Restriction endonuclease gene mapping studies of an Indian (A gamma delta beta)zero-thalassaemia, previously identified as G gamma-HPFH.
Restriction endonuclease mapping data are presented for the DNA of a young Indian homozygous patient (and his heterozygous parents) who were identified 10 years ago as having a G gamma-hereditary persistence of fetal haemoglobin (Sukumaran et al, 1972). However, the present results indicate a genetic lesion in these persons which is similar to that observed in another Indian with (A gamma delta beta)0-thalassaemia homozygosity (Amin et al, 1979) and is characterized by two relatively short deletions and an inversion involving the A gamma, delta and beta globin genes (Jones et al, 1981a). Some additional blot hybridization studies have provided further data confirming the deletion-inversion hypothesis.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D004247:DNA; D004262:DNA Restriction Enzymes; D005319:Fetal Hemoglobin / Q000235:genetics; D006454:Hemoglobins / Q000032:analysis; D006720:Homozygote; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D013789:Thalassemia / Q000235:genetics*
D006454:Hemoglobins; D004247:DNA; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes