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
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Asparagine*
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Chromosome Deletion*
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Chromosome Mapping
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DNA / blood
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DNA / genetics
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DNA / isolation & purification
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Female
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Genetic Carrier Screening
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Globins / genetics*
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Hemoglobins, Abnormal / genetics*
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Homozygote
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Humans
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Leukocytes / chemistry
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Lysine*
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Male
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Polymorphism, Restriction Fragment Length
Substances
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Hemoglobins, Abnormal
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hemoglobin Stanleyville II
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Asparagine
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Globins
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DNA
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Lysine