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Molecular characterization of a novel form of (A gamma delta beta)zero thalassemia deletion in a Chinese family
| Content Provider | Scilit |
|---|---|
| Author | Zhang, Jw Song, Wf Zhao, Yj Wu, Gy Qiu, Zm Wang, Fn Chen, Ss Stamatoyannopoulos, G. |
| Copyright Year | 1993 |
| Description | We have identified and molecularly characterized a novel deletion in the beta-globin gene cluster that is associated with elevated fetal hemoglobin in the adult. The propositus is a homozygote from the Yunnan province of China. The deletion spans about 90 kb of DNA and removes the A gamma, delta, and beta-globin genes. The 5' breakpoint of the deletion is located about 0.13 kb upstream from the A gamma-globin gene, whereas the 3' breakpoint is located about 66 kb downstream from the beta-globin gene, about 13 kb upstream from the breakpoint of the Chinese (A gamma delta beta)zero-thalassemia. Heterozygotes for this Yunnanese form of (A gamma delta beta)zero-thalassemia express between 9% and 17% of fetal hemoglobin, whereas the homozygote present with a mild anemia (Hb = 10.7 g/dl). Comparison of the sites of 3' breakpoints of the Yunnanese and the Chinese (A gamma delta beta)zero-thalassemia mutants is compatible with the hypothesis that an enhancer element is located between the 3' breakpoints of these two mutants. Juxta-position to the G gamma gene of this element may be responsible for the efficient gamma-gene expression in the Yunnanese mutant. |
| Related Links | https://ashpublications.org/blood/article-pdf/81/6/1624/610032/1624.pdf |
| Ending Page | 1629 |
| Page Count | 6 |
| Starting Page | 1624 |
| DOI | 10.1182/blood.v81.6.1624.1624 |
| Journal | Blood |
| Issue Number | 6 |
| Volume Number | 81 |
| Language | English |
| Publisher | American Society of Hematology |
| Publisher Date | 1993-03-15 |
| Access Restriction | Open |
| Subject Keyword | Medical Laboratory Technology Gene Expression Deletion Gamma Delta Beta Zero Thalassemia Journal: Blood (Vol- 89, Issue- 6) |
| Content Type | Text |
| Resource Type | Article |
