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

Research output: Contribution to journalArticle

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 - 1981

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Globins
Population Characteristics
Prenatal Diagnosis
Baltimore
Genes
Mutation
San Francisco
DNA Restriction Enzymes
Linkage Disequilibrium
Sickle Cell Anemia
DNA
Population

ASJC Scopus subject areas

  • Genetics

Cite this

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title = "Population heterogeneity of the Hpa I restriction site associated with the β globin gene: Implications for prenatal diagnosis",
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.",
author = "Panny, {S. R.} and Scott, {A. F.} and Smith, {K. D.} and Phillips, {J. A.} and Kazazian, {H. H.} and Talbot, {C. C.} and Boehm, {C. D.}",
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T1 - Population heterogeneity of the Hpa I restriction site associated with the β globin gene

T2 - Implications for prenatal diagnosis

AU - Panny, S. R.

AU - Scott, A. F.

AU - Smith, K. D.

AU - Phillips, J. A.

AU - Kazazian, H. H.

AU - Talbot, C. C.

AU - Boehm, C. D.

PY - 1981

Y1 - 1981

N2 - 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.

AB - 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.

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