Sudanese (δβ)0-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion.

Hemoglobin 2015 8;39(5):368-70. Epub 2015 Jul 8.

a Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences , Hamilton , Ontario , Canada.

We report a case of δβ-thalassemia (δβ-thal) trait in an adult male originally from Sudan. Multiplex ligation-dependent probe amplification (MLPA) was used to localize the approximate boundaries of the deletion, followed by polymerase chain reaction (PCR) amplification and sequence analysis of the junction fragment to determine the precise deletion endpoints. The deletion spans 9594 bp, with the 5' deletion endpoint located 1560 bp upstream of the δ-globin gene and the 3' endpoint within the second intervening sequence (IVS-II) of the β-globin gene.

Download full-text PDF

Source
http://dx.doi.org/10.3109/03630269.2015.1057736DOI Listing
June 2016

Publication Analysis

Top Keywords

deletion
5
endpoint located
4
approximate boundaries
4
boundaries deletion
4
deletion endpoint
4
deletion polymerase
4
localize approximate
4
mlpa localize
4
deletion endpoints
4
multiplex ligation-dependent
4
ligation-dependent probe
4
probe amplification
4
located 1560 bp
4
amplification mlpa
4
polymerase chain
4
9594 bp deletion
4
junction fragment
4
deletion spans
4
fragment determine
4
endpoints deletion
4

Similar Publications