Direct demonstration of the HB Suan-Dok mutation in the alpha 2-globin gene by restriction analysis with Sma I.
Hb Suan-Dok [alpha 2(109)(G16)Leu-greater than Arg beta 2] has an alpha-thalassemia-like effect due to low production and instability of the altered alpha-globin chain. Since the Hb Suan-Dok mutation (CTG-greater than CGG) creates a new Sma I restriction site, it was possible to diagnose the mutation by restriction analysis. The location in the alpha 2-globin gene was confirmed. The distribution of alpha-globin gene anomalies and a beta-thalassemia gene in the original family, deduced from examinations at the protein level, was verified by DNA analysis.
Hundrieser
J
J
Department of Human Genetics, Medizinische Hochschule Hannover, Federal Republic of Germany.
Sanguansermsri
T
T
Laig
M
M
Pape
M
M
Kühnau
W
W
Flatz
G
G
D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000150:complications / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000302:isolation & purification; D006801:Humans; D008297:Male; D015183:Restriction Mapping; D013789:Thalassemia / Q000150:complications
D006455:Hemoglobins, Abnormal; C065341:hemoglobin Suan-Dok; D005914:Globins; C025651:CCCGGG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific