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Hemoglobin K�ln: Analysis of linkage relationships between the mutant gene and polymorphic restriction sites in the ?-globin gene cluster

✍ Scribed by Horst, J. ;Oehme, R. ;Kleihauer, E. ;Kohne, E.

Publisher: Springer-Verlag
Year: 1984
Weight: 554 KB
Volume: 48
Category: Article
ISSN: 1432-0584
DOI: 10.1007/bf00319812

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✦ Synopsis

Nuclear DNA has been analyzed by means of restriction endonuclease mapping procedure to identify chromosomes that carry mutant Hb Köln beta-globin genes in a family with individuals heterozygous for this disease. Inherited DNA polymorphisms within the beta-globin gene cluster yielded a direct linkage of the Hb Köln mutation to haplotype constellations that are diagnostic for further offspring.

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Heterocellular hereditary persistence of

Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal γ-gene expression in association withβthalassemia and linkage relationship with theβ-globin gene cluster

✍ A. Giampaolo; F. Mavilio; N. M. Sposi; A. Carè; A. Massa; L. Cianetti; M. Petrin 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 663 KB

We report a study of four families of Italian origin in which heterocellular HPFH is inherited linked to beta thalassemia over two or three generations. The HPFH + beta thalassemia carriers showed thalassemic blood pictures and elevated HbF and F-cell number without increase in the HbF/F-cell conten