Skip to main content
British Medical Journal (Clinical Research Ed.) logoLink to British Medical Journal (Clinical Research Ed.)
. 1984 May 5;288(6427):1327–1329. doi: 10.1136/bmj.288.6427.1327

Prenatal diagnosis of homozygous alpha thalassaemia by direct DNA analysis of uncultured amniotic fluid cells.

V Chan, A Ghosh, T K Chan, V Wong, D Todd
PMCID: PMC1440955  PMID: 6324946

Abstract

Prenatal diagnosis of homozygous alpha thalassaemia was performed in eight successive patients at risk using DNA from uncultured amniotic fluid cells. The presence of alpha gene was determined by restriction endonuclease mapping and hybridisation with cloned alpha and beta globin probes. This method is reliable and may be performed at 16 weeks of gestation.

Full text

PDF
1327

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Dozy A. M., Forman E. N., Abuelo D. N., Barsel-Bowers G., Mahoney M. J., Forget B. G., Kan Y. W. Prenatal diagnosis of homozygous alpha-thalassemia. JAMA. 1979 Apr 13;241(15):1610–1612. [PubMed] [Google Scholar]
  2. Dozy A. M., Kan Y. W., Embury S. H., Mentzer W. C., Wang W. C., Lubin B., Davis J. R., Jr, Koenig H. M. alpha-Globin gene organisation in blacks precludes the severe form of alpha-thalassaemia. Nature. 1979 Aug 16;280(5723):605–607. doi: 10.1038/280605a0. [DOI] [PubMed] [Google Scholar]
  3. Kan Y. W., Dozy A. M. Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. Lancet. 1978 Oct 28;2(8096):910–912. doi: 10.1016/s0140-6736(78)91629-x. [DOI] [PubMed] [Google Scholar]
  4. Kan Y. W., Trecartin R. F., Dozy A. M. Prenatal diagnosis of hemoglobinopathies. Ann N Y Acad Sci. 1980;344:141–150. doi: 10.1111/j.1749-6632.1980.tb33657.x. [DOI] [PubMed] [Google Scholar]
  5. Kattamis C., Metaxotou-Mavromati A., Tsiarta E., Metaxatou C., Wasi P., Wood W. G., Pressley L., Higgs D. R., Clegg J. B., Weatherall D. J. Haemoglobin Bart's hydrops syndrome in Greece. Br Med J. 1980 Jul 26;281(6235):268–270. doi: 10.1136/bmj.281.6235.268. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. LIE-INJO L. E. Alpha-chain thalassemia and hydrops fetalis in Malaya: report of five cases. Blood. 1962 Nov;20:581–590. [PubMed] [Google Scholar]
  7. Ottolenghi S., Lanyon W. G., Paul J., Williamson R., Weatherall D. J., Clegg J. B., Pritchard J., Pootrakul S., Boon W. H. The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion. Nature. 1974 Oct 4;251(5474):389–392. doi: 10.1038/251389a0. [DOI] [PubMed] [Google Scholar]
  8. Pressley L., Higgs D. R., Clegg J. B., Weatherall D. J. Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional. Proc Natl Acad Sci U S A. 1980 Jun;77(6):3586–3589. doi: 10.1073/pnas.77.6.3586. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Rigby P. W., Dieckmann M., Rhodes C., Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. doi: 10.1016/0022-2836(77)90052-3. [DOI] [PubMed] [Google Scholar]
  10. Taylor J. M., Dozy A., Kan Y. W., Varmus H. E., Lie-Injo L. E., Ganesan J., Todd D. Genetic lesion in homozygous alpha thalassaemia (hydrops fetalis). Nature. 1974 Oct 4;251(5474):392–393. doi: 10.1038/251392a0. [DOI] [PubMed] [Google Scholar]
  11. Todd D., Lai M. C., Braga C. A., Soo H. N. Alpha-thalassaemia in Chinese: cord blood studies. Br J Haematol. 1969 Jun;16(6):551–556. doi: 10.1111/j.1365-2141.1969.tb00436.x. [DOI] [PubMed] [Google Scholar]
  12. Wasi P., Na-Nakorn S., Pootrakul S., Sookanek M., Disthasongchan P., Panich V., Pornpatkul M. Alpha- and beta-thalassemia in Thailand. Ann N Y Acad Sci. 1969 Nov 20;165(1):60–82. doi: 10.1111/j.1749-6632.1969.tb27777.x. [DOI] [PubMed] [Google Scholar]
  13. Williamson R., Eskdale J., Coleman D. V., Niazi M., Loeffler F. E., Modell B. M. Direct gene analysis of chorionic villi: A possible technique for first-trimester antenatal diagnosis of haemoglobinopathies. Lancet. 1981 Nov 21;2(8256):1125–1127. doi: 10.1016/s0140-6736(81)90583-3. [DOI] [PubMed] [Google Scholar]
  14. Wong V., Ma H. K., Todd D., Golbus M. S., Dozy A. M., Kan Y. W. Diagnosis of homozygous alpha-thalassemia in cultured amniotic-fluid fibroblasts. N Engl J Med. 1978 Mar 23;298(12):669–670. doi: 10.1056/NEJM197803232981206. [DOI] [PubMed] [Google Scholar]

Articles from British Medical Journal (Clinical research ed.) are provided here courtesy of BMJ Publishing Group

RESOURCES