A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the beta-globin cluster.
The pattern of inheritance of several polymorphic restriction sites associated with the beta-gene cluster, and spanning a region of 52kb, demonstrates that a determinant for hereditary persistence of fetal hemoglobin (HPFH) segregates independently from the non-alpha globin gene cluster, as we postulated several years ago on purely genetical grounds. This finding provides additional evidence for the existence of diffusible factors affecting gamma-chain expression. Moreover, we have identified a "private" HincII polymorphism, in the vicinity of the epsilon gene in the family studied.
Martinez
G
G
Instituto de Hematologia e Inmunologia, La Habana, Cuba.
Novelletto
A
A
Di Rienzo
A
A
Felicetti
L
L
Colombo
B
B
D004262:DNA Restriction Enzymes; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D008040:Genetic Linkage; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006801:Humans; D008297:Male; D005810:Multigene Family; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D005914:Globins; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes