A novel frameshift mutation (+G) at codons 15/16 in a β0 thalassaemia gene results in a significant reduction of β globin mRNA values

• Published in: Journal of clinical pathology Vol. 58; no. 9; pp. 923 - 926
• Main Authors: Mo, Q-H, Li, X-R, Li, C-F, He, Y-L, Xu, X-M
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and Association of Clinical Pathologists 01.09.2005; BMJ; Copyright 2005 Journal of Clinical Pathology
• Subjects: Anemias. Hemoglobinopathies; Biological and medical sciences; Diseases of red blood cells; frameshift mutation; Hematologic and hematopoietic diseases; Investigative techniques, diagnostic techniques (general aspects); Medical sciences; Original; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; PCR; polymerase chain reaction; premature termination codon; PTC; quantitative reverse transcription polymerase chain reaction; RDB; reverse dot blot; reverse transcription; threshold value; β thalassaemia; Hemoglobinopathy; Beta-Peptide chain; Frameshift mutation; Thalassemia; Hemopathy; Genetic disease; Anatomic pathology; Reduction; Hemolytic anemia; Codon; Messenger RNA; Gene; Genetics; Beta globin

Aims: To identify a novel β globin gene mutation found in a Chinese family, and also to assess its functional consequences. Methods: Haematological analysis was performed on all family members. The 23 common mutations of β thalassaemia found in Chinese populations were detected by means of a reverse...