GreekIslandGirl wrote:History and genetics:
Author(s): CONSTANTINOS DELTAS
Title: FOUNDER MUTATIONS, HETEROZYGOUS
ADVANTAGE AND THALASSAEMIA IN CYPRUS
Abstract:
The Cyprus population used to compose a limited gene-pool for many thousands of years,
something that along with probable genetic drifts fostered multiple founder phenomena to show
up. Prime examples are the following:
1) Only five β-globin defects account for >98% of β-thalassaemia chromosomes
(three account for >90%). β-thal mutations used to have a frequency of 1/5-1/7 until
recently and is presently estimated around 1/8 among Greek-Cypriots.
2) The high frequency of the F508del mutation of the CFTR gene (responsible for Cystic Fibrosis),
in a small village at south-east of Nicosia, where 1/14 is a carrier. It has come down through
history that most probably a distant ancestor, presumably since the Frankish period was the
founder of a community on a feud of that region during the 16th century. These people had
survived the massacre that had followed the occupation of Famagusta by the Ottomans in 1571.
3) The nearly 20% frequency of mutation F479L in the MEFV gene, among patients who inherit
the Familial Mediterranean Fever. This same mutation and the accompanied common haplotype
is identical to the haplotype bearing the mutation among Armenians, who are known to have
migrated to Cyprus in refuge from persecutions by the Seltzuks Turks during the 12th century.
Genmedhist.info
gig i think the above accords with what I have been saying, namely a stable gene pool for many thousands of years with later influences and where there are differences these are seemingly highly localised and /or can be attributed to a specific ancestry, but which are not necessarily that common within the Greek speaking Cypriots. Thank you!
All the thalassemia research tends to indicate a similar percentage in the TSC populace - see eg
α-Thalassaemia in the population of Cyprus
E. Baysal1, M. Kleanthous1,2, G. Bozkurt1,3, A. Kyrri2, E. Kalogirou2, M. Angastiniotis2, P. Ioannou2, T. H. J. Huisman1,*
Article first published online: 7 JUL 2008
DOI: 10.1111/j.1365-2141.1995.tb08354.x
Keywords:
α-thalassaemia;haemoglobin H
We have determined the α-thalassaemia (α-thal) determinants in 78 patients with Hb H disease from Cyprus; 25 were Turkish Cypriots and 53 were Greek Cypriots. Four deletional and three non-deletional α-thal alleles were present; the -α(3.7 kb) α-thal-2 and the —MED-1α-thal-1 were most frequently seen; —MED-II and -(α)20.5 deletions occurred at considerably lower frequencies. About 15% of all chromosomes carried a non-deletional α-thal-2 allele; of these the 5 nucleotide (nt) deletion at the first intervening sequence (IVS-I) donor splice site was present in ˜ 8% of all chromosomes. Two types of polyadenylation signal (poly A) mutations were observed.
No striking frequency differences were seen between Greek and Turkish Cypriot patients. Combinations of the various types of α-thal resulted in eight different forms of Hb H disease. The phenotypes were comparable except for great variations in the level of Hb H which was highest (average ˜ 22%) in the 12 patients with the α5ntα/—MED-I combination. One patient with the same form of Hb H disease but with an additional β-thal (IVS-I-110, G → A) heterozygosity had a most severe microcytosis and hypochromia with < 1% Hb H. Variations in the level of Hb H might correlate with the severity of the disease, although this was not evident from the haematological data
In that respect the CFHR5 mutation does not help you as it is not even that common in Greek Speaking Cypriots: I think affecting one in 6000, restricted to a relatively small group of people from the same area, and if I have read the 2010 articles by Dale et al correctly which the 2013 article relates to all individuals likely descended from a common ancestor from about 300 years back. That it is so restricted to so few in a small area is probably attributable to historical geographical isolation. The picture might well have been different if the mutation had occured in an indidual living elswhere in Cyprus. However while it evidently affects only Greek Speaking Cypriots it affects such a small group it cannot be said to distinguish the Greek Speaking Cypriot population as a whole from the Turkish speaking Cypriots.
As for the proof you have been asking for I have provided plenty. With few execeptions such as the recent Deltas articles which do mot help you, but whioch you seek to wilfully misinterpret, your constant demands for proof, which i think I have fufilled are at best pathetic and verge on the abusive.
I would go so far as to say you are in denial about the origin of the Greek speaking Cypriots and the relationship to Turkish Speaking Cypriots, where the fact remains that the overwheming evidence tends to suggest that the TSC and GSC both mostly come from the same gene pool but that just as the (arguably incorrect) self identification of GSC as Greek flows from a conqust event and elitist cultural ascendancy so the same applies to TSC as, Turkish when both are indispudetly Cypriot (and indeed the English as Anglo Saxon or the Scots as Celtic) . However in my view both GSC and TSC with thier essentially shared Ancestry which long predates the existance of the modern political states of Greece have an ancestral right to live on the Island nd neither has any right based on incorect perceptions of ancestry to gift any part of the Island to those modern states of either Turkey or Greece.
