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Thread: Derived Nodality in the Irish Population (Origin of the A1-B8-DR3-DQ2 Haplotype)

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    Derived Nodality in the Irish Population (Origin of the A1-B8-DR3-DQ2 Haplotype)

    Origin of the A1-B8-DR3-DQ2 haplotype, a haplotype that shows classic constriction/expasion derived nodality in the Irish population, A Case study in the evolution of HLA A*0101-Cw*07011-B*0801-DRB1*0301-DQA1*0501-DQB1*0201.

    Abstract: The study of the Super B8 haplotype is an interesting case study in the origin and spread of west eurasian caucasians. This haplotype was found to be regionally nodal in the Irish, and to have spread assymetrically via the norse into certain eastern european populations. Prior to this there is a suspect southeastern filling from western coast of pre-LGT to the highlands of post LGT-europe. And alternative is that the haplotype was transplanted from NW africa to western europe between 11 and 7 kya; however its high frequency in norse obviates probable afro-european migration after 7 kya. The origin of the Super-B8 haplotype can be deduced from the level of potential templates. The highest level of potential templates, by far, is in the Basque. Recent studies of the least admixed Basque reveal a number of sister or ancestral haplotypes to super-B8 and the basque have worlds nodal peak of the DRB1*0301-DQA1*0501-DQB1*02 haplotype, at very high percent. The Basque are either derived super b8 from the NW african population by an assymetric expansion into SW europe or via recombination of haplotypes present in the NW africa population. The origin of the template haplotypes in the basque indicate either an early east african migration to NW africa or the admix of central and east african migrants into NW africa. Despite its high frequency the origins of Super B8 have been difficult to trace additional new information on the Morrocans, Berbers and other North and east africans has made it possible to construct more plausible arguements. The conclusion of origin is clearly north africa mediated through iberian and southern french population.

    Methods: This study is based on the study of haplotypes which potentially comprise major haplotypes in any populations. The logic is that every haplotype should have the ancestral templates at some level or length in the population. Determine the most probable nodal center for a haplotype examine it for possible transplantation from other populations as a part of assymetrically representative migrations, and then determine potential source population. The base assumption is that every population is an admix of other populations, therefore allele frequencies are useless. In addition haplotypes are useful because they resist the loss of confusion of allele specific information. For example A3 Cw7 B7 and A1 Cw7 B8 might have similar origin or recent origins from the same Cw7 carrying allele. However examination of many study reveals that Cw7 in A3 Cw7 B7 is the 0702 variant in in A1 Cw7 B8 the 0701 variant, both can trace their origins independently to africa. Thus only via haplotype analysis can one resolve potential conflicts or ambiguities. The drawback of haplotype analysis is that except in the very best studies this analysis on reflects a % of the population sometimes a low percent dependent on how old and large the population has been. This is not a particular problem in europe because most populations show a trend of recent expansion within the longer context of human history.

    Base comparison for the Irish in ‘Finch et al. Exp Clin. Immunogenetic 1997;14 250-263’
    Primary Data base ‘HLA 1991 Proceedings of the Eleventh International
    Histocompatibility Workshop and Conference. Oxford University Press, 1992’.
    Many other papers used in this comparison. Notable papers are referenced.
    Also, all percent values are in allelefrequency not phenotype frequency.
    Phenotype frequency = Roughly 2 x allele frequency as long as f(allele) is small.


    Nomenclature (normally not neccesary but the paper uses odd nomenclature).
    [Nomenclature for factors of the HLA system 1998, Bodmer et al., Tissue Antigens]
    A1 A*0101,2
    A2 A*0201 to 0209,0211 to 0214,. . . .
    A3 A*0301, 0302, 0304
    A9 A23, some A24
    A10 [A25, A26]
    A11 A*1101 to 1104
    A19 [A29,31,32]
    A23 A*2301
    A24 A*2402 to 2409
    A25 A*2501
    A26 A*2601 to 2608
    A28 [:A68, A69]
    A29 A*2901, 2902
    A31 A*3102 to 3104
    A32 A*3201 to 3203
    A68 A*6801 to 6804
    A69 A*6901

    B5 some B51, B52 B*5106
    B7 B*070X (Except 0708,10,12)
    B8 B*080X (Except 0804,5)
    B12 [B44,B45] B*4409
    B13 B*1301, 1302
    B14 B*1401 to 1403
    B15 B*150X
    B16 [B38, B39]
    B17 [B57, B58]
    B18 B*1801
    B21 [B49,B50]
    B27 B*270x
    B35 B*350x
    B37 B*3701
    B38 B*380x
    B39 B*390x
    B40 B*400x (Except 4005,7,8)
    B44 B*4401 to 4408
    B45 B*4501 to 4502
    B49 B*4901
    B50 B*5001
    B51 B*5101 to 5105,5107 to 5109
    B52 B*5201
    B57 B*5701 to 5704
    B58 B*5801 to 5803
    B60 B*4001, 4010
    B61 B*4002,6,9
    B62,63, [B15]
    B64 [B14]
    B65 [B14]
    B70,71,75,76,77 [B15]

    DQ2 = DQB1*02


    Sorry about the confusion, this is sort of the 'secret' hand shake of immunogenetics, heh-heh.
    *Unless stated otherwise assume all frequencies are derived from the 1991 HLA Workshop.

    Results:
    All Haplotypes listed According to descending A-B-DR frequency.
    Each is borken down and compared (assume f(Cw-B) > f(A-B) for Irish)

    "super-B8" A1 [Cw7] B8 DR3 (DQ given if typed)
    People % Haplotype as Presented (Spaces added for alignment)
    Irish 11.5* A 1 -B 8 -DR 3 [Finch et al. Tissue Antigens 2001 58;9-18]
    N. Irish 9.0* A*0101-Cw*07011-B*0801-DRB1*03011 [IMGT “allele frequencies” Database]
    Hungarian 8.6* A 1 -B 8 -DR 3
    Cornish 8.4* A 1 -B 8 -DR 3 -DQ 2
    German 6.4* A 1 -B 8 -DR 3 [Human Immunology 2003,63:137-151]
    Austrian 6.4* A 1 -B 8 -DR 3 -DQ 2
    British 6.4* A 1 -B 8 -DR 3
    Dane 6.1* A 1 -B 8 -DR 3
    French 6.1* A*0101-Cw*0701 -B*0801-DRB1*0301 [Tissue Antigens 2001, 56:392-402]
    Macedonian >4.9* A*01 -B*08 DRB1*0301- -DQB1*02 [Tissue Antigens 2001, 57:118-127]
    Croatian >4.3* A 1 -B 8 DRB1*0301-DQA1*0501-DQB1*02 [Eur. J. Immunogenetics 1999, 26:385-387]
    Czech 3.8** A 1 -B 8 -DR 3
    Basque 3.6* A 1 -B 8 -DR 3 -DQ 2
    Swiss >2.9* A*01 -B*08 -DRB1*0301 [Eur. J. Immunogenetics 1994, 21:143-157]
    Greek 2.2 A*01 -B*08 -DRB1*0301 [Human Immunology 2000, 61:615-623]
    Albanian 2.1 A 1 -B 8 -DR 3
    Svanetian >1.3 A*01 -B*08 -DRB1*0301-DQA1*0501 [Tissue Antigens 2001, 58:223-233]
    Cretans >1.1 A 1 -B 8 -DRB1*03011DQA1*0501-DQB1*02 [Tissue Antigens 1999, 53:213-226]


    [What to take note of in the above is the gradient from extreme NW europe to the mediterranean, with the exception of outliers like the hungarian and slovakian, likely affected by the activities of the prehistoric Norse and Viking period, this haplotype is on a cline, with good nodality in Ireland. Historic patterns as well as the length and preservation of the entire haplotype in most europeans is STONGLY indicative of recent expansion from a single nodal source. Blank information is information not given in the paper referenced, not differences, as of 2000 there was not a test that effectively typed 0201/0202, now there is]
    [Also the IMGT HLA/MHC database has many populations in it, one has to play
    around to get the information one wants, while it has some populations
    like the Omani and others not published except in hard to get books, be aware
    it is rather limited database and represents a small fraction of what is
    published in the 1991 Workshop].


    -A1 B8

    Irish 14.3% A 1 -B 8 [Finch et al. Tissue Antigens 2001 58;9-18]
    Slovak 11.9 A 1 -B 8
    N. Irish 11.5* A*0101 -B*0801 [IMGT “allele frequencies” Database]
    Swedish 11.5* A 1 -B 8
    British 9.7* A 1 -B 8
    Yugoslav 9.7 A 1 -B 8
    Hungarian 9.4 A 1 -B 8
    S.Afr.Neg 8.7 A 1 -B 8
    Cornish 8.3** A 1 -B 8
    German 8.3* A 1 -B 8 [Human Immunology 2003,63:137-151]
    Dane 8.2* A 1 -B 8
    Czech 7.8* A 1 -B 8
    Swiss 7.7* A 1 -B 8
    Croat 6.0 A 1 -B 8
    Belgium 5.5** A 1 -B 8
    French 4.6* A 1 -B 8
    Austrian 4.5** A 1 -B 8
    Romanian 4.4 A 1 -B 8
    Ukraine 4.3 A 1 -B 8
    Portuguese 4.2 A 1 -B 8
    Italian 4.2* A 1 -B 8
    Basque 4.2 A 1 -B 8
    Polish 4.0 A 1 -B 8
    Uralic 3.1 A 1 -B 8
    Spanish 2.8 A 1 -B 8
    Albanian 2.5 A 1 -B 8
    Greek 2.3 A 1 -B 8
    Cretans 1.8 A 1 -B 8
    Omani 1.4 A 1 -B 8
    S.E. India <1.0 A 1 -B 8




    -Cw7 B8
    People %
    Irish >14.3 A 1 -B 8 [Finch et al. Tissue Antigens 2001 58;9-18]
    N. Irish >16.0** A*0101-Cw*07011-B*0801 [IMGT “allele frequencies” Database]
    Cornish 11.4** -Cw 7 -B 8
    Hungarian 11.4* -Cw 7 -B 8
    Swedish 11.0* -Cw 7 -B 8
    French 11.0* -Cw*0701 -B*0801 [Tissue Antigens 2001, 56:392-402]
    British 10.7* -Cw 7 -B 8
    Slovak 10.6* -Cw 7 -B 8
    Austria 9.2** -Cw 7 -B 8
    German 8.9 -Cw 7 -B 8
    Yugoslav 8.8 -Cw 7 -B 8
    Tribal.Ind 6.4 -Cw 7 -B 8
    Czech 6.3 -Cw 7 -B 8
    Spanish 6.0 -Cw 7 -B 8
    Basque 5.8 -Cw 7 -B 8
    Mongol 5.8 -Cw 7 -B 8
    Cape.Afr. 5.7 -Cw 7 -B 8
    French 5.4 -Cw 7 -B 8
    Dane 5.2 -Cw 7 -B 8
    Polish 5.0 -Cw 7 -B 8
    Ukraine 5.0 -Cw 7 -B 8
    Italian 4.8 -Cw 7 -B 8
    Uygar 4.7 -Cw 7 -B 8
    Belgium 4.1 -Cw 7 -B 8
    Portuguese 4.0 -Cw 7 -B 8
    Romanian 3.7 -Cw 7 -B 8
    N. Indian 3.0 -Cw 7 -B 8
    Uralic 2.8 -Cw 7 -B 8
    Greek 2.6 -Cw 7 -B 8
    Armenia 2.1 -Cw 7 -B 8
    San(!kung) 2.0 -Cw 7 -B 8


    Presence of Cw7-B8 demonstrates origins from west africa or from east africa via middle east
    or iberia into europe. Haplotype frequency clearly predominants wester europe or populations
    (like swedish-slovak) predicted to be derivatives of eastward migration if protoIrish/Cornish/Norse
    To the south past india the frequency drops to near zero. The nodal center for this haplotype is in Ireland and this is one of the predominant haplotypes in the world. Eliminating the more likely
    recent transmission by the vikings, the predominant carrier of the Cw7 B8 are the basque.


    -B8 DR3

    People %
    Irish 13.8* -B 8 -DR 3 [Finch et al. Tissue Antigens 2001 58;9-18]
    Hungar 11.8 -B 8 -DR 3
    British 10.4* -B 8 -DR 3
    Austria 9.7 -B 8 -DR 3
    Yugo 9.7* -B 8 -DR 3
    Cornish 9.9* -B 8 -DR 3
    German 8.0 -B 8 -DR 3 [Human Immunology 2003,63:137-151]
    Dane 7.4 -B 8 -DR 3
    French 6.1 -B 8 -DR 3
    Protugues 5.9 -B 8 -DR 3
    Croat 5.3** -B 8 -DR 3
    Italian 4.9 -B 8 -DR 3
    Romanian 4.9 -B 8 -DR 3
    Czech 4.7 -B 8 -DR 3
    Mongol 4.5 -B 8 -DR 3
    Basque 4.5 -B 8 -DR 3
    Uralic 4.2 -B 8 -DR 3
    Inner Mong 3.7 -B 8 -DR 3
    Spanish 3.6 -B 8 -DR 3
    S.Africa.Bl 3.0 -B 8 -DR 3
    Greek 3.3 -B 8 -DR 3
    Aremian 3.1 -B 8 -DR 3
    Belgium 2.8 -B 8 -DR 3
    Albania 2.4 -B 8 -DR 3
    S.Afr.Cap.Bl 2.3 -B 8 -DR 3



    DRB1*0301-DQA1*0501-DQB1*02
    % Haplotype as Presented
    Basque 2000 35 -DRB1*0301-DQA1*0501-DQB1*02 [Human Immunology 2000, 61:930-936]
    Sardinia 21.9 -DRB1*0301-DQA1*0501-DQB1*02 [Tissue Antigens 2000, 56:515-521]
    Basque 1991 21.9** -DR 3 -DQ 2
    Romanian 14.6* -DRB1*0301- -DQB1*02
    Berbers 14.1* -DRB1*0301- -DQB1*02
    S. France 12.7* -DRB1*03 -DQB1*02 [Human Immunology 2000, 61:930-936]
    British 12.4* -DR 3 -DQ 2
    Hungarian 12.0* -DR 3 -DQ 2
    Yugoslav 12.0 -DR 3 -DQ 2
    Cornish 11.4 -DR 3 -DQ 2
    Dane 11.3 -DRB1*0301-DQA1*0501-DQB1*02
    Aka Pygmies 11.2 -DRB1*0301- -DQB1*02
    Austrian 11.1 -DR 3 -DQ 2
    French 11.0** -DRB1*0301-DQA1*0501-DQB1*02
    Poland 10.7 -DRB1*0301-DQA1*0501-DQB1*02
    Croatian 10.0** -DRB1*0301-DQA1*0501-DQB1*0201 [Eur. J. Immunogentics 1999, 26:385-387]
    Italian 10.0** -DRB1*0301- -DQB1*02
    Iranian 10.0** -DRB1*0301-DQA1*0501-DQB1*0201 [Human Immunology 2001, 62:1234-1238]
    Armenian 9.9 -DR 3 -DQ 2
    German 9.9 -DR 3 -DQ 2
    Senegal 9.6** -DRB1*0301- -DQB1*02
    Turkey 9.2 -DRB1*0301-DQA1*0501-DQB1*02 [Tissue Antigens 2000, 55:171-174]
    Russo-Slav 9.0 -DRB1*0301-DQA1*0501-DQB1*02 [Tissue Antigens 1999, 54:517-520]
    N.Afr.Bl 8.9 -DR 3 -DQ 2
    Bane 8.9 -DR 3 -DQ 2
    Zimbabwe 8.4 -DR 3 -DQ 2
    Albanian 8.3 -DR 3 -DQ 2
    Belgium 8.2 -DR 3 -DQ 2
    Uralic 8.2 -DR 3 -DQ 2
    mongolian 7.8 -DR 3 -DQ 2
    German 7.7 -DRB1*0301-DQA1*0501-DQB1*02
    Cretan 7.4 -DRB1*0301-DQA1*0501-DQB1*02
    S.Afr.Bl 7.3 -DR 3 -DQ 2
    Portuguese 7.1 -DR 3 -DQ 2
    S.Afr.Cap.Bl 6.7 -DR 3 -DQ 2
    Spanish 6.6 -DRB1*0301- -DQB1*02
    Cameroon 6.3 -DRB1*03011DQA1*05011DQB1*0201 [Tissue Antigens 2001, 58:1-8]
    Greeks 6.3 -DRB1*0301-DQA1*0501-DQB1*02
    Gabon-Banzabi6.1 -DRB1*03 -DQA1*0501-DQB1*02 [Tissue Antigens 1999, 53:580-585]
    Indian 5.7 -DRB1*0301- -DQB1*02
    I Mongol 5.6 -DR 3 -DQ 2
    Timor 5.5 -DR 3 -DQ 2
    Hottentot 5.5 -DRB1*0301-DQA1*0501-DQB1*02
    S.Afr.Neg 4.6 -DRB1*0301-DQA1*0501-DQB1*02
    Uralic 4.3 -DR 3 -DQ 2
    Thais 4.2 -DR 3 -DQ 2
    Vietnamese 4.2 -DR 3 -DQ 2
    Manchu 3.7 -DR 3 -DQ 2
    Li 3.6 -DR 3 -DQ 2
    Korean 3.2 -DRB1*0301- -DQB1*02
    Moari 2.9 -DR 3 -DQ 2
    N.Han 2.3 -DR 3 -DQ 2
    S.Han 2.1 -DR 3 -DQ 2
    Spanish 2.2 -DRB1*XXXX-DQA1*0501-DQB1*02
    Inuit 1.7 -DRB1*0301- -DQB1*02
    Pasiegos.Spn 0.9 -DRB1*0301- -DQB1*02 [Tissue Antigens 1999, 53:65-73]
    Japanese 0.7 -DRB1*0301- -DQB1*02
    PNG Highlnd ~0.0



    Notes: Irish, N.Irish not specifically typed at these 3 loci (assume F>=14%). While a significant amount of DR3-DQ2 can be matched with super B8 in europe in north africa and sardinia much of the DR3-DR2 is equilibrated suggesting a longer and more ‘expansive’ history in these populations. The level of the basque is reported relative to the Sardinian, which was reported on a psuedofrequency scale in Gibert et al. Human Immunology 61; 930-936]. The 1991 workshops list the serotype for the basque at DR3-DQ2 as 21.9% however other papers claim this number is low because the sample came from more admixed Basques. DRB1*0301 is absent south of Japan on the west pacific rim. DQB1*0201 is absent in much of SE asia withe the exception of SW china. Previous studies of chinese and thias exhibit a large expansion from the border region of southern china into Vietnamese, S.Han, Buyi, however this expansion tapered in korean and especially Japan. Studies of oceanians reveal this haplotype present spottily with eurasian admixture a recent introduction.


    Examination for potential Recombination Templates

    Notable Recombinants or Potential Templates. ... = information not given, either no information
    on the loci or specifics about the variant at the loci
    Basque 15.2* A.............-B.18..-DR....3............-DQ....2 (Sard. 14.9*, Berbers 2.3**, Span>1.5)
    Basque 7.7* A.30..-Cw..5..-B.18..-DR....3............-DQ....2 (Spanish>1.5, Berbers 1.5)
    Berbers 5.0* ......-.......-B..8..-DRB1*0301-DQA1*0501-DQB1*02
    Belgium 4.6* A..1..-.......-B..8..-DR...11............-DQ....7 (German 0.3)
    Bulgarian 4.5 A*0201-Cw*07..-B.18.. (Greek 2.7)
    Basque 3.6* A.24..-.......-B.18..-DR....3............-DQ....2
    Uralic 3.4 A..1..-.......-B..8..-DR....4 (Irish 0.5)
    GollaKarnam 2.9 A..2..-Cw..7..-B..8..-DR....3 (Irish 1.2, Greek 1.2, Italian 0.7, German 0.6)
    Czech 2.8 A..1..-Cw..7..-B..8..-DR....3............-DQ....1 (Svanetians)
    Basque 2.7 A..1..-Cw..7..-B..7..-DRB1*0301-DQA1*0501-DQB1*02
    Basque 2.7 A..1..-Cw..7..-B..7..-DRB1*0701-DQA1*0201-DQB1*0201
    Golla-Karnam2.5 A.24..-.......-B..8..-DR....3 (Golla-Doddi 2.3, Golla-Puja 2.5)
    Basque 2.1 A..1..-Cw..7..-B.57..-DR....7............-DQ....2
    Basque 2.0 A..X..-.......-B.18..-DR....3............-DQ....2
    S.Afr.Bl 2.2 A.30..-.......-B..8..-DR....7............-DQ....2
    Austrian 2.2 A..2..-.......-B..8..-DR....3............-DQ....2 (german 1.2, Italian 0.7)
    Sardinia 2.1 ..............-B.39..-DR....3............-DQ....2
    Sardinia 2.0 ..............-B.44..-DR....3............-DQ....2
    Greek 1.1 A..2..-.......-B..8..-DR....3............-DQ....1
    Greek 1.1 A..3..-Cw..4..-B.35..-DR....3............-DQ....2 (sardinia 2.7)
    Basque 1.3 A..1..-Cw..7..-B..8..-DRB1*0101-DQA1*0101-DQB1*0101
    Irish 1.3 A..1..-.......-B..8..-DR...15 (German 0.4)
    Irish 0.7 A..1..-.......-B..8..-DR....7 (Italian 0.5)
    Swiss 1.8 A..2..-Cw..7..-B..8..- (Greek 1.2)
    Irish 2.1 A..1..-Cw*0701-B.57..- (Pakistan-Burusho 2.0, German 1.4)
    Irish 1.7 A..1..-.......-B..7..- (German 1.0)
    Irish 1.0 A..1..-.......-B.44..- (German 0.5)
    Greek 0.9 A..1..-Cw..7..-B.18..-
    Irish 0.9 A..1..-.......-B.37..- (German 0.6)
    Irish 0.8 A..1..-.......-B.14..-
    German 0.6 A..1..-.......-B.35..-
    Greek 1.2 A..2..-Cw.12..-B.18.. (see Note)
    Cape.Bl 4.2 A.30..-Cw..7..-B 8
    S.afr.Bl 2.4 A.30..-Cw..7..-B 8
    !kung 5.5 A.30..-Cw..2..-B 8
    !kung 5.3 A. 2..-Cw..2..-B 8
    Swedish 3.6 A. 2..- -B 8 (Zimbabwe 2.7, British 2.1, Cornish 2.1, Irish 1.3 . .)
    !kung 2.6 A.28..- -B 8
    Senegal 3.5 A.26..-Cw..10 -B 8 (Iyers 2.7, Tribal 2.0,
    S.Afr.Bl 2.4 A.23..- -B 8
    A X -B 8

    Note: 2 papers [Casado et al. Tissue Antigens 2000, 55:239-249, Choukri et al.
    Eur. J. Immunogenetics 29, 205-211] Found both A1 and B8 haplotypes in the morocco/berber
    population, however there is no signficant association of A1 and B8, Ax B8 haplotypes are
    equilibrated. The Greek A2-Cw12-B18 may have some relevance, at a lower frequency than Super
    B8 there is a CBL variant of A1-B8, this variant Cw may be Cw12 since Cw types 12 to 16
    not serotyped in 1991 workshop. More recent Basque data comes from Valasco and Leyva-Cobian.
    Tissue Antigens 2001:58:223-233. Highlanders have no haps containing A1, B8 or C7 australos
    have one hap containing Cw7, making SE asia distal to the evolution of super B8 even with
    respect to africa.

    Best Matches from Notable Recombinants or Potential Templates.
    [From populations high in potential templates but low in actual haplotypes]
    Berbers 5.0* ......-.......-B..8..-DRB1*0301-DQA1*0501-DQB1*02
    Basque 2.7 A..1..-Cw..7..-B..7..-DRB1*0301-DQA1*0501-DQB1*02
    Czech 2.8 A..1..-Cw..7..-B..8..-DRB1*0301-DQA1*0501-DQ....1 (Svanetians)
    Austrian 2.2 A..2..-.......-B..8..-DR....3............-DQ....2 (german 1.2, Italian 0.7)
    Basque 15.2* A.............-B.18..-DR....3............-DQ....2 (Sard. 14.9*, Berbers 2.3**, Span>1.5)
    Belgium 4.6* A..1..-.......-B..8..-DR...11............-DQ....7 (German 0.3)
    Uralic 3.4 A..1..-.......-B..8..-DR....4 (Irish 0.5)
    Basque 2.7 A..1..-Cw..7..-B..7..-DRB1*0701-DQA1*0201-DQB1*0201
    Sardinia 2.1 ..............-B.39..-DR....3............-DQ....2
    Sardinia 2.0 ..............-B.44..-DR....3............-DQ....2
    Irish 1.3 A..1..-.......-B..8..-DR...15 (German 0.4)
    Basque 1.3 A..1..-Cw..7..-B..8..-DRB1*0101-DQA1*0101-DQB1*0101
    Golla-Karnam2.9 A..2..-Cw..7..-B..8..-DR....3 (Irish 1.2, Greek 1.2, Italian 0.7, German 0.6)
    Frequency not associated with Super-B8
    Sardinia 24.1 DRB1*0301-DQA1*0501-DQB1*02
    Basque ~22.0 DRB1*0301-DQA1*0501-DQB1*02
    Berbers 14.0 DRB1*0301-.........-DQB1*02
    Aka Pygmies 11.2 DRB1*0301-.........-DQB1*02
    Romanian 10.0 DRB1*0301-.........-DQB1*02
    Senegal 9.6** DRB1*0301-.........-DQB1*02
    Poland 6.7 DRB1*0301-DQA1*0501-DQB1*02
    Italian 5.7** DRB1*0301-.........-DQB1*02
    Dane 5.2 DRB1*0301-DQA1*0501-DQB1*02
    French 4.9 DRB1*0301-DQA1*0501-DQB1*02

    Basque are the most likely source of Super-B8 in Irish, either as the asymetric expansion of a rare haplotype in the archeoBerber population or as a result of recombination. Secondary assymetric expansion occurred via migration from region of ancient Basque to Ireland. If we are to try to follow this haplotype it would suggest a route from the eastern coast of spain into sw france, up the western coast of France and into Ireland as the most direct route.

    Quotations from the Literature.
    “An Iberomarussian culture was established in North Africa before 11,000 BC and a Capsian cultur appeared around 7000 BC. It seems that southern Sahara Neolithic transition occurred earlier than in the North”

    I agree.

    “by 7000 BC Souther pottery appeared in the East(Nile Valley) and may be the predecessor of pottery production in the Near East(3). There are sevearl tyopes of skeletons from the iberomarussian and Capsian periods”

    Yes the genetic shows gene from from both West and East africa, possibly from Europe also.

    “but there is not sign of discontinuity between individuals belonging to these cultures”.
    [Gomez-Casado et al. 2000, 55:239-249]

    “Interesting the frequencies of HLA DRB1*03 and HLA DRB1*03-DQB1*02 is which characterize Basque, Sardinians and North Africa was present at the highest value in europe in the population of Marsielles 127%”

    Marsielle is at the Gulf of Lion on the Rhone river delta. ½ way between italy and france. It is at the approximate location of a non-I/E civilization once rumored by the greeks to have existed before the romans conquered the region.

    “The HLA DRB1*03-DQB1*02 is above all represend among Basque Sardinians, and North Africans. It was defined previously as Iberian-Paleo-North African [12,13] because of its distribution
    (Magreb, Spain, Portugal) which corresponds to the repartition of
    Ibero-marusian culture at the end of the Paleolithic period

    [Gilbert et al. Human Immunology 61:930-936]

    Probably redistributed much before this, the presence in the Irish
    and the nodal spread to the NE suggest that recombinants had formed
    earlier and expanded assymetrically into the Irish. There is already evidence of Ilses occupation 12kya before the LGT and the probability exists that this haplotype was in NW europe before the
    last glacial maximum. I would place the entry of this haplotype into europe at least 20 to 25 kya.

    The literature clearly supports a North African origin for this haplotype and also clearly showing migration, probably along the eastern coast of spain, southern france and into the basque.From this point I can clearly establish the Basque as the most appropriate intermediate for the A1-B8-DR3-DQ2 instance of the haplotype as it expanded assymetrically from the Basque. The Rhone river was probably once the eastern edge ob the Basque people, and within this context probably existed as a gradient of more Sardinian/Iberian haplotypes to more protoIrish/Cornish haplotypes in the North. I surmise at the LGM these 2 groups were neccesarily split and after the LGT became formally separated by the english channel. In this gradient there is Belgium of course and it indicates a potential other end. Much more detailed and useful information on the peoples of the region if the French would sit down and do regional HLA studies, particularly of western france. Whether or not the Basque stand up as a sole intermediate or as a sister population will depend on the accuracy of these studies. I should add that this ‘channel’ of migration along the west coast, the Rhone or Glacial events appeared to partition haplotypes from east asian directed migrations. Other haplotypes that favor a west european coastal migration are also absent in East Asia. Thus while there are studies that show a broad scale Basque influence in Asia, I favor a diffusive gene flow from the basque into the eastern france/italian/german/swiss/austria region followed by partitioning and migration. However the western coastal migratory path is one that cannot be dismissed as this haplotype accounts, alone, for about 20% of Irish HLA makeup [See Below].


    Conclusions for Super B8 haplotype. The origins of the Super B8 haplotype, the highest frequency haplotype in europeans, has not been easy to cipher. After the publishing of the 1991 workshop it was possible to point in the direction of the Cornish as a most likely ‘post expansion’ source of this haplotype for other europeans, addition of the Irish and now the Northern Irish give further compelling evidence that its high frequency is do to an assymetric expansion in the protoIrish/Cornish population. This does not however answer the specific questions of where this haplotype originated. The level of the DR3-DQ2 haplotype in sardinia, basque and berbers and the lack of the association of DR3-DQ2 with A1-B8 in the North Africa population is very suggestive that this portion of the recombinant came from northwestern africa, through sardinia or the basque (Both share the haplotype A30-cw5/?-B18-DR3-DQ2) which is nodal in sardinians. Therefore it is possible to conclude that the Class II haplotype DR3-DQ2 likely came from this direction. The Berbers have A1 and B8-DR3-DQ2 at 5.0% level and this peak haplotype in the berbers, but it is fully equilibrated with regard to A1. This level of A1 is higher compared to east and west africans. Therefore it is possible that the A1-B8-DR3-DQ2 originated in west africa and expanded assymetrically by the migration of a small number of related rare carriers into europe.

    Missing in west africa are many of the elements; however, these elements are at high frequency in the !kung and both A1 and B8 are higher in the kenyan than in the cameroon population. This suggest that the basis for this haplotype originally might have expanded from east africa. The A*01 allelogroup is ~4.0% in Kenya and is 1.1% in Cameron [Tissue Antigens 2000, 56:291-302, Tissue Antigens 2001:58:2111-258, Tissue Antigen 2002, 59:370-380]. Whereas B8 is roughly equal between these two groups B08 in senegal is associated with Cw*0304 not Cw*07, and the Cw*07-B8 link is very strong. The Cw7 B8 is found in Endemic South Africans, !kung [who have the greatest CwX-B8 diversity]. This connection with the !kung and the mtDNA suggesting a trail between east africa and the click speakers of south africa places a potential migration of Cw7-B8 into middle east, india and austronesia. However the B8 haplotype not found past india, likewise the DR3-DQ2 haplotype is attributable in oceania and native americans to recent admixture with europeans. Therefore its presence in the Dravidian of southeast India indicate strongly that this Cw7-B8 once existed in east africa at higher than present frequencies. However there is little convincing evidence that the haplotype moved from Eastern Indian to Europe. More than likely there was an anceint migration from east africa to north and then northwest africa from east africa. I can make the case for such a migration.
    1. The super B8 haplotype was probably in NW europe before the last glacial maximum maintained by constrictive conditions until the after the LGT when it expanded.
    2. The present data suggest either a Berber origin possibly through spain and the basque; however the recombinants expected in the basque are missing. The A1 haps in the Irish are probable recombinants of super B8. [see Also Eur. J. Immunogenetics 2002, 29:205-211]
    3. Therefore it is likely formed between the Basque and the Irish populations (protoBelgium?) potentially with the influx of A1 bearing haplotypes, which are more common in the middle east.
    4. However I suspect the middle eastern A1-B58 are actually recent arrivals from northern africa.
    5. The sardinian haplotype B18-DR3-DQ2 is likely one of the oldest haplotypes north of africas mediterranean coast, it is highly likely the B8-DR3-DQ2 in the berbers migrated at the same
    time, either through sardinia or through spain or portugal.
    6. The haplotype was probably pushed north by subsequent waves of migrations. Super B8 exists in both the spanish and basque, and the levels are not likely explained by viking activities in these regions.
    however the lack of recombinants in either population has to be questioned.
    7. The lack of clear connections from south east india and the A1 haplotype suggest that the most likely route is from the NW corner of africa to iberia though the basque region and up into europe in the population that founded the protoIrish.

    Conclusion: Origin of super-B8
    Prerecombinant (140 to 80 kya)
    Central africa----->East Africa----->Northwest africa
    Alternative
    Central africa----->East Africa----->Northwest africa.
    Central Africa-->
    Transitional/Recombinant (80 kya to 30 kya)
    Northwest africa----->Iberia-------->archaeoBasque [Preferred]
    alternative:
    Northern africa------>sardinia------>archaeoBasque
    Constriction (40 kya to 10 kya)
    archeoBasque------------->ProtoIrish
    Expansive (10 Kya to present)
    ProtoIrish---------->Irish, Cornish, Viking other proximal europeans living north and west of alps.
    Vikings --------->Multiple settlements over east asia.

    Alternative (requires a post LGT constriction between 11 and 7 kya in protoIrish)
    Transitional/Recombinant (80 kya to 11 kya)
    Northwest africa----->Iberia-------->archaeoBasque [Preferred]
    alternative:
    Northern africa------>sardinia------>archaeoBasque
    Constriction (11 kya to 7 kya)
    archeoBasque------------->ProtoIrish
    Expansive (7 Kya to present)
    ProtoIrish---------->Irish, Cornish, Viking other proximal europeans living north and west of alps.
    Vikings --------->Multiple settlements over western eurasia.

    Genetic Impact of Super B8 in Irish (estimating the theoretical percent).
    Evolution of A1-B8-DR3-DQ2 and all the recombinants (weighed per portion
    contributed and adjusted) account for about 21% of Irish HLA(weighed %)


    source:

    http://groups.yahoo.com/group/DNAanthro/

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    What to take note of in the above is the gradient from extreme NW europe to the mediterranean, with the exception of outliers like the hungarian and slovakian, likely affected by the activities of the prehistoric Norse and Viking period, this haplotype is on a cline, with good nodality in Ireland. Historic patterns as well as the length and preservation of the entire haplotype in most europeans is STONGLY indicative of recent expansion from a single nodal source.
    Well, in one way or another, this is the view of Cavalli-Sforza's work. While I'm no geneticist, aside from the Basques, it appears that all the current genetic data in Europe points to a slow expansion from southeast to northwest, along rivers, and then slowly pushing the indigenous people out or breeding them in.

    If you're referring to the Indo-European expansion, wouldn't that be somewhere in Ukraine?
    I refuse to submit
    To the god you say is kind
    I know what's right, and it is time
    It's time to fight, and free our minds

    -Amon Amarth - Thousand Years of Oppression

  3. #3
    Quote Originally Posted by EngelDesKrieges
    Well, in one way or another, this is the view of Cavalli-Sforza's work. While I'm no geneticist, aside from the Basques, it appears that all the current genetic data in Europe points to a slow expansion from southeast to northwest, along rivers, and then slowly pushing the indigenous people out or breeding them in.

    If you're referring to the Indo-European expansion, wouldn't that be somewhere in Ukraine?
    I dont adhere to the migrationist explanation of his work, but to the "frozen in time" concept.
    Basically it's genealogical information about assortative mating communities making an existence in a specific bio-habitat or life zone. A space often occupied by populations nearly continious since the Middle Paleaolitic, at least that's what I made up from correlating randomly maps of archaeological groups before and after the LMG with some genic diagrams. Populations happened to be more stationary than generally assumed. Hunter-gatherers are only nomadic insofar they follow the cycles of the wildlife, but they're cunning and apt masters of their dominion and thoroughly connected to it and shaped both mentally and bodily. The success of e.g. the later "Danubian" farmers is greatly overrated: acculturation by adopting a techno-complex of cultural innovations to augmentate provisions and lowering dependance to environmental factors was more likely to happen than in/outbreeding. In fact, in some cases whole communities of farmer villages in the Balkan and Anatolia were verging to complete extinction struck by plagues, whereas the Mesolithics were usually spared from these devastating ordeals thanks to living in less afflicted environments remote from the concentration areas of the Danubians.
    Contacts might have facilitated bonding, but the main decisive change was cultural. It's interesting to note that the Transdanubian Linear Pottery practicized a symbolism on its ware that reflects a northen, indiginous and mesolithic character, while other elements pointing to its SE European/East Mediterrenean origin in matters of livestock and housing are less intrusive.

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