Antenatal diagnosis of sickle cell disease: Amniotic fluid cell dna analysis

James R. Jones, Michael McCormack, Christine Dietzel, Vincent Tricomi, Francesco Ramirez

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Using recombinant DNA methods and amniocentesis, the antenatal diagnosis of sickle cell disorders can be accomplished. This article presents the authors' experiences with 21 pregnancies at risk using HpaI and Hind III restriction enzyme digestions of adult leukocytic and fetal amniotic fluid cell DNA. The authors were able to establish direct βAand βs-globin gene linkages to the restricted fragments in 9 families. In 8 families no direct linkages could be determined and estimates of exclusion of fetal βshomozygosity were used. These estimates were made on the basis of the frequencies of association of the Hpal fragments with the βsand βAgenes in the Afro-American population. In 4 families, no estimates or linkages could be established, and the patients were counseled in reference to fetoscopy. The data also indicated the frequencies of association of the Hpal fragments with the βAand βsgene in the New Jersey-New York population. These studies did not seem to indicate any exclusive preferential segregation of the Hpal and Hind III.

Original languageEnglish (US)
Pages (from-to)484-489
Number of pages6
JournalObstetrics and Gynecology
Volume59
Issue number4
StatePublished - Apr 1982

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology

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