A novel four base-pair deletion within the A?-GLOBin gene promoter associated with slight increase of A? expression in adult

✍ Scribed by Huang, Xiao-Dong; Yang, Xuexian O.; Huang, Rui-Bin; Zhang, Hong-Yuan; Zhao, Hua-Lu; Zhao, Yan-Jun; Huang, Cheng-Le; Hou, Chun-Jiang; Zhang, Jun-Wu

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 70 KB
• Volume: 63
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/(sici)1096-8652(200001)63:1<16::aid-ajh4>3.0.co;2-w

✦ Synopsis

We studied a Chinese family and revealed 5.4% and 3.2% fetal hemoglobin (HbF) with advantageously A␥ type in the mother and the daughter, respectively, using alkali denaturation assay and urea-Triton-acrylamide gel electrophoresis and high-performance liquid chromatography. The father's HbF was less than 0.5%. Large deletion was not observed within the ␤-globin gene cluster by restriction endonulease mapping. Characterization by the polymerase chain reaction (PCR) and DNA sequencing demonstrated the mother is a homozygote with a novel four base-pair "AAGC" (-226 to -223) deletion within the A␥-globin gene promoter and the daughter is a heterozygote with this deletion. The deletion was not detected in the father. No any mutations were identified in the G␥ promoter of all the subjects studied. We propose that the small deletion is associated with the slight increase of A␥ gene expression in adult. Am.