Rapid detection of human hemoglobin Quong Sze by polymerase chain reaction.

T. M. Ko, L. H. Tseng, S. M. Chuang, F. J. Hsieh, T. Y. Lee

Research output: Contribution to journalArticle

Abstract

Human hemoglobin Quong Size is a nondeletional defect involving codon 125 of the alpha 2-globin gene. The molecular defect is a T to C mutation, therefore, a new MspI site (CCGG) is created. Using a pair of flanking DNA primers and polymerase chain reaction, a DNA fragment of 339 basepairs (bp) was amplified. After MspI restriction and gel electrophoresis, the mutation could be clearly identified by the presence of two fragments, 108 and 123 bp. This method is rapid and simple and will be very useful in the genetic counseling of Southeast Asians, including the Chinese, in which nondeletional alpha-thalassemia defects are common.

Original languageEnglish (US)
Pages (from-to)88-90
Number of pages3
JournalJournal of the Formosan Medical Association
Volume92
Issue number1
StatePublished - Jan 1993
Externally publishedYes

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Ko, T. M., Tseng, L. H., Chuang, S. M., Hsieh, F. J., & Lee, T. Y. (1993). Rapid detection of human hemoglobin Quong Sze by polymerase chain reaction. Journal of the Formosan Medical Association, 92(1), 88-90.