Association of the level of G gamma chain in the fetal hemoglobin of normal adults with specific haplotypes
| Autor: | Ferdane Kutlar, C. J. Mosley, Sylvia M. Mayson, Titus H.J. Huisman, Y. Hattori |
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| Rok vydání: | 1986 |
| Předmět: |
Adult
Genetic Markers Elevated level Adolescent Clinical Biochemistry DNA Recombinant Black People Biology HindIII White People Polymorphism (computer science) Pregnancy Fetal hemoglobin Humans Genetics (clinical) Fetal Hemoglobin Genetics Biochemistry (medical) Haplotype Infant Newborn Genetic Variation Small sample Hematology DNA Fetal Blood Molecular biology Globins Restriction site biology.protein Female |
| Zdroj: | Hemoglobin. 10(2) |
| ISSN: | 0363-0269 |
| Popis: | The levels of G gamma chain in the fetal hemoglobin of more than 40 Black and Caucasian females were determined with a sensitive high performance liquid chromatography procedure and were correlated with their haplotypes, defined by the presence or absence of 10 different restriction sites. Blood was collected during the 16th and 31st week of pregnancy because of a slightly elevated level of Hb F which facilitated the isolation of this protein from a relatively small sample. Four distinct G gamma levels were observed, each being associated with a specific haplotype. Homozygosity for sub-haplotype A [- + + - + +] is associated with high G gamma values (60-70%); that for sub-haplotype B [- - - - - +] with low levels (25-30%); and that for sub-haplotype C [+ - - - - -] with very low levels (10-15%) (restriction sites listed are Hinc II at epsilon; Xmn I 5' to G gamma; Hind III at G gamma and A gamma; Hinc II at psi beta and 3' to it). Sub-haplotype D [(14)- + - - +] with a rare polymorphism 5' to epsilon is associated with extremely high G gamma values. Hb F levels were low (less than 2.5%) and were independent of the haplotype. It is speculated that, yet unknown, variations in the DNA of gene activity controlling regions are responsible for the differences in G gamma value. |
| Databáze: | OpenAIRE |
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