A sensitive test for prenatal diagnosis of sickle cell anemia: direct analysis of amniocyte DNA with MstII.
The restriction endonuclease MstII cleaves the human beta-globin gene at the position corresponding to amino acids 5, 6, and 7. The beta S mutation at this position abolishes the recognition site. Hence, the two normal DNA fragments in this region, 1.15 and 0.2 kb in length, are replaced by a single 1.35-kb fragment in DNA from sickle cell anemia. We have set up an assay using these findings. The assay is extremely sensitive and can be applied to DNA directly harvested from 20 ml of amniotic fluid.
D000653:Amniotic Fluid / Q000032:analysis / Q000166:cytology*; D000755:Anemia, Sickle Cell / Q000175:diagnosis*; D004247:DNA / Q000032:analysis*; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D005312:Fetal Blood; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis
D004247:DNA; D004262:DNA Restriction Enzymes; C034726:endodeoxyribonuclease MstII; D015252:Deoxyribonucleases, Type II Site-Specific