Population heterogeneity of the Hpa I restriction site associated with the β globin gene: Implications for prenatal diagnosis

S. R. Panny, A. F. Scott, K. D. Smith, J. A. Phillips, H. H. Kazazian, C. C. Talbot, C. D. Boehm

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Abstract

The Hpa I restriction endonuclease site polymorphism that results in some human β globin genes being contained in a 13-kilobase (kb) DNA restriction fragment rather than in the usual 7.6-kb fragment has been reported to be in linkage disequilibrium with the β(s) mutation. The frequency of the 13-kb fragment among Baltimore black sickle cell (SS) disease patients (58%) is lower than that reported for San Francisco black SS disease patients (87%) and similar to that reported for such New York patients (59%). There is, then, considerable heterogeneity among American black populations. Therefore, for the purpose of prenatal diagnosis, the frequency in the particular population at risk should be established. When the frequency of association of the 13-kb fragment and the β(s) mutation is low, the linkage phase must also be established. When the linkage phase is known, the Hpa I pattern alone can exclude SS disease 54% of the time for Baltimore AS x AS couples.

Original languageEnglish (US)
Pages (from-to)25-35
Number of pages11
JournalAmerican journal of human genetics
Volume33
Issue number1
StatePublished - May 1 1981

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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