New frameshift mutation, insertion of A, at codon 95 of the β-globin gene causes β-thalassemia in two Vietnamese families

Human Mutation

Volumn 8, Issue 3, 1996, Pages 293-294

  Cai, Shiping ^a   Chehab, Farid F ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; HEMOGLOBIN A2;

ADULT; ARTICLE; BETA THALASSEMIA; CHILD; CLINICAL ARTICLE; DIAGNOSTIC APPROACH ROUTE; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE INSERTION; GENETIC COUNSELING; HUMAN; HUMAN CELL; PREVALENCE; PRIORITY JOURNAL; VIET NAM;

ADENINE; AMINO ACID SEQUENCE; BASE SEQUENCE; BETA-THALASSEMIA; CALIFORNIA; CHILD; CODON; FEMALE; FRAMESHIFT MUTATION; GLOBINS; HOMOZYGOTE; HUMANS; MALE; NUCLEAR FAMILY; POLYMERASE CHAIN REACTION; VIETNAM;

EID: 0029818689     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:3<293::AID-HUMU19>3.0.CO;2-Y     Document Type: Article

References (4)

1. Chang JC, Kan YW (1979) Beta 0 thalassemia, a nonsense mutation in man. Proc Natl Acad Sci USA 76:2886-2889.
2. Kazazian HH Jr, Orkin SH, Markham AF, Chapman CR, Youssoufian H, Waber PG (1984) Quantification of the close association between DNA haplotypes and specific beta-thalassaemia mutations in Mediterraneans. Nature 310:152-154.
3. Kazazian HH Jr, Dowling CE, Waber PG, Huang S, Lo WH (1986) Spectrum of beta-thalassemia genes in China and Southeast Asia. Blood 68:964-966.
4. Maggio A, Giambona A, Cai SP, Wall J, Kan YW, Chehab FF (1993) Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: Application to prenatal diagnosis in Sicily. Blood 81:239-242.