Heterogeneity of DNA fragments associated with the sickle-globin gene.

Abstract

A B S T R A C T

β-Globin gene haplotype in Hb SC disease

“…Based on haplotype analysis, the Pc gene appears to have had a single origin in West Africa, although the presence of a 3' HpaI site in several patients, including one of ours, has suggested to some the possibility of a second origin [ 16,17,20]. Nevertheless, since the HpaI site is in the middle of an extensive L1 repeat, there is a high probability of rearrangement.…”

Sickle Cell Disease and Renal Disease

“…The immediate application of this observation was in antenatal diagnosis (Kan and Dozy, 1978), but it was also of potential value as a genetic marker in anthropological studies. The 13.0 kb fragment was found to be linked to the c gene (Feldenzer et al, 1979).…”

A new polymorphism in the human beta-globin gene useful in antenatal diagnosis.

“…Polymorphisms of nucleic acid sequences within and adjacent to the f8-globin gene complex have recently afforded a new approach to the antenatal detection of f3-globin chain variants and /3-thalassemia (1T)1 (1)(2)(3)(4)(5). Kan and Dozy (1) initially reported a polymorphism in the DNA sequence for an Hpa I restriction endonuclease site 5 kilobases (kb) 3' to the f3-globin gene with the sickle mutation (#s).…”

“…Kan and Dozy (1) initially reported a polymorphism in the DNA sequence for an Hpa I restriction endonuclease site 5 kilobases (kb) 3' to the f3-globin gene with the sickle mutation (#s). A nucleotide change in the Hpa I site generates a 13.0-kb fragment in association with -70% of fts genes in blacks, whereas >90% of 3A genes are contained in a normal 7.6-kb fragment (1,2). When the linkage phase is known in a pedigree, the Hpa I polymorphism will allow antenatal diagnosis of sickle cell disease (SS) in -40-50% of couples at risk.…”