Abstract:
:By biochemical characterization of glucose-6-phosphate dehydrogenase (G6PD) from the red cells of seventeen subjects of the population of Matera (Southern Italy) we have identified six genetically determined common variants. Among these, G6PD Metaponto and G6PD A(-) Matera had been already fully characterized. We have now found that A(-) Matera is genetically heterogeneous since one of two subjects examined had the two mutations at codons 68 and 126 characteristic of a typical A(-) variant, while the other subject had only the codon 126 mutation. G6PD Pisticci and G6PD Tursi are two new variants whose molecular lesion is not yet known. G6PD Cagliari-like has biochemical characteristics reminiscent of G6PD Cagliari, isolated in Sardinia, and was found to have the same nucleotide substitution as G6PD Mediterranean. G6PD Montalbano is a new variant, with nearly normal properties, due to a G----A transition which causes an Arg----His amino acid replacement at position 285.
journal_name
Ann Hum Genetjournal_title
Annals of human geneticsauthors
Viglietto G,Montanaro V,Calabrò V,Vallone D,D'Urso M,Persico MG,Battistuzzi Gdoi
10.1111/j.1469-1809.1990.tb00355.xsubject
Has Abstractpub_date
1990-01-01 00:00:00pages
1-15issue
1eissn
0003-4800issn
1469-1809journal_volume
54pub_type
杂志文章abstract::Genome-wide association studies have separately identified four single nucleotide polymorphisms (SNPs) on chromosome 9p21 that confer susceptibility to coronary artery disease (CAD) and myocardial infarction (MI). This study presents the first analysis of these SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) i...
journal_title:Annals of human genetics
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journal_title:Annals of human genetics
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journal_title:Annals of human genetics
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journal_title:Annals of human genetics
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journal_title:Annals of human genetics
pub_type: 杂志文章
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journal_title:Annals of human genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Annals of human genetics
pub_type: 杂志文章
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更新日期:1985-05-01 00:00:00
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journal_title:Annals of human genetics
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更新日期:2008-05-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1111/j.1469-1809.1981.tb00313.x
更新日期:1981-05-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1994.tb01885.x
更新日期:1994-05-01 00:00:00
abstract::Data on Turner Syndrome from four sources were analysed for possible associations with several aetiological factors. Two classes of liveborn propositae were included, those with a non-mosaic 45, X karyotype (XO) and those with an isochromosome of the long arm of the X (iso-X). The numbers were 288 and 84 respectively ...
journal_title:Annals of human genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Annals of human genetics
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journal_title:Annals of human genetics
pub_type: 杂志文章
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更新日期:1997-11-01 00:00:00
abstract::To detect linkage between a trait and a marker, Morton (1955) proposed to calculate the lod score z(theta 1) at a given value theta 1 of the recombination fraction. If z(theta 1) reaches +3 then linkage is concluded. However, in practice, lod scores are calculated for different values of the recombination fraction bet...
journal_title:Annals of human genetics
pub_type: 杂志文章
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更新日期:1995-01-01 00:00:00
abstract::The tissue distribution of the adenylate kinase isozymes in man has been examined using various substrates. The isozymes attributable to the AK1 and AK2 loci were identified, and an additional set of isozymes probably attributable to a third locus was also found. This locus has been provisionally designated AK3. The A...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1976.tb00134.x
更新日期:1976-01-01 00:00:00
abstract::Case-parent triad data are considered a robust basis for studying association between variants of a gene and a disease. Methods evaluating statistical significance of association, like the TDT-test and its extensions, are frequently used. When there are prior hypotheses of a causal effect of the gene under study, howe...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1529-8817.2005.00218.x
更新日期:2006-05-01 00:00:00
abstract::Some studies of mtDNA propose that contemporary Amerindians have descended from four haplotype groups, each defined by specific sets of polymorphisms. One recent study also found evidence of other potential founder haplotypes. We wanted to determine whether the four haplotypes in modern populations were also present i...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1996.tb01193.x
更新日期:1996-07-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
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更新日期:1993-07-01 00:00:00
abstract::Using genetic data from an obesity candidate gene study of self-reported African Americans and European Americans, we investigated the number of Ancestry Informative Markers (AIMs) and candidate gene SNPs necessary to infer continental ancestry. Proportions of African and European ancestry were assessed with STRUCTURE...
journal_title:Annals of human genetics
pub_type: 杂志文章
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更新日期:2013-01-01 00:00:00
abstract::Polymorphisms of the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been reported to be potentially associated with the risks of developing frontotemporal lobar degeneration (FTLD), with inconsistent conclusions. This study aims to comprehensively investigate the potential role of TREM2 variants in...
journal_title:Annals of human genetics
pub_type: 杂志文章,meta分析
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