Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

BACKGROUND AND OBJECTIVES: a-globin cluster polymorphisms are obtained with specific restriction enzymes (Xba I, Eco RI, Sac I, Apa I, Bgl II, etc) that can also have implications for genetic analysis. DESIGN AND AND METHODS: We studied three unrelated patients; one from Argentina, one from Spain and one from Australia but of Polish origin. Genomic DNA was digested with several different restriction enzymes and probes, amplified and sequenced with an ABI Prism 310 sequencer. RESULTS: In the three patients an abnormal 26 kb band appeared when they were studied with restriction enzyme Bgl II and z probe. A fragment of 944 bp was amplified with primers that cover from -280 to +714 bp of the recognition sequence of Bgl II enzyme (AGATCT) localized 5' from pseudogene z1. After digestion of this PCR product with Bgl II, two fragments of 714 and 280 bp were produced in normal controls, whereas in patient #1 the PCR fragment was undigested and in patients 2 and 3 both undigested and digested fragments were observed. Sequencing of the PCR fragment showed that in all three patients it was the same polymorphism (G->A) at nucleotide 153171 of the 16 p sequence found in the Bgl II recognition site that changed to AAATCT. INTERPRETATION AND CONCLUSIONS: We describe a new polymorphism in the yz1 first exon Bgl II restriction site (G->A). The polymorphism is associated in cis with haplotype -a3.7. The fragment obtained by PCR enabled us to corroborate the presence of the polymorphism quickly without having to use complicated sequencing techniques.


Journal article



Publication Date





899 - 901


Adult, Base Sequence, Blotting, Southern, DNA Mutational Analysis, Deoxyribonucleases, Type II Site-Specific, Family Health, Female, Globins, Humans, Male, Molecular Sequence Data, Polymorphism, Genetic, alpha-Thalassemia