Hemoglobin Stanleyville II (alpha 78 Asn----Lys) is associated with a 3.7-kb alpha-globin gene deletion

Hum Genet. 1991 Jan;86(3):319-20. doi: 10.1007/BF00202420.

Abstract

A family with one homozygote and three heterozygotes for hemoglobin Stanleyville II (alpha 78 Asn----Lys) has been analyzed by alpha-globin gene mapping. The pattern of restriction fragments with the enzymes BamHI and BglII demonstrated that the alpha globin variant is associated with a 3.7-kb alpha-globin gene deletion.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asparagine*
  • Chromosome Deletion*
  • Chromosome Mapping
  • DNA / blood
  • DNA / genetics
  • DNA / isolation & purification
  • Female
  • Genetic Carrier Screening
  • Globins / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Homozygote
  • Humans
  • Leukocytes / chemistry
  • Lysine*
  • Male
  • Polymorphism, Restriction Fragment Length

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Stanleyville II
  • Asparagine
  • Globins
  • DNA
  • Lysine