title: [A study of the variation of the (AT)xTy motif-530bp 5' to the beta-globin gene in the Chinese population].
abstract: The repeated purine-pyrimidine motif (AT)xTy at the region -530bp 5' to the beta-globin gene is regarded as the binding site for BP1, a transcriptionally repressive nuclear protein. In present study, the rearrangement patterns of the -530 motif in the Chinese population, including 43 patients with various hemoglobinopathies and part of their relatives (34), as well as 20 hematologically normal individuals, were investigated with the method of ds-DNA cycle sequencing. The results showed that the -530 motif in Chinese people had three major variation types-(AT)8T5, (AT)7T7 and (AT)9T5. Besides, a novel rearrangement type, (AT)10T3, was found in a hematologically normal family. Furthermore, the analysis of haplotype between the beta-globin structural loci and the -530 motif rearrangement indicated that linkage disequilibrium existed between three mutant beta-globin genes (i.e., IVS-II-654(C-->T), CD41-42(-4bp) and HbE), and three -530 motif rearrangement types (i.e., (AT)8T5, (AT)7T7 and (AT)9T5)7 respectively.
authors.affiliation: Shanghai Institute of Medical Genetics, Shanghai Children's Hospital.
authors.forename: G
authors.initials: G
authors.lastname: Zhou
authors.forename: F
authors.initials: F
authors.lastname: Zeng
authors.forename: M
authors.initials: M
authors.lastname: Chen
authors.forename: Z
authors.initials: Z
authors.lastname: Ren
authors.forename: S
authors.initials: S
authors.lastname: Huang
authors.forename: Y
authors.initials: Y
authors.lastname: Zeng
mesh_terms: D044466:Asian People; D002681:China; D015321:Gene Rearrangement; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans
chemical_list: D005914:Globins