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β-Thalassämie auslösende Mutationen im β-Globingen |
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Siehe auch: Deletionen im β-Globingen-Cluster |
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Mutation |
Ethnie |
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1. Promotor-Mutationen |
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ATA-Box |
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-28 (A=>G) |
+ |
Chinesen |
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-28 (A=>C) |
+ |
Kurden |
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-29 (A=>G) |
+ |
Afroamerikaner, Chinesen |
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-30 (T=>C) |
+ |
Chinesen |
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-30 (T=>A) |
+ |
Östliches Mittelmeer |
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-31 (A=>G) |
+ |
Japaner |
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-31 (A=>C) |
+ |
Italiener |
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-32 (C=>A) |
+ |
Taiwanesen |
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CACCC Box |
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-86 (C=>G) |
+ |
Libanesen, Thailänder |
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-86 (C=>A) |
+ |
Italiener |
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-87 (C=>G) |
+ |
Mittelmeerraum |
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-87 (C=>T) |
+ |
Deutsche, Italiener |
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-87 (C=>A) |
+ |
Jugoslawen, |
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-88 (C=>A) |
+ |
Kurden |
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-88 (C=>T) |
+ |
Afroamerikaner, Inder |
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-90 (C=>T) |
+ |
Portugiesen, Ashkenazi-Juden |
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-92 (C=>T) |
+ |
Italiener |
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-101 (C=>T) |
+ |
Italiener, östliches Mittelmeer |
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2. Cap Site-Mutationen |
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+1 (A=>C) |
+ |
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3. Startkodon-Mutationen |
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ATG=>AGG |
0 |
Koreaner, Chinesen, Nordeuropäer |
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ATG=>ACG |
0 |
Jugoslawen, Schweizer |
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ATG=>GTG |
0 |
Japaner |
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ATG=>ATT |
0 |
Iraner |
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ATG=>ATA |
0 |
Italiener, Schweden |
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ATG=>ATC |
0 |
Japaner |
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4. Polyadenylierungs- Mutationen |
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AATAAA=>AACAAA |
+ |
Afroamerikaner |
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AATAAA=>AATAAG |
+ |
Kurden |
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AATAAA=>AATAGA |
+ |
Malaysier |
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AATAAA=>AATGAA |
+ |
Mittelmeerraum |
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AATAAA=>A(-AATAA) |
+ |
Araber |
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AATAAA=>AAAA(-AT) |
+ |
Franzosen |
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5. Spleiß-Mutationen |
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IVS-1 Position 1 (G=>A) |
0 |
Mittelmeerraum |
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IVS-1 Position 1 (G=>T) |
0 |
Inder, Chinesen |
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IVS-2 Position 2 (T=>G) |
0 |
Tunesier |
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IVS-1 Position 2 (T=>C) |
0 |
Afroamerikaner, Algerier |
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IVS-1 Position 2 (T=>A) |
0 |
Algerier |
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IVS-1 5'-Ende (-44 bp) |
0 |
Mittelmeerraum |
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IVS-1 Position 130 (G=>A) |
0 |
Ägypter |
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IVS-1 Position 130 (G=>C) |
0 |
Italiener, Türken, Japaner |
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IVS-1 3'-Ende (-17 bp) |
0 |
Kuwait |
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IVS-1 3'-Ende (-25 bp) |
0 |
Inder |
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IVS-2 Position 1 (G=>A) |
0 |
Mittelmeerraum, Tunesier, Afroamerikaner, Japaner |
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IVS-2 Position 1 (G=>C) |
0 |
Iraner |
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IVS-2 Position 2,3 |
0 |
Iraner |
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IVS-2 Position 849 (A=>G) |
0 |
Afroamerikaner |
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IVS-2 Position 849 (A=>C) |
0 |
Afroamerikaner |
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IVS-2 Position 850 (G=>C) |
0 |
Jugoslawen |
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IVS-2 Position 850 (-G) |
0 |
Italiener |
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IVS-2 Position 850 (G=>A) |
0 |
Nordeuropäer |
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IVS-2 Position 850 (G=>T) |
0 |
Japaner |
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5. 2. Consensus-Sequenz |
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IVS-1 Position -3 (C=>T) |
+ |
Libanesen |
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IVS-1 Position -2 (A=>G) |
0 |
Sephardische Juden |
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IVS-1 Position -1 (G=>C) |
+ |
Tunesier, Afroamerikaner |
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IVS-1 Position -1 (G=>A) |
0 |
Bulgaren |
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IVS-1 Position 5 (G=>C) |
+ |
Inder,Chinesen, Melanesier |
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IVS-1 Position 5 (G=>T) |
+ |
Mittelmeerraum, Afroamerikaner |
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IVS-1 Position 5 (G=>A) |
+ |
Griechen, *Algerier |
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IVS-1 Position 6 (T=>C) |
+ |
Mittelmeerraum |
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IVS-1 Position 128 (T=>G) |
+ |
Saudi-Araber, Chinesen |
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IVS-2 Position 4,5 (-AG) |
0 |
Portugiesen |
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IVS-2 Position 5 (G=>C) |
+ |
Chinesen |
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IVS-2 Position 837 (T=>G) |
+ |
Inder |
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IVS-2 Position 843 (T=>G) |
+ |
Algerier |
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IVS-2 Position 844 (C=>G) |
+ |
Italiener |
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IVS-2 Position 848 (C=>A) |
+ |
Mittelmeerraum, Iraner, Ägypter, Afroamerikaner |
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IVS-2 Position 848 (C=>G) |
+ |
Japaner |
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5.3. Alternative Spleißstellen (Intron) |
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IVS-1 Position 110 (G=>A) |
+ |
Mittelmeerraum |
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IVS-1 Position 116 (T=>G) |
0 |
Mittelmeerraum |
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IVS-2 Position 654 (C=>T) |
+ |
Chinesen |
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IVS-2 Position 705 (T=>G) |
0 |
Mittelmeerraum |
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IVS-2 Position 745 (C=>G) |
+ |
Mittelmeerraum |
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5.4. Alternative Spleißstellen (Exon) |
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Codon 19 (A=>G) Hb Malay |
+ |
Malaysier |
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Codon 24 (T=>A) |
+ |
Japaner |
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Codon 26 (G=>A) Hb E |
+ |
Südost Asiaten |
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Codon 27 (G=>T) Hb Knossos |
+ |
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6. Mutationen mit funkionell inaktiver mRNA |
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Codon 15 (TGG=>TAG) |
0 |
Inder |
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Codon 15 (TGG=>TGA) |
0 |
Portugiesen |
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Codon 17 (A=>T) |
0 |
Chinesen |
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Codon 22 (G=>T) |
0 |
Isländer (Reunion) |
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Codon 26 (G=>T) |
0 |
Thailänder |
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Codon 35 (C=>A) |
0 |
Thailänder |
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Codon 37 (G=>A) |
0 |
Saudi-Araber |
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Codon 39 (C=>T) |
0 |
Mittelmeerraum, Europäer |
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Codon 43 (G=>T) |
0 |
Chinesen |
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Codon 61 (A=>T) |
0 |
Afroamerikaner |
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Codon 90 (G=>T) |
0 |
Japaner |
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Codon 112 (T=>A) |
0 |
Tschechoslowaken |
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Codon 121 (G=>T) |
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Polen, Schweizer, Briten, Japaner |
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Codon 127 (C=>T) |
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Engländer |
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6.2. Frameshift Mutationen |
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Codon 1 (-6) |
0 |
Mittelmeerraum |
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Codons 2/3/4 (-9 bp, +31 bp) |
0 |
Algerier |
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Codon 5 (-CT) |
0 |
Mittelmeerraum |
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Codon 6 (-A) |
0 |
Mittelmeerraum, Afroamerikaner |
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Codon 8 (-AA) |
0 |
Türken |
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Codons 8/9 (+G) |
0 |
Inder, Mittelmeerraum |
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Codons 9/10 (+T) |
0 |
Griechen |
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Codon 11 (-T) |
0 |
Mexikaner |
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Codon 14/15 (+G) |
0 |
Chinesen |
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Codon 15 (-T) |
0 |
Malaysier |
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Codon 16 (-C) |
0 |
Inder |
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Codons 20/21 (+G) |
0 |
Ashkenazi-Juden |
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Codons 22/23/24 (-AAGTTGG) |
0 |
Türken |
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Codon 24 (-G, +CAC) |
0 |
Ägypter |
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Codons 25/26 (+T) |
0 |
Tunesier |
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Codon 26 (+T) |
0 |
Japaner |
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Codons 27/28 (+C) |
0 |
Chinesen |
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Codon 28 (-C) |
0 |
Ägypter |
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Codons 28/29 (-G) |
0 |
Japaner, Ägypter |
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Codon 31 (-C) |
0 |
Chinesen |
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Codon 35 (-C) |
0 |
Malaysier |
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Codons 36/37 (-T) |
0 |
Kurden (Iraner) |
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Codons 37-39 (-GACCCAG) |
0 |
Türken |
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Codons 38/39 (-C) |
0 |
Tschechoslowaken |
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Codons 38/39 (-CC) |
0 |
Belgier |
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Codon 40 (-G) |
0 |
Japaner |
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Codons 40/41 (+T) |
0 |
Chinesen |
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Codon 41 (-C) |
0 |
Thailänder |
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Codons 41/42 (-TTCT) |
0 |
Inder, Chinesen |
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Codons 42/43 (+G) |
0 |
Japaner |
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Codons 42/43 (+T) |
0 |
Japaner |
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Codon 44 (-C) |
0 |
Kurden |
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Codon 45 (-T) |
0 |
Pakistaner |
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Codon 47 (+A) |
0 |
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Codons 47/48 (+ATCT) |
0 |
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Codon 51 (-C) |
0 |
Ungarn |
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Codons 53/54 (+G) |
0 |
Japaner |
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Codon 54 (-T) |
0 |
Algerier, Schweden |
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Codon 54/55 (+A) |
0 |
Inder |
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Codons 56 bis 60 |
0 |
Keine Information |
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Codons 57/58 (+C) |
0 |
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Codon 59 (-A) |
0 |
Italiener |
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Codon 64 (-G) |
0 |
Schweizer |
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Codon 67 (-TG) |
0 |
Philippinen |
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Codon 71 (+T) |
0 |
Chinesen |
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Codons 71/72 (+A) |
0 |
Chinesen |
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Codons 72/73 (-AGTGA, +T) |
0 |
Engländer |
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Codons 74/75 (-C) |
0 |
Türken |
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Codon 76 (-C) |
0 |
Italiener |
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Codons 82/83 (-G) |
0 |
Aserbaidschaner, Tschechoslowaken |
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Codons 84/85 (+C) |
0 |
Japaner |
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Codons 84/85/86 (+T) |
0 |
Japaner |
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Codon 88 (+T) |
0 |
Inder |
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Codons 89/90 (-GT) |
0 |
Koreaner |
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Codon 94 (+TG) |
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Italiener |
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Codon 95 (+A) |
0 |
Thailänder |
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Codon 100 (-CTT, +11 bp) |
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Südafrikaner |
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Codons 106/107 (+G) |
0 |
Afroamerikaner |
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Codon 109 (-G) |
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Codon 114 (-CT, +G) |
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Franzosen |
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Codons 120/121 (+A) |
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Philippinen |
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Codon 123 (-A) |
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Japaner |
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Codon 123-125 (-ACCCCACC) |
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Thailänder |
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Codon 124 (-A) |
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Russen |
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Codon125 (-A) |
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Japaner |
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Codon 126 (-T) |
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Italiener |
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Codons 126 bis 136 (-17 bp) |
0 |
Pakistaner, Inder |
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Codons 128/129 (-4,+5) und |
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Iren |
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Codons 131-132 (-GA) |
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Schweizer |
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7. Sonstige Mutationen |
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+10 (-T) |
+ |
Griechen |
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+22 (G=>A) |
+ |
Italiener |
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+33 (C=>G) |
+ |
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+43 (-AAAC) |
+ |
Chinesen |
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7.2 3' Untranslated Sequence |
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Cap site + 1480 (C=>G) |
+ |
Griechen |
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Cap site + 1565 bis 1577 |
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Türken |
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IVS-2 |
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+ |
Tschechoslowaken |
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8. Strukturvarianten mit β Thalassemia Phänotyp |
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Codon 28 (Leu=>Arg) |
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Engländer |
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Codon 32 (Leu=>Glu) |
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Codon 60 (Val=>Glu) |
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Italiener |
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Codon 106 (Leu=>Arg) |
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Nordeuropäer, Franzosen |
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Codon 110 (Leu=>Pro) |
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Japaner |
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Codon 114 (Leu=>Pro) |
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Russen, Iren, Italiener |
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Codon 115 (Ala=>Asp) |
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Tschechen |
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Codon 126 (Val=>Gly) |
+ |
Italiener, Thailänder, Deutsche |
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Codon 127 (Gln=>Pro) |
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Briten |
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Codon 127 (Gln=>Arg) |
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Franzosen |
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9. Deletion oder Insertion von Triplett Codons |
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Codons 24/25 (-GGT) |
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Keine Information |
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Codons 30/31 (+CGG) |
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Spanier |
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Codons 33/34 (-GTG) |
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Koreaner |
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Codons 33-35 (-6 bp) |
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Deutscher |
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Codons 108 bis 112 (-12 bp) |
0 |
Schweden |
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Codons 124 bis 126 (+CCA) |
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Armenier |
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Codons 127 bis 128 (-AGG) |
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Japaner |
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Codons 134 bis 137 (-12 bp, +6 bp) |
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β-Thalassämie auslösende Deletionen β-Globingen und Locus Kontrollregion |
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* |
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| © MVZ Labor Prof. Seelig GbR, Karlsruhe |