A novel rearrangement of the human fetal globin genes leading to a six gamma-globin gene haplotype.
Haematological as well as gene mapping data are reported for three members of a Portuguese Caucasian family with high G(gamma)-globin levels. A gamma-globin gene sextuplication of the G(gamma)AG(gamma)AG(gamma)AG(gamma)AG(gamma)A(gamma) type was present in the proband and her father. Comparison of gene mapping data with quantitative results of fetal haemoglobin (HbF) analysis provided an explanation for the extremely high G(gamma)-globin levels (> 90%) in the HbF from the two mentioned individuals. This rearrangement, for which a generation mechanism is proposed, is the first gamma-globin gene sextuplication described in the literature.
Gonçalves
Isabel
I
Laboratório de Genética Molecular, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Caparica, Portugal.
Lavinha
João
J
Ducrocq
Rolande
R
Osório-Almeida
Leonor
L
D000328:Adult; D002874:Chromosome Mapping; D005260:Female; D005326:Fetal Proteins / Q000235:genetics*; D015321:Gene Rearrangement; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D008297:Male; D011174:Portugal
D005326:Fetal Proteins; D005914:Globins