title: Identification of the linkage of a 1.357 KB beta-globin gene deletion and A gamma-globin gene triplication in a Chinese family.
abstract: The 1.357 kb beta-globin gene deletion was identified in a Chinese family by multiplex ligation-dependent probe amplification (MLPA) followed by gap-polymerase chain reaction (gap-PCR) and sequencing. Interestingly, this form of the deletion was linked to a -(G)gamma-(AG)gamma-(A)gamma triplication. The proband, a compound heterozygote for this linked mutant gene and a beta-globin gene [-28 (A>G)] mutation, had a phenotype of beta-thalassemia intermedia (beta-TI). She was not transfusion dependent and had the following parameters: a Hb level of 5.3 g/dL, 72.8% Hb F and 55.1% (G)gamma chain in Hb F. Four members of the family, who were carriers of this linked mutant gene, had a hematological phenotype of beta(0)-thalassemia (beta(0)-thal) with high Hb F and low (G)gamma chain values. RNA analyses showed decreased levels of beta-globin mRNA and increased levels of gamma-globin mRNA in heterozygotes. Haplotype analyses indicated that the unusual form of the beta-globin gene deletion and gamma-globin gene triplication in cis were linked to halotype [+ - - - - - -].
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province, People's Republic of China.
authors.forename: Ji-wu
authors.initials: JW
authors.lastname: Lou
authors.forename: Qian
authors.initials: Q
authors.lastname: Li
authors.forename: Xiao-feng
authors.initials: XF
authors.lastname: Wei
authors.forename: Ji-wei
authors.initials: JW
authors.lastname: Huang
authors.forename: Xiang-min
authors.initials: XM
authors.lastname: Xu
mesh_terms: D001483:Base Sequence; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D012689:Sequence Homology, Nucleic Acid; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics; D055545:gamma-Globins / Q000235:genetics*
chemical_list: D055544:beta-Globins; D055545:gamma-Globins