βs Haplotypes in various world populations

Cihan Öner, Aleksandar J. Dimovski, Nancy F. Olivieri, Gino Schiliro, John F. Codrington, Sladdehine Fattoum, Adekunle D. Adekile, Reyhan Öner, Gunes T. Yüregir, C. Altay, A. Gurgey, Rashik B. Gupta, Vinod B. Jogessar, Michael N. Kitundu, Dimitris Loukopoulos, Gabriel P. Tamagnini, M. Leticia S. Ribeiro, Ferdane Kutlar, Li Hao Gu, Kenneth D. LanclosTitus H.J. Huisman

Research output: Contribution to journalArticlepeer-review

78 Scopus citations

Abstract

We have determined the βs haplotypes in 709 patients with sickle cell anemia, 30 with SC disease, 91 with S-β-thalassemia, and in 322 Hb S heterozygotes from different countries. The methodology concerned the detection of mutations in the promoter sequences of the Gγ- and Aγ-globin genes through dot blot analysis of amplified DNA with 32P-labeled probes, and an analysis of isolated Hb F by reversed phase high performance liquid chromatography to detect the presence of the AγT chain [Aγ75 (E19) Ile→Thr] that is characteristic for haplotype 17 (Cameroon). The results support previously published data obtained with conventional methodology that indicates that the βs 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 βs 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 βA chromosomes is also presented.

Original languageEnglish (US)
Pages (from-to)99-104
Number of pages6
JournalHuman Genetics
Volume89
Issue number1
DOIs
StatePublished - Apr 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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