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Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level

✍ Scribed by J. Schnee; C. Aulehla-Scholz; A. Eigel; J. Horst

Publisher: Springer
Year: 1990
Tongue: English
Weight: 366 KB
Volume: 84
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00196236

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✦ Synopsis

Amplification of the beta-globin gene by the polymerase chain reaction (PCR) and direct sequencing were used for a fast and reliable identification of the beta-globin variant Hb D Los Angeles and revealed the predicted G----C substitution in codon 121. The same method showed the molecular defect in Hb Presbyterian to be a C----G substitution in codon 108; this eliminates a MaeII restriction site.

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