Chromosomes with one, two, three, and four fetal globin genes: molecular and hematologic analysis.
Analysis of DNA from 852 Island Melanesians has revealed a high frequency of single- and triple-gamma-globin genes in this population. Homozygotes for triple- and single-gamma genes have normal hematologic findings, normal hemoglobin F (HbF) levels, and when there is coexisting alpha thalassemia, ap...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
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1986
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| _version_ | 1797058152285339648 |
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| author | Hill, A Bowden, D Weatherall, D Clegg, J |
| author_facet | Hill, A Bowden, D Weatherall, D Clegg, J |
| author_sort | Hill, A |
| collection | OXFORD |
| description | Analysis of DNA from 852 Island Melanesians has revealed a high frequency of single- and triple-gamma-globin genes in this population. Homozygotes for triple- and single-gamma genes have normal hematologic findings, normal hemoglobin F (HbF) levels, and when there is coexisting alpha thalassemia, appropriate levels of Bart's Hb (gamma 4) at birth. In addition, we have identified an individual with a quadruple-gamma gene chromosome who also has a normal HbF level. All single-gamma genes were A gamma, all triple-gamma genes G gamma G gamma A gamma, and the quadruple-gamma gene G gamma G gamma G gamma A gamma. Analysis of G gamma:A gamma ratios in cord bloods and HbF levels in adults showed that these additional gamma genes are expressed and are down regulated appropriately by the fetal to adult Hb switch. Analysis of the restriction enzyme haplotypes of these various chromosomes indicates that intrachromosomal cross-overs are more likely to have produced these variants than interchromosomal recombination events. |
| first_indexed | 2024-03-06T19:46:31Z |
| format | Journal article |
| id | oxford-uuid:227bba8c-9a1f-4813-86f6-61f986a6dc58 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T19:46:31Z |
| publishDate | 1986 |
| record_format | dspace |
| spelling | oxford-uuid:227bba8c-9a1f-4813-86f6-61f986a6dc582022-03-26T11:39:05ZChromosomes with one, two, three, and four fetal globin genes: molecular and hematologic analysis.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:227bba8c-9a1f-4813-86f6-61f986a6dc58EnglishSymplectic Elements at Oxford1986Hill, ABowden, DWeatherall, DClegg, JAnalysis of DNA from 852 Island Melanesians has revealed a high frequency of single- and triple-gamma-globin genes in this population. Homozygotes for triple- and single-gamma genes have normal hematologic findings, normal hemoglobin F (HbF) levels, and when there is coexisting alpha thalassemia, appropriate levels of Bart's Hb (gamma 4) at birth. In addition, we have identified an individual with a quadruple-gamma gene chromosome who also has a normal HbF level. All single-gamma genes were A gamma, all triple-gamma genes G gamma G gamma A gamma, and the quadruple-gamma gene G gamma G gamma G gamma A gamma. Analysis of G gamma:A gamma ratios in cord bloods and HbF levels in adults showed that these additional gamma genes are expressed and are down regulated appropriately by the fetal to adult Hb switch. Analysis of the restriction enzyme haplotypes of these various chromosomes indicates that intrachromosomal cross-overs are more likely to have produced these variants than interchromosomal recombination events. |
| spellingShingle | Hill, A Bowden, D Weatherall, D Clegg, J Chromosomes with one, two, three, and four fetal globin genes: molecular and hematologic analysis. |
| title | Chromosomes with one, two, three, and four fetal globin genes: molecular and hematologic analysis. |
| title_full | Chromosomes with one, two, three, and four fetal globin genes: molecular and hematologic analysis. |
| title_fullStr | Chromosomes with one, two, three, and four fetal globin genes: molecular and hematologic analysis. |
| title_full_unstemmed | Chromosomes with one, two, three, and four fetal globin genes: molecular and hematologic analysis. |
| title_short | Chromosomes with one, two, three, and four fetal globin genes: molecular and hematologic analysis. |
| title_sort | chromosomes with one two three and four fetal globin genes molecular and hematologic analysis |
| work_keys_str_mv | AT hilla chromosomeswithonetwothreeandfourfetalglobingenesmolecularandhematologicanalysis AT bowdend chromosomeswithonetwothreeandfourfetalglobingenesmolecularandhematologicanalysis AT weatheralld chromosomeswithonetwothreeandfourfetalglobingenesmolecularandhematologicanalysis AT cleggj chromosomeswithonetwothreeandfourfetalglobingenesmolecularandhematologicanalysis |