A new TATA box mutation detected at prenatal diagnosis for beta-thalassemia

Am J Hum Genet. 1989 Jul;45(1):112-4.

Abstract

During the course of prenatal diagnosis for beta-thalassemia in Chinese patients, we encountered a mutation that was not detectable by oligonucleotides for the known Chinese mutations. Amplification of the beta-globin gene by the polymerase chain reaction and direct DNA sequencing revealed a previously undescribed -30 TATA box mutation which was carried by the father. Prenatal diagnosis was achieved, and the fetus did not inherit this beta-thalassemia allele.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amniocentesis
  • Base Sequence
  • Female
  • Genes
  • Globins / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis
  • Promoter Regions, Genetic*
  • Thalassemia / blood
  • Thalassemia / diagnosis
  • Thalassemia / genetics*

Substances

  • Globins