Open AccessStructure of cloned δ-globin genes from a normal subject and a patient with δ-thabssemia; sequence polymorphisms found in the δ-globin gene region of Japanese individuals
Author(s) -
Akinori Kimura,
Eiji Matsunaga,
Yoshikuni Ohta,
Toshinobu Fujiyoshi,
Toshikazu Matsuo,
Takanori Nakamura,
Takashi Imamura,
Toshiyuki Yanase,
Yasuyuki Takagi
Publication year - 1982
Publication title -
nucleic acids research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.008
H-Index - 537
eISSN - 1362-4954
pISSN - 0305-1048
DOI - 10.1093/nar/10.19.5725
Subject(s) - biology , genetics , gene , nucleic acid sequence , globin , gene duplication , microbiology and biotechnology , sequence (biology) , gene cluster , clone (java method) , sequence analysis , base pair , nucleotide
The delta-globin genes of a normal Japanese and a Japanese patient with homozygous delta-thalassemia were cloned, and the nucleotide sequence of a region including the gene was determined. Comparison of the nucleotide sequences of these two individuals with that of pH delta 1, delta-globin clone from the gene library constructed by Maniatis et al., showed differences in the large intervening sequence (IVS 2), at positions 137, 151, 186, 188, 291, 292 and 540 as one base substitutions, at 339 and 823 as one base additions, at 548 as a one base deletion, and a 9 bp duplication between positions 651 and 659, and differences in the 3'-flanking sequence at 51 and 98 nucleotides 3' to the AATAAA sequence. However, in the region studied, no differences was observed in the nucleotide sequences of the normal subject and the patient with delta-thalassemia. Therefore, these differences may represent polymorphisms of the delta-globin gene present in Japanese individuals. These data suggest that IVS 2 is more divergent than other regions, and that a DNA region(s) other than the globin gene may affect expression of the gene.