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Deletionsformen bei α+-Thalassämie |
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Nr.: |
α-Globingen-Cluster-Deletion |
Größe [kb] |
Nachweis |
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A1.1D |
#00# α3.7# |
ca. 3.7 kb |
##02#NAA# |
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A1.2D |
α4.2 |
ca. 4.2 kb |
NAA |
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A1.3D |
α2.7 |
ca. 2.7 kb |
NAA |
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A1.4D |
α3.5 |
ca. 3.5 kb |
NAA |
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A1.5D |
(α)α5.3 |
5.248 kb |
NAA |
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A1.6D |
18+kb |
>18 kb |
S-Blot |
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Deletionsformen bei α0-Thalassämie (Strukturgendeletionen) |
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Nr.: |
α-Globingen-Cluster-Deletion |
Größe [kb] |
Nachweis |
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A2.1D |
- -MC |
>46 kb |
S-Blot |
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A2.2D |
- -CAL |
ca. 32 kb |
S-Blot |
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A2.3D |
- -UO |
ca. 40-50 kb |
S-Blot |
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A2.4D |
- -DUTCH I |
ca. 33 kb |
S-Blot |
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A2.5D |
- -THAI |
33.45 kb |
NAA |
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A2.6D |
- -MED I |
ca. 17.5 kb |
NAA |
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A2.7D |
- -FIL |
ca. 30-34 kb |
NAA |
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A2.8D |
- -RT |
ca. 36.5-40 |
S-Blot |
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A2.9D |
- -BRIT |
ca. 26 kb |
S-Blot |
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A2.10D |
- -YEM |
>39 kb |
S-Blot |
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A2.11D |
- -(α)20.5 |
ca. 20.5 kb |
NAA |
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A2.12D |
- -MA |
ca. 22 kb |
S-Blot |
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A2.13D |
- -CI |
>27 kb |
S-Blot |
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A2.14D |
- -SA |
22.8-23.7 kb |
S-Blot |
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A2.15D |
- -MED II |
26.5 kb |
S-Blot |
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A2.16D |
- -SEA |
ca. 20 kb |
NAA |
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A2.17D |
- -CANT |
ca. 14-15.4 kb |
S-Blot |
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A2.18D |
- -SPAN |
ca. 10.5-12 kb |
S-Blot |
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A2.19D |
- -GEO |
ca. 8.5 kb |
S-Blot |
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A2.20D |
- -(α)5.2 |
5.2 kb |
NAA |
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A2.21D |
- -(80kb) |
ca. 80 kb |
S-Blot |
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A2.22D |
- -(115kb) |
>115 kb |
S-Blot |
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A2.23D |
- -JT |
ca. 250 kb |
S-Blot |
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A2.24D |
- -DUTCH II |
>150 kb |
S-Blot |
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A2.25D |
- -VR |
200-300 kb |
S-Blot |
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A2.26D |
- -JY |
150-250 kb |
S-Blot |
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A2.27D |
- -HW |
>100 kb |
S-Blot |
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A2.28D |
- -BR |
ca. 200 kb |
S-Blot |
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A2.29D |
- -LCU |
ca. 150-250 kb |
S-Blot |
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A2.30D |
- -CL |
>40 kb |
S-Blot |
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α-Thalassämie durch Deletionen der α-Globin-Regulator Elemente (HS 40) |
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Nr.: |
α-Globingen-Cluster-Deletion |
Größe [kb] |
Nachweis |
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A3.1D |
(αα)RA |
62 kb |
S-Blot |
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A3.2D |
(αα)MCK |
ca. 35-45 kb |
S-Blot |
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A3.3D |
(αα)SN |
ca. >80 kb |
S-Blot |
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A3.4D |
(αα)CMO |
ca. 160 kb |
NAA |
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A3.5D |
(αα)FL oder IdF |
ca. 160 kb |
NAA |
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A3.6D |
(αα)TAT |
ca. 150 kb |
NAA |
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A3.7D |
(αα)MB |
>100 kb |
S-Blot |
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A3.8D |
(αα)MM oder AMB |
>100 kb |
S-Blot |
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A3.9D |
(αα)AS |
>100 kb |
S-Blot |
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A3.10D |
(αα)IC |
ca. 130 kb |
NAA |
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A3.11D |
(αα)Ti |
ca. 120 kb |
NAA |
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A3.12D |
(αα)IJ |
ca. 35 kb |
S-Blot |
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A3.13D |
(--)BO |
16 p |
S-Blot |
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α-Thalassämie durch Deletion stromabwärts des α-Globingen-Clusters |
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Nr.: |
α-Globingen-Cluster-Deletion |
Größe [kb] |
Nachweis |
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A4.1D |
α-ZF |
>18 kb |
S-Blot |
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| © MVZ Labor Prof. Seelig GbR, Karlsruhe |