title: Molecular analysis of alpha/beta-thalassemia in a southern Chinese population.
abstract: Thalassemia is endemic to many regions in southern China. The screening of severe determinants of thalassemia is of critical importance in management and control of thalassemia. We designed a protocol based on microarray technology to screen for a spectrum of alpha/beta-globin gene mutations in the Chinese population. A total of 38 probes were capable of screening 98% of alpha/beta-globin gene mutations in the China population, including 16 mutations of beta-globin [beta(41-42)(-TCTT), IVSII-654(C-->T), beta17(A-->T), -28(A-->G), beta(71-72)(+A), beta(71-72)(+T), HbE26(G-->A), -29(A-->G), beta(27-28)(+C), IVSI-1(G-->T), IVSI-5(G-->C), beta(14-15)(+G), IVSII-5(G-->C), beta41(+T), 37(G-->A), and beta43(G-->T)] and five mutations of alpha/beta[three deletions of -alpha;(3.7), -alpha(4.2), and --(SEA); two nondeletions of alpha(Quong Sze) codon alpha125(T-->C) and alpha(Constant Spring) codon alpha142(T-->C)]. Multiplex PCR products were amplified from human genomic DNA and allowed to hybridize with the oligonucleotide array. alpha/beta-Globin genotypes were assigned by quantitative analysis of the hybridization results. The protocol, standardized by analysis of 100 thalassemia samples with known mutations and 13 recombinant plasmids, was 100% reliable in genotyping all mutant alleles. In subsequent screening of 2,030 Chinese with unknown mutations, the protocol was 100% accurate. This method provides unambiguous detection of complex combinations of heterozygous, compound heterozygous, and homozygous alpha/beta-thalassemia genotypes. The protocol was also flexible, detecting globin gene mutations from different population groups.
authors: State Key Laboratory of Bioreactor Engineering, Department of Food Science and Engineering, East China University of Science & Technology, Shanghai, China. bcye@ecust.edu.cn
authors: Bang-Ce
authors: BC
authors: Ye
authors: Zhuanfong
authors: Z
authors: Zhang
authors: Zhengsong
authors: Z
authors: Lei
mesh_terms: D001483:Base Sequence; D002681:China; D004247:DNA / Q000235:genetics; D017931:DNA Primers; D005828:Genetics, Population; D006801:Humans; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D017354:Point Mutation; D015203:Reproducibility of Results; D013789:Thalassemia / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004247:DNA