Functional hemizygosity in the human genome: direct estimate from twelve erythrocyte enzyme loci
dc.contributor.author | Mohrenweiser, Harvey W. | en_US |
dc.date.accessioned | 2006-09-11T19:11:58Z | |
dc.date.available | 2006-09-11T19:11:58Z | |
dc.date.issued | 1987-11 | en_US |
dc.identifier.citation | Mohrenweiser, H. W.; (1987). "Functional hemizygosity in the human genome: direct estimate from twelve erythrocyte enzyme loci." Human Genetics 77(3): 241-245. <http://hdl.handle.net/2027.42/47620> | en_US |
dc.identifier.issn | 1432-1203 | en_US |
dc.identifier.issn | 0340-6717 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/47620 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=3479387&dopt=citation | en_US |
dc.description.abstract | Cord blood samples from 2020 unrelated newborns were screened for levels of enzyme activity for twelve enzymes. The level of enzymatic activity for 100 determinations were consistent with the existence of an enzyme-deficiency allele. The frequency of deficiency alleles in the Black population (0.0071) was four times higher (after removal of the G6PD * A - variant) than in the Caucasian sample (0.0016). These frequencies are approximately double the frequency of rare electrophoretic mobility variants at similar loci in the same population. Given the number of functionally important loci in the human genome, these enzyme deficiency variants could constitute a significant health burden. | en_US |
dc.format.extent | 650584 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag | en_US |
dc.subject.other | Human Genetics | en_US |
dc.subject.other | Biomedicine | en_US |
dc.subject.other | Metabolic Diseases | en_US |
dc.subject.other | Molecular Medicine | en_US |
dc.subject.other | Internal Medicine | en_US |
dc.title | Functional hemizygosity in the human genome: direct estimate from twelve erythrocyte enzyme loci | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan Medical School, 48109-0618, Ann Arbor, MI, USA; Biomedical Sciences Division, L-452, Lawrence Livermore National Laboratory, 94550, Livermore, CA, USA | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 3479387 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/47620/1/439_2004_Article_BF00284477.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF00284477 | en_US |
dc.identifier.source | Human Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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