Antenatal diagnosis of sickle-cell anaemia by means of DNA restriction analysis.
Prenatal diagnosis by restriction enzyme analysis is now available in South Africa for globin-related disorders. An Indian couple at risk for sickle-cell anaemia requested prenatal diagnosis which was carried out by restriction enzyme analysis of DNA from cultured amniotic cells. In the case of the sickle-cell mutation a restriction enzyme, Mst II, is available for direct detection of the mutant gene. Mst II together with linked restriction fragment polymorphisms were used to make the diagnosis in this family. The fetus was found to be homozygous for the normal allele and this was confirmed postnatally by placental DNA analysis.
D000649:Amniocentesis; D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000235:genetics; D004796:Clinical Enzyme Tests; D004262:DNA Restriction Enzymes / Q000032:analysis*; D005260:Female; D005347:Fibroblasts / Q000032:analysis; D006801:Humans; D007962:Leukocytes / Q000032:analysis; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D004262:DNA Restriction Enzymes