First analysis of the F508 deletion in cystic fibrosis patients from the GDR

Springer Science and Business Media LLC - Tập 85 - Trang 406-407 - 1990
K. Grade1, K. Will1, R. Szibor2, J. Gedschold2, R. Brückner2, I. Bauer3, K. Giermann3, H. Gorki3, J. Hein4, U. Brell5, C. Coutelle1
1Zentralinstitut für Molekularbiologie, Akademie der Wissenschaften der DDR, Berlin, German
2Abteilung Humangenetik, Medizinische Akademie Magdeburg, Magdeburg, German
3Institut für Biochemie, German
4Kinderklinik, WPU, Rostock, German
5III. Kinderklinik, Berlin-Buch, German

Tóm tắt

Cystic fibrosis (CF) patients (n = 157) from the GDR were analysed for the occurrence of the recently discovered 3bp deletion causing CF. About 50% of all investigated patients were homozygotes and about 30% heterozygotes for this deletion. Of the analysed CF chromosomes from these patients, 62% carry the deletion, which is in strong linkage disequilibrium with the KM19 restriction fragment length polymorphism allele 2 and the 1/2 XV2c/KM19 haplotype.