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 language | English (US) |
|---|---|
| Pages (from-to) | 88-90 |
| Number of pages | 3 |
| Journal | Journal of the Formosan Medical Association |
| Volume | 92 |
| Issue number | 1 |
| State | Published - Jan 1993 |
| Externally published | Yes |
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Rapid detection of human hemoglobin Quong Sze by polymerase chain reaction. / Ko, T. M.; Tseng, L. H.; Chuang, S. M.; Hsieh, F. J.; Lee, T. Y.
In: Journal of the Formosan Medical Association, Vol. 92, No. 1, 01.1993, p. 88-90.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Rapid detection of human hemoglobin Quong Sze by polymerase chain reaction.
AU - Ko, T. M.
AU - Tseng, L. H.
AU - Chuang, S. M.
AU - Hsieh, F. J.
AU - Lee, T. Y.
PY - 1993/1
Y1 - 1993/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0027420198&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027420198&partnerID=8YFLogxK
M3 - Article
C2 - 8099836
AN - SCOPUS:0027420198
VL - 92
SP - 88
EP - 90
JO - Journal of the Formosan Medical Association
JF - Journal of the Formosan Medical Association
SN - 0929-6646
IS - 1
ER -