RFLP Haplotypes of beta-Globin Gene Complex of beta-Thalassemic Chromosomes in Koreans

Abstract

Korea is in the low-prevalence area of -thalassemia and the Korean population has relatively homogenous racial characteristics. Recently, we identified some causative mutations of the Korean -thalassemia patients. In order to elucidate the genetic background of -thalassemia alleles in Koreans, we determined the restriction fragment length polymorphism (RFLP)-haplotype and framework (FW) in nine -thalassemia chromosomes of five different causative mutations by PCR-based method and family linkage study. The result that the haplotype and the framework linked to the initiation codon ATG→AGG mutation were -+-++-+ and FW3A, respectively, in all of three families in this study suggests a common origin of this mutation at least in Koreans. A novel -thalassemia mutation, codons 89/90 -TG, showed discrepancy between -++-++-and FW1, which could be explained by gene conversion. A case of codons 8/9 +G frameshift mutation had +----++ and FW1. The linkage of the two -thalassemia mutations, codon 17 AAG→TAG and codons 41/42 -TTCT, with specific haplotypes and frameworks common to the Koreans and the neighboring countries suggests that those mutations are influenced by the genetic flow from the south China.

Gene frequency and haplotype distribution of hemoglobin E among seven minority groups of Yunnan, China

“…The genotypes of HbA and HbE were randomly validated by PCR amplification followed by Sanger DNA sequencing of the b-globin gene. Seven polymorphic restriction sites in the b-globin gene cluster (HincII 5' to e, HindIII in G g and Ag, HincII 5 0 in Wb and 3 0 to Wb, AvaII in IVS2 of b, and Hinf I 3 0 to b) were used to define haplotypes and gene frameworks by respective PCR-RFLP protocols as previously described (Lee et al, 2002;Varawalla et al, 1992). Genomic DNA samples from HbE heterozygotes and homozygotes, and randomly selected representative HbAA individuals of each minority group, were screened for each restriction polymorphic site.…”

Hereditary Hemolytic Anemia in Korea: a Retrospective Study from 1997 to 2006

“…Yeungnam University, 2 The Catholic University of Korea, 3 Kyungpook National University, 4 Gyeongsang National University, 5 Korea University, 6 Keimyung University, 7 Daegu Catholic University, 8 Pusan National University, 9 Seoul National University,…”

Diversity of sickle cell trait in Jharkhand state in India: Is it the zone of contact between two geographically and ethnically distinct populations in India?

“…Following restriction sites were used for haplotyping: 5′ε-globin (5′ε-HincII), the HindIII sites at the intervening sequence (II) of the Gγ-Aγ globin (Gγ & Aγ IVSII-HindIII), the HincII sites in ψβ-globin (5′ψβ-HincII), and 3′ of ψβ-globin (3′ψβ-HincII), the AvaII site in β-globin gene (β-AvaII) and the BamH1 site in 3′β-globin (3′β-BamH1) (figure 2). The region was amplified using the primers already published (Lee et al 2002;Fabry and Old 2009) and the product was subjected to the restriction digestion as per the manufacture's protocol. Haplotype construction and analysis was done using Alrequin software (v3.1).…”