Hb F-Forest Park, a new A gamma variant with two amino acid substitutions, 75(E19)Ile----Thr and 73(E17)Asp----Asn, which can be identified in adults by gene-mapping analysis.
The discovery is reported of a new fetal hemoglobin (Hb) variant which has an abnormal A gamma globin chain with two substitutions, namely 73(E17) Asp----Asn and 75(E19) Ile----Thr (the latter is also seen in the common A gamma T chain). This A gamma T variant was present in a female Caucasian newborn; its quantity at birth was 12.2% of the total Hb F (including F, F1 and F-Forest Park). Extensive gene-mapping analyses with a battery of restriction enzymes and probes identified normal globin gene arrangements in the baby and several relatives, but a -G gamma-G gamma-globin gene arrangement was present in the father, paternal grandmother and half-sister. The Hb F-Forest Park anomaly could be detected in the father, paternal grandfather, half-brother and the baby through digestion of their DNA's with SfaNI and hybridization with the gamma IVS-II probe, because the G----A base substitution at codon 73 leads to loss of a restriction site and to the occurrence of an abnormal fragment.
Chen
S S
SS
Webber
B B
BB
Wilson
J B
JB
Huisman
T H
TH
D001216:Asparagine; D001224:Aspartic Acid; D001483:Base Sequence; D004247:DNA / Q000097:blood; D004262:DNA Restriction Enzymes; D005260:Female; D005312:Fetal Blood / Q000032:analysis; D005319:Fetal Hemoglobin / Q000235:genetics*; D005796:Genes; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007532:Isoleucine; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D013912:Threonine
D006455:Hemoglobins, Abnormal; D007532:Isoleucine; C047594:hemoglobin F Forest Park; D013912:Threonine; D001224:Aspartic Acid; D001216:Asparagine; D004247:DNA; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes