作者: Luba Kalaydjieva , David Gresham , Francesc Calafell
关键词: Carrier testing 、 Population 、 Cultural anthropology 、 Demographic history 、 Public health 、 Medical genetics 、 Human genetics 、 Genetics 、 Epidemiology 、 Demography 、 Biology
摘要: Data provided by the social sciences as well genetic research suggest that 8-10 million Roma (Gypsies) who live in Europe today are best described a conglomerate of genetically isolated founder populations. The relationship between traditional structure observed Roma, where Group is primary unit, and boundaries, demographic history biological relatedness diverse populations appears complex has not been addressed population studies. Recent medical identified number novel, or previously known but rare conditions, caused private mutations. A summary findings, this review, should assist diagnosis counselling affected families, promote future collaborative research. available incomplete epidemiological data non-random distribution disease-causing mutations among Romani groups. Although far from systematic, published information indicates genetics an important role to play improving health underprivileged forgotten people Europe. Reported carrier rates for some Mendelian disorders range 5 -15%, sufficient justify newborn screening early treatment, community-based education testing programs no therapy currently available. To be most productive, studies epidemiology single gene take organisation cultural anthropology into consideration, thus allowing targeting public contributing understanding Roma.