caa a22 4500 467985162 CHVBK 20180323112529.0 cr unu---uuuuu 170328e19900801xx s 000 0 eng 10.1007/BF00206749 doi (NATIONALLICENCE)springer-10.1007/BF00206749 Prenatal diagnosis of α-thalassemia by polymerase chain reaction and dual restriction enzyme analysis [Elektronische Daten] [Roger Lebo, Randall Saiki, Kitrena Swanson, Monty Montano, Henry Erlich, Mitchell Golbus] Summary: Asian couples at risk for a fetus with homozygous α-thalassemia (hydrops fetalis) are often identified by their low erythrocyte mean corpuscular volume (MCV) and normal hemoglobin electrophoresis when little time remains to test their genotypes by restriction enzyme analysis. DNA analysis is performed directly on chorionic villi or amniocytes remaining after an aliquot is used to establish a backup cell culture. The polymerase chain reaction (PCR) protocol quickly determines whether the fetus has hydrops fetalis without waiting for cultured cells to grow. Previously, growing cultured fetal cells to obtain more fetal material to establish unambiguously the fetal genotype with two independent restriction enzyme digests absorbed a significant portion of the time remaining to complete prenatal diagnosis. A dual restriction enzyme digestion protocol was development using a 3′ζ-globin probe to clearly distinguish the most common α-thalassemia deletions that represent nearly all the α-thalassemia haplotypes in Southeast Asia. Springer-Verlag, 1990 Lebo Roger Department of Obstetrics, Gynecology, and Reproductive Sciences, U-262, University of California, 94143-0720, San Francisco, CA, USA aut Saiki Randall Cetus Corporation, 94608, Emeryville, CA, USA aut Swanson Kitrena Department of Obstetrics, Gynecology, and Reproductive Sciences, U-262, University of California, 94143-0720, San Francisco, CA, USA aut Montano Monty Department of Obstetrics, Gynecology, and Reproductive Sciences, U-262, University of California, 94143-0720, San Francisco, CA, USA aut Erlich Henry Cetus Corporation, 94608, Emeryville, CA, USA aut Golbus Mitchell Department of Obstetrics, Gynecology, and Reproductive Sciences, U-262, University of California, 94143-0720, San Francisco, CA, USA aut Human Genetics Springer-Verlag 85/3(1990-08-01), 293-299 0340-6717 85:3<293 1990 85 439 https://doi.org/10.1007/BF00206749 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00206749 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lebo Roger Department of Obstetrics, Gynecology, and Reproductive Sciences, U-262, University of California, 94143-0720, San Francisco, CA, USA aut NATIONALLICENCE 700 1- Saiki Randall Cetus Corporation, 94608, Emeryville, CA, USA aut NATIONALLICENCE 700 1- Swanson Kitrena Department of Obstetrics, Gynecology, and Reproductive Sciences, U-262, University of California, 94143-0720, San Francisco, CA, USA aut NATIONALLICENCE 700 1- Montano Monty Department of Obstetrics, Gynecology, and Reproductive Sciences, U-262, University of California, 94143-0720, San Francisco, CA, USA aut NATIONALLICENCE 700 1- Erlich Henry Cetus Corporation, 94608, Emeryville, CA, USA aut NATIONALLICENCE 700 1- Golbus Mitchell Department of Obstetrics, Gynecology, and Reproductive Sciences, U-262, University of California, 94143-0720, San Francisco, CA, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/3(1990-08-01), 293-299 0340-6717 85:3<293 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer