Hemoglobin Stanleyville II (alpha 78 Asn----Lys) is associated with a 3.7-kb alpha-globin gene deletion.
A family with one homozygote and three heterozygotes for hemoglobin Stanleyville II (alpha 78 Asn----Lys) has been analyzed by alpha-globin gene mapping. The pattern of restriction fragments with the enzymes BamHI and BglII demonstrated that the alpha globin variant is associated with a 3.7-kb alpha-globin gene deletion.
Costa
F F
FF
Department of Clinical Medicine, School of Medicine, Ribeirão Preto, SP, Brazil.
Sonati
M F
MF
Zago
M A
MA
D001216:Asparagine; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D006580:Genetic Carrier Screening; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007962:Leukocytes / Q000737:chemistry; D008239:Lysine; D008297:Male; D012150:Polymorphism, Restriction Fragment Length
D006455:Hemoglobins, Abnormal; C037389:hemoglobin Stanleyville II; D001216:Asparagine; D005914:Globins; D004247:DNA; D008239:Lysine