Prenatal diagnosis of β-thalassaemia: Experience in a developing country

Prenatal Diagnosis

Volumn 18, Issue 1, 1998, Pages 1-7

  Saxena, Renu ^a   Jain, Pawan K ^a   Thomas, Elizabeth ^a   Verma, Ishwar C ^a,b  

^a World Hlth Org Collaborating C   (India)

^b SIR GANGA RAM HOSPITAL   (India)

Author keywords

thalassaemia mutations; Amplification refractory mutation system; Prenatal diagnosis

Indexed keywords

ABORTION; ARTICLE; ASIAN; BETA THALASSEMIA; CLINICAL TRIAL; CONTAMINATION; CONTROLLED STUDY; DEVELOPING COUNTRY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; FEMALE; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PATERNITY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

BETA-THALASSEMIA; DEVELOPING COUNTRIES; DNA; FEMALE; FETAL BLOOD; GLOBINS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INDIA; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0031963304     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199801)18:1<1::AID-PD209>3.0.CO;2-Y     Document Type: Article

References (24)

1. Cai, S.P., Wall, J., Kan, Y.W., Chehab, F.F. (1994). Reverse dot blot probes for the screening of β-thalassemia mutations in Asians and American blacks, Hum. Mutat., 3, 59-63.
2. Decorte, R., Cuppens, H., Marynen, P., Cassiman, J.J. (1990). Rapid detection of hypervariable regions by the polymerase chain reaction technique, DNA Cell Biol., 9, 461-469.
3. Garewal, G., Fearon, C.W., Warren, T.C., Marwah, N., Marwah, R.K., Mahadik, C., Kazazian, J.J., Jr. (1994). The molecular basis of β-thalassemia in Punjab and Maharastrian Indians includes a multilocus etiology involving triplicated α-globin loci, Br. J. Haematol., 86, 372-376.
4. Jain, P.K., Dozy, A.M., Verma, I.C., Chehab, F.F. (1994). A new frameshift mutation, insertion of ATCT, at codon 48 in the β-globin gene causes β-thalassemia in an Indian proband, Hum. Mutat., 3, 397-398.
5. Kan, Y.W., Golbus, M.S., Klein, P., et al. (1975). Successful application of prenatal diagnosis of a pregnancy at risk for homozygous β-thalassemia, N. Engl. J. Med., 292, 1099.
6. Kazazian, H.H., Jr, Phillips, J.A., III, Boehm, C.D., et al. (1980). Prenatal diagnosis of β-thalassemia by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites, Blood, 56, 926-930.
7. Kazazian, H.H., Jr, Orkin, S.M., Antonarakis, S.E., Sexton, J.P., Boehm, C.D., Goff, S.C., Waber, P.G. (1984). Molecular characterization of seven β-thalassemia mutations in Asian Indians, EMBO J., 3, 593-596.
8. Miller, S.A., Dykes, D.D., Polesky, M.F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Res., 16, 1215.
9. Modell, B., Bulyzhenkov, V. (1988). Distribution and control of some genetic disorders, World Health Stat., 41, 209-218.
10. Newton, C.R., Graham, A., Heptinstall, L.E., Powell, S.J., Summers, C., Kalsheker, N., Smith, J.C., Markham, A.F. (1989). Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS), Nucleic Acids Res., 17, 2503-2516.
11. Old, J.M. (1993). Fetal DNA analysis. In: Davies, K.E. (Ed.). Human Genetic Diseases - a Practical Approach, 2nd edn, Oxford: IRL Press. 1-19.
12. Old, J.M., Higgs, D.R. (1982). Gene analysis. In: Weatherall, D.J. (Ed.). Methods in Hematology: The Thalassemias, Edinburgh: Churchill Livingstone, 74-102.
13. Old, J.M., Ludlam, C.A. (1991). Antenatal diagnosis, Bailliere's Clin. Hematol., 4, 391-428.
14. Old, J.M., Varawalla, N.Y., Weatherall, D.J. (1990). Rapid detection and prenatal diagnosis of β-thalassemia: studies in Indian and Cypriot populations in the U.K., Lancet, 336, 834-837.
15. Orkin, S.H., Markham, A.F., Kazazian, H.H., Jr. (1983). Direct detection of the common Mediterranean β-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis, J. Clin. Invest., 71, 775-779.
16. Saiki, R.K., Bugawan, T.L., Horn, G.T., Mullis, K.B., Erlich, H.A. (1986). Analysis of enzymatically amplified β-globin gene and HLA-DQ alpha DNA with allele-specific oligonucleotide probes, Nature, 324, 163-166.
17. Saiki, R.K., Walsh, P.S., Levenson, C.H., Erlich, H.A. (1989). Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes, Proc. Natl. Acad. Sci. USA, 86, 6230-6234.
18. Thein, S.L., Hesheth, C., Wallace, R.B., Weatherall, D.J. (1988). The molecular basis of thalassemia major and thalassemia intermedia in Asian Indians: application to prenatal diagnosis, Br. J. Haematol., 70, 225-231.
19. UNICEF (1996). The State of the World's Children, Oxford: Oxford University Press, 80.
20. Varawalla, N.Y., Old, J.M., Sarkar, R., Venkatesan, R., Weatherall, D.J. (1991a). The spectrum of β-thalassemia mutations on the Indian subcontinent: the basis for prenatal diagnosis, Br. J. Haematol., 78, 242-247.
21. Varawalla, N.Y., Old, J.M., Weatherall, D.J. (1991b). Rare β-thalassemia mutations in Asian Indians, Br. J. Haematol., 79, 640-644.
22. Varawalla, N.Y., Fitches, A.C., Old, J.M. (1992). Analysis of β-globin gene haplotypes in Asian indians: origin and spread of β-thalassemia on the Indian subcontinent, Hum. Genet., 90, 443-449.
23. Verma, I.C., Saxena, R., Thomas, E., Jain, P.K. (1997). Regional distribution of 1050 β-thalassemia chromosomes in India, Hum. Genet., in press.
24. Wong, C., Antonarakis, S.E., Goff, S.C., Orkin, S.H., Boehm, C.D., Kazazian, H.H. (1986). On the origin and spread of β-thalassemia: recurrent observations of four mutations in different ethnic groups, Proc. Natl. Acad. Sci. USA, 83, 6529-6532.