We are analyzing https://link.springer.com/article/10.1007/bf00295665.

Title:
Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3 | Human Genetics
Description:
Gene dosage effects for soluble isocitrate dehydrogenase (IDH1) were investigated in four unrelated cases with abnormalities involving the long arm of chromosome 2. Case 1 was trisomic for 2q33.3→qter, Case 2 monosomic for 2q33.3→q35, Case 3 trisomic for 2q11.2→q24.2, and Case 4 monosomic for 2q23→q24.2. These abnormalities were de novo except in Case 1, where trisomy 2q resulted from a maternal translocation. The red cell IDH1 levels were significantly reduced in Cases 1 (41.4% of normal value) and 2 (51.9%), while they were normal in Cases 3 and 4. The low IDH1 level also in the father of Case 1 (43.6%), together with the common electrophoretic phenotype of IDH1 in red cells as well as leukocytes, led us to suppose that Case 1 was really heterozygous for common and probable null alleles, and that the IDH1 gene locus could be excluded from 2q33.3→qter. On the other hand, normal IDH1 values in the parents of Case 2 were consistent with the hemizygosity for this locus in Case 2. The results suggested that the IDH1 locus could be assigned to the 2q33.3 band, especially the proximal portion of it.
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Keywords {🔍}

google, scholar, article, idh, case, genet, human, dehydrogenase, hum, isocitrate, chromosome, red, privacy, cookies, content, cell, publish, search, genetics, probable, soluble, narahara, kimura, kikkawa, gene, cases, locus, access, japan, data, information, log, journal, research, takahashi, wakita, kasai, kimoto, normal, cells, discover, harris, van, download, okayama, springer, optional, analysis, personal, parties,

Topics {✒️}

human gene loci month download article/chapter bergmeyer hu nadp-dependent isocitric dehydrogenase probable null alleles idh1 gene locus human genetics privacy choices/manage cookies full article pdf red cell metabolism spontaneous chromosome rearrangements related subjects soluble isocitrate dehydrogenase probable assignment european economic area scope submit manuscript trisomy 2q resulted van der heiden van hemel jo distal 2q duplication conditions privacy policy familial hematological malignancies early mitotic cells low idh1 level accepting optional cookies common electrophoretic phenotype check access instant access ring chromosome 2 okayama university school main content log journal finder publish hopkinson da isocitrate dehydrogenase 1 isocitrate dehydrogenase normal idh1 values idh1 locus article log medicine article cite september 1985 volume 71 probable origin article narahara privacy policy red cells personal data nishibayashi rights books a optional cookies manage preferences

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         headline:Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3
         description:Gene dosage effects for soluble isocitrate dehydrogenase (IDH1) were investigated in four unrelated cases with abnormalities involving the long arm of chromosome 2. Case 1 was trisomic for 2q33.3→qter, Case 2 monosomic for 2q33.3→q35, Case 3 trisomic for 2q11.2→q24.2, and Case 4 monosomic for 2q23→q24.2. These abnormalities were de novo except in Case 1, where trisomy 2q resulted from a maternal translocation. The red cell IDH1 levels were significantly reduced in Cases 1 (41.4% of normal value) and 2 (51.9%), while they were normal in Cases 3 and 4. The low IDH1 level also in the father of Case 1 (43.6%), together with the common electrophoretic phenotype of IDH1 in red cells as well as leukocytes, led us to suppose that Case 1 was really heterozygous for common and probable null alleles, and that the IDH1 gene locus could be excluded from 2q33.3→qter. On the other hand, normal IDH1 values in the parents of Case 2 were consistent with the hemizygosity for this locus in Case 2. The results suggested that the IDH1 locus could be assigned to the 2q33.3 band, especially the proximal portion of it.
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      headline:Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3
      description:Gene dosage effects for soluble isocitrate dehydrogenase (IDH1) were investigated in four unrelated cases with abnormalities involving the long arm of chromosome 2. Case 1 was trisomic for 2q33.3→qter, Case 2 monosomic for 2q33.3→q35, Case 3 trisomic for 2q11.2→q24.2, and Case 4 monosomic for 2q23→q24.2. These abnormalities were de novo except in Case 1, where trisomy 2q resulted from a maternal translocation. The red cell IDH1 levels were significantly reduced in Cases 1 (41.4% of normal value) and 2 (51.9%), while they were normal in Cases 3 and 4. The low IDH1 level also in the father of Case 1 (43.6%), together with the common electrophoretic phenotype of IDH1 in red cells as well as leukocytes, led us to suppose that Case 1 was really heterozygous for common and probable null alleles, and that the IDH1 gene locus could be excluded from 2q33.3→qter. On the other hand, normal IDH1 values in the parents of Case 2 were consistent with the hemizygosity for this locus in Case 2. The results suggested that the IDH1 locus could be assigned to the 2q33.3 band, especially the proximal portion of it.
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      dateModified:
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      pageEnd:40
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         Isocitrate
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         Gene Function
         Metabolic Diseases
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