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Upstream promoter mutation associated with a modest elevation of fetal hemoglobin expression in human adults
| Content Provider | Scilit |
|---|---|
| Author | Gilman, Jg Mishima, N. Wen, Xj Kutlar, F. Huisman, Th |
| Copyright Year | 1988 |
| Description | In hereditary persistence of fetal hemoglobin, Hb F (alpha 2 gamma 2) is elevated after birth. Screening of sickle cell patients has revealed a family with elevated Hb F and high A gamma values. The propositus was a sickle cell patient with approximately 25% Hb F and 68.4% A gamma. He was heterozygous for the Benin (#19) and Mor beta S haplotypes. Five AS relatives with the Mor haplotype had 2.5% +/- 0.9% fetal hemoglobin and 92.8% +/- 2.8% A gamma, whereas two with the Benin haplotype had normal fetal hemoglobin (0.5%). The Mor haplotype is thus associated with the elevated Hb F in this family. The 13-kilobase (kb) Bg/II fragment containing the G gamma and A gamma genes of the Mor haplotype was cloned, and the G gamma and A gamma promoters sequenced from -383 to beyond the Cap sites. The Mor G gamma gene was normal, but the A gamma gene had a unique C----T mutation at -202. A different mutation at -202 of G gamma (C----G) was previously detected by other researchers in association with considerably higher Hb F in AS cases (15% to 25%). These data suggest either that -202 mutations affect the G gamma and A gamma promoters differently or that different nucleotide substitutions at -202 have divergent effects. Alternatively, additional unknown mutations could cause the differences in gene expression. |
| Related Links | https://ashpublications.org/blood/article-pdf/72/1/78/599625/78.pdf |
| Ending Page | 81 |
| Page Count | 4 |
| Starting Page | 78 |
| DOI | 10.1182/blood.v72.1.78.78 |
| Journal | Blood |
| Issue Number | 1 |
| Volume Number | 72 |
| Language | English |
| Publisher | American Society of Hematology |
| Publisher Date | 1988-07-01 |
| Access Restriction | Open |
| Subject Keyword | Medical Laboratory Technology Gene Expression Adults Benin Fetal Hemoglobin Sickle Gamma Gene Mor Haplotype Journal: Blood (Vol- 4, Issue- 1) |
| Content Type | Text |
| Resource Type | Article |
