Abstract：
:The design and feasibility of whole-genome-association studies are critically dependent on the extent of linkage disequilibrium (LD) between markers. Although there has been extensive theoretical discussion of this, few empirical data exist. The authors have determined the extent of LD among 38 biallelic markers with minor allele frequencies >.1, since these are most comparable to the common disease-susceptibility polymorphisms that association studies aim to detect. The markers come from three chromosomal regions-1,335 kb on chromosome 13q12-13, 380 kb on chromosome 19q13.2, and 120 kb on chromosome 22q13.3-which have been extensively mapped. These markers were examined in approximately 1,600 individuals from four populations, all of European origin but with different demographic histories; Afrikaners, Ashkenazim, Finns, and East Anglian British. There are few differences, either in allele frequencies or in LD, among the populations studied. A similar inverse relationship was found between LD and distance in each genomic region and in each population. Mean D' is.68 for marker pairs <5 kb apart and is.24 for pairs separated by 10-20 kb, and the level of LD is not different from that seen in unlinked marker pairs separated by >500 kb. However, only 50% of marker pairs at distances <5 kb display sufficient LD (delta>.3) to be useful in association studies. Results of the present study, if representative of the whole genome, suggest that a whole-genome scan searching for common disease-susceptibility alleles would require markers spaced < or = 5 kb apart.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Dunning AM,Durocher F,Healey CS,Teare MD,McBride SE,Carlomagno F,Xu CF,Dawson E,Rhodes S,Ueda S,Lai E,Luben RN,Van Rensburg EJ,Mannermaa A,Kataja V,Rennart G,Dunham I,Purvis I,Easton D,Ponder BAdoi
10.1086/316906subject
Has Abstractpub_date
2000-12-01 00:00:00pages
1544-54issue
6eissn
0002-9297issn
1537-6605pii
S0002-9297(07)63222-4journal_volume
67pub_type
杂志文章abstract：:The effects of reproductive compensation on an X-linked recessive lethal are examined. Complete compensation without regard to the sex of the offspring increases the incidence of female carriers by a factor of 1.5, and of affected males by 1.33. However, if families reproduce until they have a healthy male offspring, ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1980-07-01 00:00:00
abstract：:Criteria and rules are derived for the most statistically efficient sampling of relatives of affected probands under a simple class of standard genetic models. Results show that the optimal relative type depends on the alternative hypotheses of particular interest. Thus, there is no uniformly optimal strategy, but the...
journal_title：American journal of human genetics
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doi：
更新日期：1981-11-01 00:00:00
abstract：:In this paper we present linkage results from the analysis of 18 Utah breast cancer kindreds, for three 17q markers. Four kindreds had LOD scores greater than 1.0 for at least one of the marker loci. One of these kindreds has a LOD score of 6.07 with D17S579, and we believe it to be the most informative 17q family rep...
journal_title：American journal of human genetics
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doi：
更新日期：1993-04-01 00:00:00
abstract：:Association studies are one of the major strategies for identifying genetic factors underlying complex traits. In samples of related individuals, conventional statistical procedures are not valid for testing association, and maximum likelihood (ML) methods have to be used, but they are computationally demanding and ar...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/513895
更新日期：1997-07-01 00:00:00
abstract：:We report the physical linkage of the gene encoding one of the subunits of the GABAA receptor (GABRA3) to the polymorphic locus DXS374 on the human X chromosome at Xq28. X-linked manic depression and other psychiatric disorders have been mapped to this region, and thus GABRA3 is a potential candidate gene for these di...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1989-12-01 00:00:00
abstract：:Hereditary fructose intolerance (HFI) is a potentially fatal autosomal recessive disease of carbohydrate metabolism. HFI patients exhibit a deficiency of fructose 1-phosphate aldolase (aldolase B), the isozyme expressed in tissues that metabolize fructose. The eight protein-coding exons, including splicing signals, of...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-11-01 00:00:00
abstract：:Huntington disease (HD) is a dominantly inherited neurodegenerative disorder characterized by dysregulation of various genes. Recently, microRNAs (miRNAs) have been reported to be involved in this dysregulation, suggesting that manipulation of appropriate miRNA regulation may have a therapeutic benefit. Here, we repor...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2013.05.025
更新日期：2013-08-08 00:00:00
abstract：:Holoprosencephaly is the incomplete separation of the forebrain during embryogenesis. Both genetic and environmental etiologies have been determined for holoprosencephaly; however, a genetic etiology is not found in most cases. In this report, we present two unrelated individuals with semilobar holoprosencephaly who h...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2019.03.017
更新日期：2019-05-02 00:00:00
abstract：:Genetic hemochromatosis (GH) is believed to be a disease restricted to those of European ancestry. In northwestern Europe, >80% of GH patients are homozygous for one mutation, the substitution of tyrosine for cysteine at position 282 (C282Y) in the unprocessed protein. In a proportion of GH patients, two mutations are...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302318
更新日期：1999-04-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
abstract：:Now that the cystic fibrosis (CF) gene has been identified, direct genetic testing for this disorder is available. The current lack of precision has generated a controversy concerning whether population screening is advisable. However, there is general agreement that testing for CF carriers should be offered to CF-aff...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-08-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1979-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1981-01-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2014.04.002
更新日期：2014-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/318793
更新日期：2001-03-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1996-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1983-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1986-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/515457
更新日期：1997-06-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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doi：
更新日期：1995-09-01 00:00:00
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journal_title：American journal of human genetics
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doi：
更新日期：1979-11-01 00:00:00
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-10-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1993-02-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302782
更新日期：2000-02-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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abstract：:In studying the relationship between genetic abnormalities of red blood cells and malaria endemicity in the Vanuatu archipelago in the southwestern Pacific, we have found that of 1,442 males tested, 98 (6.8%) were G6PD deficient. The prevalence of GdPD deficiency varied widely (0%-39%), both from one island to another...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
