Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A survey of hemoglobinopathies which was carried out in the Takamatsu district during the period from January to August 1979 detected six families with abnormal hemoglobins. Approximately 6010 inhabitants were screened. Three of these families had the same new Hb variant (Hb Takamatsu beta 120 Lys leads to Gln) that has not been previously reported. Existence of a blood relationship among these three families could not be established even after careful family studies. This abnormal hemoglobin was not associated with adverse symptoms and gave normal hematologic findings in the carriers. The isopropranol test was negative, oxygen affinity was within the normal range, and biosynthetic ratio in reticulocytes was around 1.0. One of the difficulties in the structural analysis of this hemoglobin was related to complete superposition of abnormal beta XT-12b,13 on a beta T-8,9 peptide in the fingerprint of the trypsin digest of aminoethylated aberrant beta X chain. This was overcome by collection of abnormal tryptic beta core (beta XT-10-13) from unmodified beta X chain, and subsequent digestion by chymotrypsin. Edman analysis of the chymotryptic peptides thus obtained successfully confirmed the substitution to be beta 120 Lys leads to Gln.
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PMID:Hemoglobin takamatsu (beta 120 (GH 3) Lys leads to Gln): a new abnormal hemoglobin detected in three unrelated families in the takamatsu area of shikoku. 739 Aug 62

Human parvovirus B19 gene expression from the viral p6 promoter (B19p6) is restricted to primary human hematopoietic cells undergoing erythroid differentiation. We have demonstrated that expression from this promoter does not occur in established human erythroid cell lines in the context of a recombinant parvovirus genome (Ponnazhagan et al. J Virol 69:8096-8101, 1995). However, abundant expression from this promoter can be readily detected in primary human bone marrow cells (Wang et al. Proc Natl Acad Sci USA 92:12416-12420, 1995; Ponnazhagan et al. J Gen Virol 77:1111-1122, 1996). In the present studies, we investigated the pattern of expression from the B19p6 promoter in primary human bone marrow-derived CD34+ HPC undergoing differentiation into myeloid and erythroid lineages. CD34+ cells were transduced with recombinant adeno-associated virus 2 (AAV) vectors containing the beta-galactosidase (lacZ) gene under the control of the following promoters/enhancers: the cytomegalovirus promoter (vCMVp-lacZ), B19p6 promoter (vB19p6-lacZ), B19p6 promoter with an upstream erythroid cell-specific enhancer element (HS-2) from the locus control region (LCR) from the human beta-globin gene cluster (vHS2-B19p6-lacZ), and the human beta-globin gene promoter with the HS-2 enhancer (vHS2-beta p-lacZ). Transgene expression was evaluated either 48 h after infection or following erythroid differentiation in vitro for 3 weeks. Whereas high-level expression from the CMV promoter 48 h after infection diminished with time, low-level expression from the B19p6 and the beta-globin promoters increased significantly following erythroid differentiation. Furthermore, in HPC assays, there was no significant difference in the level of expression from the CMV promoter in myeloid or erythroid cell-derived colonies. Expression from the B19p6 and the beta-globin promoters, on the other hand, was restricted to erythroid cell colonies. These data further corroborate that the B19p6 promoter is erythroid cell-specific and suggest that the recombinant AAV-B19 hybrid vectors may prove useful in gene therapy of human hemoglobinopathies in general and sickle cell anemia and beta-thalassemia in particular.
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PMID:Adeno-associated virus 2-mediated transduction and erythroid lineage-restricted expression from parvovirus B19p6 promoter in primary human hematopoietic progenitor cells. 1064 62