[Study of the molecular causes of thalassemia. II. Deletion of alpha-globin genes in hemoglobinopathy H].
Genetic and molecular studies on one case of alpha-thalassemia, found in Moscow region, have demonstrated that the cause of the disease is the deletion of 3 of 4 alpha-globin genes, presenting in the human diploid genome. The level of expression of the remained alpha-globin gene is much lower than that observed in the patients from other ethnic groups. One can suggest that in this case the deletion is spread on the regulatory zones of this gene.
D004247:DNA / Q000302:isolation & purification; D004591:Electrophoresis, Polyacrylamide Gel; D005006:Ethnicity; D005786:Gene Expression Regulation; D005914:Globins / Q000235:genetics*; D006447:Hemoglobin H / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization; D012333:RNA, Messenger / Q000302:isolation & purification; D012426:Russia; D013154:Spleen / Q000032:analysis; D013789:Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D012333:RNA, Messenger; D005914:Globins; D004247:DNA; D006447:Hemoglobin H
Izuchenie molekuliarnykh prichin talassemii. Soobshchenie II. Deletsii alpha-globinovykh genov pri gemoglobinopatii H.