Skip Navigation

This Article
Right arrow Print PDF (1472K)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Commercial Re-use Guidelines
for Open Access NAR Content
Google Scholar
Right arrow Articles by Fortina, P.
Right arrow Articles by Surrey, S.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Fortina, P.
Right arrow Articles by Surrey, S.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Nucleic Acids Research, 1988, Vol. 16, No. 23 11223-11235
© 1988

MOLECULAR BIOLOGY

A large deletion encompassing the entire {alpha}-like globin gene cluster in a family of Northern European extraction

Paolo Fortina, Kathleen Delgrosso, Eric Rappaport, Mortimer Poncz, Samir K. Ballas1, Elias Schwartz and Saul Surrey*

Division of Hematology, The Children's Hospital of Philadelphia, Departments of Pediatrics and Human Genetics, University of Pennsylvania School of Medicine Philadelphia, PA 19104, USA 1Cardeza Foundation for Hematologic Research, Department of Medicine, Thomas Jefferson University Philadelphia, PA 19107, USA

*To whom correspondence should be addressed

Received July 1, 1988. Revised October 26, 1988. Accepted October 26, 1988.

We describe a new deletional form of {alpha} thalassemia segregating in three generations of a family of northern European origin. A full-term female girl had hypochromic, mlcrocytic anemia since early Infancy associated with delayed language development, slow growth and weight gain. Hematologic studies suggested the presence of {alpha} thalassemia. Gene-blotting studies showed no abnormal {alpha}-like globin gene fragments; however, studies of inheritance of informative polymorphic restriction fragments using {zeta}, {alpha} and 3'-{alpha}-hypervariable region (3'-HVR) probes showed evidence for an extensive deletion encompassing the entire {alpha}-like globin gene cluster. The 3' breakpoint of this deletion maps beyond the 3'-HVR, a region implicated as a hot spot for the generation of other large deletional events within the {alpha}-like cluster. The 5' breakpoint maps at least 10 kilobases (kb) 5' to the {zeta}-globin gene. The minimum size estimate for this deletion is greater than 47 kilobases.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.