Detection of beta-globin gene mutations by polymerase chain reaction.
The polymerase chain reaction and oligonucleotide probe hybridization technique were applied to the detection of two common mutations of the beta-globin gene found in Chinese, namely the 4-base pair deletion at the 41-42 codons and the C to T substitution at nucleotide 654 of IVS-2. The accuracy of the method was established using beta-thalassemia cases with known mutations or haplotypes of the restriction fragment length polymorphism (RFLP). A further 11 cases of thalassemia intermediate and thalassemia minor were then analysed with the same approach. Our results showed that 5 of the 11 cases carried the TCTT-deletion at codons 41-42. Our method is economical both in terms of materials and time needed and in an alternative to the use of the molecular RFLP approach in the prenatal diagnosis of beta-thalassemia.
Lee
H H
HH
Department of Medical Research, Veterans General Hospital, Taiwan, Republic of China.
Chang
J G
JG
Lee
L S
LS
Lin
S T
ST
Ko
T M
TM
Choo
K B
KB
D001483:Base Sequence; D003062:Codon; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013624:Taiwan; D013789:Thalassemia / Q000235:genetics*
D003062:Codon; D015345:Oligonucleotide Probes; D005914:Globins; D004247:DNA