarn | 2.4% | |
| Nierenerkrankung | |||
| Erblich motorisch und sensorisch | Bulgarien | *2% | *20% |
| Neuropathie-Lom | |||
| Muskeldystrophie des Gliedmaßengürtels | **Bulgarien | 2% | 6% |
| Typ 2C | |||
| MCAD-Mangel | ***Spanien | *2.5%-10% | |
| Phenylketonurie | tschechisch | 6% | |
| Slowakei | |||
| Okulokutaner Albinismus | Spanien | 3.4% | |
| Fraser-Syndrom | Spanien | 2.7% | |
| Epidermolysis bullosa | Spanien | 2.4% |
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1.
Kalaydjieva L, Gresham D, Calafell F. Genetische Studien der Roma (Zigeuner): eine Übersicht. BMC Med Genet [Internet]. 2. April 2001 [zitiert am 11. April 2021];2:5. Erhältlich bei: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC31389/
Además de los cuadros anteriores, también hay descrita una forma de miastenia congénita que es más frecuente en la población gitana que en la población general, en particular la mutación epsilon1267delG en el gen de la subunidad epsilon del receptor de acetilcolina (AChR).
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1.
Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, et al. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology. 1999 Oct 22;53(7):1564–9.
