title: Identification of Hb D-Punjab gene: application of DNA amplification in the study of abnormal hemoglobins.
abstract: Hemoglobin D-Punjab (or D-Los Angeles) is a common variant worldwide. It is also the most frequent abnormal hemoglobin in Xinjiang Uygur Autonomous Region of China. A large survey of hemoglobinopathy, including 142,171 people and 21 national/ethnic groups, was carried out in Xinjiang and indicated Hb D-Punjab accounted for 55.6% of the total hemoglobin variants there. Here we describe a simple way--EcoRI mapping of the amplified beta-globin DNA sampling from dried blood spots on filter paper blotters--of identifying the Hb D-Punjab gene. The primers were designed and synthesized to emzymatically amplify a 144-bp fragment of beta-globin gene which included codons beta 121 (GAA) and 122 (TTC) representing an EcoRI recognition site. The Hb D-Punjab gene could be easily detected by EcoRI digestion of the amplified DNA sequence on agarose gel because of a single base change at codon 121. The analysis of amplified DNA sampling from dried blood provides a very useful method for population study of Hb D-Punjab and will be of significance for demonstration of the occurrence of the Hb D-Punjab gene and for understanding of the relations among various nationalities.
authors.affiliation: Laboratory of Medical Genetics, Shanghai Children's Hospital, People's Republic of China.
authors.forename: Y T
authors.initials: YT
authors.lastname: Zeng
authors.forename: S Z
authors.initials: SZ
authors.lastname: Huang
authors.forename: Z R
authors.initials: ZR
authors.lastname: Ren
authors.forename: H J
authors.initials: HJ
authors.lastname: Li
mesh_terms: D002681:China; D004247:DNA / Q000032:analysis; D004259:DNA-Directed DNA Polymerase; D005784:Gene Amplification; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009693:Nucleic Acid Hybridization; D015183:Restriction Mapping; D019914:Taq Polymerase
chemical_list: D006455:Hemoglobins, Abnormal; D004247:DNA; C026237:hemoglobin D Punjab; D019914:Taq Polymerase; D004259:DNA-Directed DNA Polymerase