Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ninety-five of non-differential diagnostic patients were detected by dot-blot analysis on enzymatically amplified DNA with a number of allele specific oligonucleotide probes complementary to the most common mutations in Chengdu population. Prenatal diagnosis was accomplished by the same procedure on enzymatically amplified amniocyte DNA. The result revealed fifty-eight cases of beta-thalassemia. Of the 73 chromosomes tested, twenty-eight (38.4%) had the codon 17(A-->T) mutation, twenty-one (28.8%) had the codon 41-42(-TTCT) mutation, fourteen (19.0%) had the IVS-I-654(C-->T) mutation; nt--28(A-->G) and nt--29(A-->G) mutations were six (8.2%) and four (5.5%) respectively.
Hua Xi Yi Ke Da Xue Xue Bao 1995 Dec
PMID:[Analysis of beta-thalassemia mutations and prenated diagnosis in Chengdu population]. 873 52

We describe in this paper a simple and efficient procedure for preparing peripheral blood DNA without pre-isolation of white blood cells. The method also avoids the hazard of organic solvent extraction. Routinely it yields 20 to 28 micrograms of chromosomal DNA from per ml whole blood. The A260/A280 ratio for DNA sample is 1.80 to 1.85. The undigested DNAs migrate above the 21 kb pair, while the endonucleasedigested samples appear characteristically in the smear form. These data illustrate the consistency and quality of the chromosomal DNA isolated using this procedure. The DNA prepared by this method was used for analysis of beta-thalassemia mutation and prenatal diagnosis in our laboratory.
Hua Xi Yi Ke Da Xue Xue Bao 1997 Dec
PMID:[Preparation of chromosomal DNA from whole blood without use of phenol]. 1068 67

Murine erythroleukemia (MEL) cell line was used as a model to evaluate the potential value of retroviral construct containing human beta-globin express io n cassette in gene therapy of beta-thalassemia and to explore possible mechanisms underlying low expression of retrovirally cloned human beta-globin gene. A recombinant retroviral vector was constructed, which harbored 2.0 kb beta-globin gene w it h a 374 bp deletion in intervening sequence II coupled with a mini locus control region (miniLCR) composed of DNaseI hypersensitive sites (HS) 2 and 3 from human beta-LCR. The recombinant retroviruses were generated from an established psi-2 producer cell line, and by transient transfection of amphotropic packaging cell l ine psi-A, respectively. The integrity of provirus in transduced MEL cells was determined using Southern blot, and the expression of transferred human beta-globin gene was detected using RNase protection assay. The structure of provirus was further analyzed by sequence analysis of PCR products from genomic DNA of MEL individual clone as template. The results demonstrated that the average expression of human beta-globin gene was (52.4-/+11.2)% (n=12) and (73.8-/+14.3)% (n=12, without copy-number determination), compared with that of endogenous murine alpha-globin ge ne, in MEL cells transduced with the recombinant retrovirus from transient transfection of psi-A and MEL cells transfected with the construct, respectively. In M EL cells transduced with virus from psi-2 producer cell line, however, the average expression was less than 3%. A point mutation was detected in HS2 of provirus i n MEL cell clone with low expression of human beta-globin gene. The possible mechanisms involved in low expression, including position effect, DNA methylation a nd RNA interference are discussed in addition to the point mutation.
Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai) 2002 Nov
PMID:[The possible mechanisms underlying low expression of human beta-globin gene cloned in a retroviral vector]. 1241 21