Akademik Veri Yönetim Sistemi
HUMAN GENETICS, cilt.89, sa.1, ss.99-104, 1992 (SCI-Expanded)
We have determined the beta(S) haplotypes in 709 patients with sickle cell anemia, 30 with SC disease, 91 with S-beta-thalassemia, and in 322 Hb S heterozygotes from different countries. The methodology concerned the detection of mutations in the promoter sequences of the (G)gamma- and (A)gamma-globin genes through dot blot analysis of amplified DNA with P-32-labeled probes, and an analysis of isolated Hb F by reversed phase high performance liquid chromatography to detect the presence of the (A)gamma(T) chain [(A)gamma-75 (E19) Ile --> Thr] that is characteristic for haplotype 17 (Cameroon). The results support previously published data obtained with conventional methodology that indicates that the beta(S) gene arose separately in different locations. The present methodology has the advantage of being relatively inexpensive and fast, allowing the collection of a vast body of data in a short period of time. It also offers the opportunity of identifying unusual beta(S) haplotypes that may be associated with a milder expression of the disease. The numerous blood samples obtained from many SS patients living in different countries made it possible to compare their hematological data. Such information is included (as average values) for 395 SS patients with haplotype 19/19, for 2 with haplotype 17/17, for 50 with haplotype 20/20, for 2 with haplotype 3/3, and for 37 with haplotype 31/31. Some information on haplotype characteristics of normal beta(A) chromosomes is also presented.