title: Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders.
abstract: Human cellular DNA fragments from cells of normal subjects and patients with thalassemia obtained by restriction enzyme digestion were analyzed for their globin gene content. The fragments were separated on agarose gels, transferred to nitrocellulose filters, hybridized to globin [(32)P]cDNA, and radioautographed. One to ten picograms of globin gene sequences were detectable. With EcoRI digestion, eight to nine cellular DNA fragments were found to contain globin genes. Three of these contained beta-like gene sequences assayed with beta globin cDNA probe. One beta-like fragment was absent in DNA from a homozygous subject for hemoglobin Lepore. Two of the three beta gene-containing fragments present in normal DNA were absent in DNA from a patient with hereditary persistence of fetal hemoglobin. The same two fragments containing beta-like genes were absent from deltabeta thalassemic DNA and one new fragment containing beta-like genes was found. Together with results obtained by hybridization of these DNAs in solution, the data are consistent with deletion of specific restriction human DNA fragments in subjects with these disorders and a greater deletion of beta-like gene sequences in subjects with hereditary persistence of fetal hemoglobin than in those with deltabeta thalassemia.
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005796:Genes; D005914:Globins / Q000235:genetics*; D006801:Humans; D009693:Nucleic Acid Hybridization; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes
references.citation: Cold Spring Harb Symp Quant Biol. 1964;29:309-19
references.pmid: 14280817
references.citation: Proc Natl Acad Sci U S A. 1962 Nov 15;48:1880-6
references.pmid: 13968954
references.citation: Cell. 1977 Oct;12(2):429-39
references.pmid: 912752
references.citation: Proc Natl Acad Sci U S A. 1978 Feb;75(2):725-9
references.pmid: 273235
references.citation: Cell. 1977 Dec;12(4):1097-108
references.pmid: 597859
references.citation: Nucleic Acids Res. 1977 Jul;4(7):2353-68
references.pmid: 909779
references.citation: J Biol Chem. 1977 Apr 10;252(7):2182-6
references.pmid: 849927
references.citation: Cell. 1976 Sep;9(1):71-80
references.pmid: 975241
references.citation: J Biol Chem. 1977 Jul 25;252(14):5040-53
references.pmid: 68958
references.citation: Cell. 1976 Oct;9(2):269-87
references.pmid: 184963
references.citation: J Mol Biol. 1977 Feb 15;110(1):119-46
references.pmid: 845942
references.citation: Nature. 1976 Oct 7;263(5577):471-5
references.pmid: 985635
references.citation: Proc Natl Acad Sci U S A. 1974 Oct;71(10):3966-70
references.pmid: 4530276
references.citation: J Biol Chem. 1974 Dec 10;249(23):7536-40
references.pmid: 4436324
references.citation: J Virol. 1973 Sep;12(3):594-9
references.pmid: 4355856
references.citation: Nature. 1974 Oct 4;251(5474):389-92
references.pmid: 4138824
references.citation: Proc Natl Acad Sci U S A. 1975 Apr;72(4):1550-4
references.pmid: 1055426
references.citation: Cell. 1976 Mar;7(3):323-9
references.pmid: 947544
references.citation: Proc Natl Acad Sci U S A. 1976 Jul;73(7):2191-5
references.pmid: 59925
references.citation: Proc Natl Acad Sci U S A. 1976 Apr;73(4):1102-6
references.pmid: 177975
references.citation: Nature. 1974 Oct 4;251(5474):392-3
references.pmid: 4424635
references.citation: Acta Haematol. 1970;43(2):100-10
references.pmid: 4986189
references.citation: Science. 1968 Aug 9;161(3841):529-40
references.pmid: 4874239
references.citation: Nature. 1976 Jan 15;259(5539):95-8
references.pmid: 1246358
references.citation: Nature. 1975 Nov 13;258(5531):162-3
references.pmid: 1186896
references.citation: J Mol Biol. 1975 Nov 5;98(3):503-17
references.pmid: 1195397