Multiple minisequencing screen for seven Southeast Asian nondeletional α-thalassemia mutations

Clinical Chemistry

Volumn 49, Issue 5, 2003, Pages 800-803

  Wang, Wen ^a   Ma, Edmond S K ^d   Chan, Amy Y Y ^d   Chui, David H K ^e   Chong, Samuel S ^a,b,c  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b NATIONAL UNIVERSITY HOSPITAL   (Singapore)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF HONG KONG   (Hong Kong)

^e BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; GENOMIC DNA; HEMOGLOBIN H; PRIMER DNA;

ALPHA THALASSEMIA; AMPLICON; ARTICLE; CAPILLARY ELECTROPHORESIS; CHROMOSOME 16P; CODON; DNA DETERMINATION; DNA SEQUENCE; GENE CLUSTER; GENE DELETION; GENE IDENTIFICATION; GENE LOCATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LABORATORY TEST; MUTATIONAL ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SOUTHEAST ASIA; SOUTHERN BLOTTING; TECHNIQUE;

ALPHA-THALASSEMIA; ASIA, SOUTHEASTERN; DNA MUTATIONAL ANALYSIS; DOUBLE-BLIND METHOD; ELECTROPHORESIS, CAPILLARY; GENOTYPE; GLOBINS; HUMANS; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, PROTEIN; SEQUENCE DELETION;

EID: 0242669263     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/49.5.800     Document Type: Article

References (9)

1. Weatherall DJ. The thalassemias. In: Stamatoyannopoulos G, Majerus PW, Perlmutter RM, Varmus H, eds. The molecular basis of blood diseases, 3rd ed. Philadelphia: WB Saunders, 2001:183-226.
2. Higgs DR. Molecular mechanisms of alpha thalassemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of hemoglobin: genetics, pathophysiology, and clinical management, Vol. 17, 1st ed. Cambridge: Cambridge University Press, 2001:405-30.
3. Chui DH, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood 2003;101:791-800.
4. Chan V, Chan VW, Tang M, Lau K, Todd D, Chan TK. Molecular defects in Hb H hydrops fetalis. Br J Haematol 1997;96:224-8.
5. Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol 2000;108:295-9.
6. Tan AS, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia. Blood 2001;98:250-1.
7. Chan V, Yam I, Chen FE, Chan TK. A reverse dot-blot method for rapid detection of non-deletion α thalassaemia. Br J Haematol 1999;104:513-5.
8. Eng B, Patterson M, Walker L, Chui DH, Waye JS. Detection of severe nondeletional α-thalassemia mutations using a single-tube multiplex ARMS assay. Genet Test 2001;5:327-9.
9. Wang W, Kham SKY, Yeo GH, Quah TC, Chong SS. Multiplex minisequencing screen for common Southeast Asian and Indian β-thalassemia mutations. Clin Chem 2003;49:209-18.