| COMMENTS |
Alpha-globin is an essential component of the hemoglobin tetramer, starting from
se gel electrophoresis of the amplification products.
the early stages of embryonic development. Deletion mutations involving one or
both of the two alpha-globin genes (alpha1 and alpha2, located on chromosome 16
p13) lead to reduced production of alpha-globin chains, and are the major cause
of alpha-thalassemia. Severity of the disease is dependent on the total copy nu
mber of functional alpha-globin genes remaining. This assay detects the seven m
ost common deletions (-alpha3.7, -alpha4.2, -alpha20.5, --SEA, --MED, -FIL, and
--THAI) found in patients with alpha-thalassemia. This assay is performed by all
ele-specific PCR amplification of deletion mutation fragments, followed by agaro
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