Abstract

The following studies are planned as a continuation of ongoing research activities. 1. Characterization of Beta-thalassemia among Chinese through haplotyping, RNA blot hybridization analysis, oligonucleotide hybridization, and in selected cases by cloning and sequence analysis. Special emphasis is to be placed on minority races in China. 2. Characterization of two forms of HPFH (AGamma(DeltaBeta)+ and GAGamma(DeltaBeta)+) and one form of GGamma-(DeltaBeta)-thal which were recently discovered in a few families. The analyses of the GAGamma=(DeltaBeta)+-HPFH is particularly important for our understanding of the Gamma yield Beta switch. 3. Numerous babies have been observed with variations in the relative quantities of the GGamma and AGamma chains of their Hb F. Some of thes are due to Gamma globin gene deletions. It is intended to restudy these babies using existing DNA methodology to evaluate possible morbidity of the Gamma-thalassemia. 4. The Alpha-thalassemias of mainly South Chinese families will be studied with established procedures. However, the non-deletion type of Alpha-thal-2, seen mainly in one region, will be studied by oligonucleotide hybridization and by gene mapping to evaluate the possible presence of the unstable Hb Quong Sze which causes Alpha chain deficiency. 5. Prenatal diagnosis for the deletion types of Alpha-thalassemia will continue using methods developed in our laboratory, while that for Beta-thalassemia will be initiated based on haplotyping methodology, oligonucleotide hybridization, and, if possible, gene mapping. 6. Analyses of abnormal hemoglobins will continue but will be limited mainly to pathological variants.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
Research Project (R01)
Project #
5R01HL029623-08
Application #
3340755
Study Section
Hematology Subcommittee 2 (HEM)
Project Start
1983-07-01
Project End
1992-09-29
Budget Start
1990-09-30
Budget End
1991-09-29
Support Year
8
Fiscal Year
1990
Total Cost
Indirect Cost

  Institution

Name
Shanghai Children's Hospital
Department
Type
DUNS #
City
Shanghai
State
Country
China
Zip Code

  Publications

Zeng, Y T; Huang, S Z; Ren, Z R et al. (1995) Hydroxyurea therapy in beta-thalassaemia intermedia: improvement in haematological parameters due to enhanced beta-globin synthesis. Br J Haematol 90:557-63
Huang, S Z; Zeng, F Y; Ren, Z R et al. (1994) RNA transcripts of the beta-thalassaemia allele IVS-2-654 C-->T: a small amount of normally processed beta-globin mRNA is still produced from the mutant gene. Br J Haematol 88:541-6
Huang, S Z; Ren, Z R; Chen, M J et al. (1994) Treatment of beta-thalassemia with hydroxyurea (HU)--effects of HU on globin gene expression. Sci China B 37:1350-9
Huang, S Z; Ren, Z R; Zeng, Y T et al. (1992) Study of the RNA splicing defect in the common Chinese beta-thalassemia gene, IVS-II nt. 654 C-->T by using mRNA/PCR. Sci China B 35:1232-7
Huang, S Z; Rodgers, G P; Zeng, F Y et al. (1991) Diagnosis of thalassemia using cDNA amplification of circulating erythroid cell mRNA with the polymerase chain reaction. Blood 78:2433-7
Huang, S Z; Xu, Y H; Zeng, F Y et al. (1991) A novel beta-thalassaemia mutation: deletion of 4 bp (-AAAC) in the 5' transcriptional sequence. Br J Haematol 78:125-6
Plaseska, D; Wilson, J B; Gu, L H et al. (1990) Hb Zengcheng or alpha 2 beta(2)114(G16)Leu----Met. Hemoglobin 14:555-7
Huang, S Z; Zhou, X D; Zhu, H et al. (1990) Detection of beta-thalassemia mutations in the Chinese using amplified DNA from dried blood specimens. Hum Genet 84:129-31
Zeng, Y T; Huang, S Z; Ren, Z R et al. (1989) Identification of Hb D-Punjab gene: application of DNA amplification in the study of abnormal hemoglobins. Am J Hum Genet 44:886-9
Han, I S; Huang, H J; Zeng, Y T et al. (1989) Identical nucleotide sequences of the 3'A gamma globin gene enhancer elements from four different chromosomes. Blood 73:845-8

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