[DNA diagnosis of beta-thalassemia. Study of restriction fragment length polymorphisms in families with affected children].

Abstract

A kit of DNA-probes directed at the cluster of human beta-globulin genes was used to study the incidence rate of 7 polymorphic restriction sites in beta-thalassemia patients and normal donors in the Azerbaijan SSR. Informative polymorphic sites Hind III were detected in GJ and AJ fetal globin genes, Hinc II in psi beta and Hinc III in 3' area of psi beta gene and Ava II in beta-globine gene differing in the incidence rate in the patients and donors. An analysis of haplotypes with respect to informative sites was made in two Azerbaijan families with an affected child. It has been found that the analysis with respect to one informative site is sufficient for prenatal diagnosis of the status of the following children.

• Authors: G Ia Solov'ev, A V Luk'ianenko, A F Tagiev, T S Dadasheva, R Sh Rustamov
• Journal: Gematologiia i transfuziologiia (Gematol Transfuziol) Vol. 35 Issue 10 Pg. 3-6 (Oct 1990) ISSN: 0234-5730 [Print] Russia (Federation)
• Vernacular Title: DNK-diagnostika beta-talassemiĭ. Issledovanie PDRF v sem'iakh s porazhennym rebenkom.
• PMID: 1706673 (Publication Type: English Abstract, Journal Article)

Chemical References

• Beta-Globulins
• DNA Probes
• DNA

Topics

• Adult
• Azerbaijan
• Beta-Globulins (analysis, genetics)
• Child
• DNA (blood, genetics)
• DNA Probes
• Haploidy
• Humans
• Pedigree
• Polymorphism, Restriction Fragment Length
• Thalassemia (blood, diagnosis, genetics)