Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese

Blood Cells, Molecules, and Diseases

Volumn 48, Issue 2, 2012, Pages 86-90

  Lin, Min ^a,b   Zhu, Juan Juan ^c   Wang, Qian ^b   Xie, Long Xu ^c   Lu, Min ^c   Wang, Jun Li ^d   Wang, Chun Fang ^d   Zhong, Tian Yu ^e   Zheng, Lei ^b   Pan, Mei Chen ^f   Wu, Jiao Ren ^a   Wen, Ying Fang ^g   Liu, Gui Rong ^g   Zhan, Xiao Fen ^a   Lin, Fen ^a   Yang, Li Ye ^a  

^a Chaozhou Central Hospital Affiliated to Southern Medical University   (China)

^b SOUTHERN MEDICAL UNIVERSITY   (China)

^c Chaozhou Hybribio Limited Corporation   (China)

^d Center of Clinical Laboratory   (China)

^e GANNAN MEDICAL UNIVERSITY   (China)

^f THE FIRST AFFILIATED HOSPITAL OF SHANTOU UNIVERSITY MEDICAL COLLEGE   (China)

^g MEIZHOU HOSPITAL AFFILIATED TO SUN YAT SEN UNIVERSITY   (China)

Author keywords

Thalassemia; Thalassemia; Gene mutation; Reverse dot blot

Indexed keywords

GENOMIC DNA;

ACCURACY; ALPHA THALASSEMIA; AMNION FLUID; ARTICLE; ASSAY; BETA THALASSEMIA; BLOOD SAMPLING; CHINESE; CHORION VILLUS; CONTROLLED STUDY; DNA SEQUENCE; FLOW THROUGH HYBRIDIZATION; GAP POLYMERASE CHAIN REACTION; GENOTYPE; HUMAN; HYBRIDIZATION; MAJOR CLINICAL STUDY; MULTIPLEX POLYMERASE CHAIN REACTION; OLIGONUCLEOTIDE PROBE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RELIABILITY; REPRODUCIBILITY; REVERSE DOT BLOT ASSAY; SENSITIVITY AND SPECIFICITY; UMBILICAL CORD BLOOD; VALIDATION PROCESS;

ALPHA-GLOBINS; ALPHA-THALASSEMIA; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BETA-GLOBINS; BETA-THALASSEMIA; CHINA; HUMANS; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84856373606     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2011.12.001     Document Type: Article

References (21)

1. Harteveld C.L., Higgs D.R. Alpha-thalassaemia. Orphanet J. Rare Dis. 2010, 28:5-13.
2. Zeng Y.T., Huang S.Z. Disorders of haemoglobin in China. J. Med. Genet. 1987, 24:578-583.
3. Pan H.F., Long G.F., Li Q., et al. Current status of thalassemia in minority populations in Guangxi, China. Clin. Genet. 2007, 71:419-426.
4. Xu X.M., Zhou Y.Q., Luo G.X., et al. The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening. J. Clin. Pathol. 2004, 57:517-522.
5. Liu Z., Ou C.Y., Wang L.R., et al. Detection of deletional determinants of alpha-thalassemia in Li people in Hainan province by a single tube multiplex polymerase chain reaction method. Zhonghua Ya Yi Xue Hui Za Zhi 2004, 84:659-662. Chinese.
6. Wen B.P., Fan M., Dai H.J., et al. Biochemical screening and genetic diagnosis of thalassemia in children from Kunming. Zhongguo Dang Dai Er Ke Za Zhi 2011, 13:104-106.
7. Chong S.S., Boehm C.D., Higgs D.R., Cutting G.R. Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood 2000, 95:360-362.
8. Chan V., Yam I., Chen F.E., Chan T.K. A reverse dot-blot method for rapid detection of non-deletion alpha thalassaemia. Br. J. Haematol. 1999, 104:513-515.
9. Cai S.P., Wall J., Kan Y.W., Chehab F.F. Reverse dot blot probes for the screening of beta-thalassemia mutations in Asians and American blacks. Hum. Mutat. 1994, 3:59-63.
10. Newton C.R., Graham A., Heptinstall L.E., et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 1989, 17:2503-2516.
11. Ma C., Su M.W., Chang B.Y., et al. Restriction fragment length polymorphism of the human beta-globin gene cluster: analysis of a beta-thalassemic family in Taiwan. Proc. Natl. Sci. Counc. Repub. China B. 1986, 10:6-12.
12. Liu Q., Sommer S.S. PAP: detection of ultra rare mutations depends on P* oligonucleotides: "sleeping beauties" awakened by the kiss of pyrophosphorolysis. Hum. Mutat. 2004, 23:426-436.
13. Li Q., Li L.Y., Huang S.W., et al. Rapid genotyping of known mutations and polymorphisms in beta-globin gene based on the DHPLC profile patterns of homoduplexes and heteroduplexes. Clin. Biochem. 2008, 41:681-687.
14. Liu S.S., Leung R.C., Chan K.K., Cheung A.N., Ngan H.Y. Evaluation of a newly developed GenoArray human papillomavirus (HPV) genotyping assay and comparison with the Roche Linear Array HPV genotyping assay. J. Clin. Microbiol. 2010, 48:758-764.
15. Lin M., Wu J.R., Yang L.Y., et al. Hb G-Waimanalo: occurrence in combination with alpha-thalassemia-1 Southeast Asian deletion. Blood Cells Mol. Dis. 2009, 42:36-37.
16. Lin M., Wang Q., Zheng L., et al. Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China. Clin. Genet. 2011, 10.1111/j.1399-0004.2011.01627.x.
17. Shih H.C., Er T.K., Chang T.J., et al. Rapid identification of HBB gene mutations by high-resolution melting analysis. Clin. Biochem. 2009, 42:1667-1676.
18. Xiong F., Huang Q., Chen X., et al. A melting curve analysis-based PCR assay for one-step genotyping of β-thalassemia mutations a multicenter validation. J. Mol. Diagn. 2011, 13:427-435.
19. Ye B.C., Liu H.Q., Zhang Z.F., Lei Z.S., Gao J.L. Simultaneous detection of alpha-thalassemia and beta-thalassemia by oligonucleotide microarray. Haematologica 2004, 89:1010-1012.
20. Ye B.C., Zhang Z.F., Lei Z.S. Oligonucleotide array for detection of common severe determinants of alpha thalassemia. J. Biotechnol. 2005, 115:1-9.
21. Lin M., Yang L.Y., Li L.J., et al. Genital human papillomavirus screening by gene chip in Chinese women of Guangdong province. Aust. N. Z. J. Obstet. Gynaecol. 2008, 48:189-194.