Abstract：
:The affected sib-pair method has been used to investigate the mode of inheritance, and to estimate the "disease" allele frequency, for a number of HLA-associated diseases. One of the assumptions of the original sib-pair method is that the disease confers no selective disadvantage on affected individuals. This is obviously not the situation for most diseases. We have determined the expected HLA haplotype-sharing distribution among affected sib-pairs when selection against individuals with the disease is taken into account. We have shown that if the mode of inheritance of the selectively disadvantageous disease is recessive or additive, the original affected sib-pair analysis, ignoring selection, still estimates the true mode of inheritance, but usually yields an underestimate of the "disease" allele frequency. For intermediate and dominant models of disease predisposition, both the estimates of the degree of penetrance of the "disease" genotypes, and the "disease" allele frequency, are altered if selection is ignored in the analysis. Similarly, allowing for recombination between the "disease" locus and the HLA region does not affect the determination of the mode of inheritance of the disease if it is recessive or additive; in other cases, however, the estimate of the mode of inheritance is affected. The "disease" allele frequency is overestimated when nonzero recombination is ignored for all the modes of inheritance that have been studied.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Payami H,Thomson G,Louis EJsubject
Has Abstractpub_date
1984-03-01 00:00:00pages
352-62issue
2eissn
0002-9297issn
1537-6605journal_volume
36pub_type
杂志文章abstract：:The Genes for Good study uses social media to engage a large, diverse participant pool in genetics research and education. Health history and daily tracking surveys are administered through a Facebook application, and participants who complete a minimum number of surveys are mailed a saliva sample kit ("spit kit") to ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2019.05.006
更新日期：2019-07-03 00:00:00
abstract：:Export of mRNA from the cell nucleus to the cytoplasm is essential for protein synthesis, a process vital to all living eukaryotic cells. mRNA export is highly conserved and ubiquitous. Mutations affecting mRNA and mRNA processing or export factors, which cause aberrant retention of mRNAs in the nucleus, are thus emer...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2015.05.021
更新日期：2015-08-06 00:00:00
abstract：:Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively. To date, mutation screening in t...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302106
更新日期：1998-11-01 00:00:00
abstract：:The recent cloning of cDNA encoding the Ca++ release channel (ryanodine receptor) of human sarcoplasmic reticulum has enabled us to use somatic cell hybrids to localize the ryanodine receptor gene (RYR) to the proximal long arm of human chromosome 19. Studies with additional hybrids containing deletions or translocati...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1990-06-01 00:00:00
abstract：:Mastocytosis is a rare myeloid neoplasm characterized by uncontrolled expansion of mast cells, driven in >80% of affected individuals by acquisition of the KIT D816V mutation. To explore the hypothesis that inherited variation predisposes to mastocytosis, we performed a two-stage genome-wide association study, analyzi...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2020.12.007
更新日期：2021-01-04 00:00:00
abstract：:Mild osteogenesis imperfecta (OI type I and OI type IV) is characterized by postnatal onset of fractures, absence of skeletal deformity, presenile hearing loss with or without blue sclerae, and dentinogenesis imperfecta. Using one common DNA polymorphism associated with the pro alpha 2(I) human collagen gene, we found...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1984-11-01 00:00:00
abstract：:Family-based tests of linkage disequilibrium typically are based on nuclear-family data including affected individuals and their parents or their unaffected siblings. A limitation of such tests is that they generally are not valid tests of association when data from related nuclear families from larger pedigrees are u...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302957
更新日期：2000-07-01 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：1996-08-01 00:00:00
abstract：:Two new morphs (F and G) detected by the centromeric alpha satellite probe p alpha 10RP8 and D10Z1 in HinfI digests are linked to the PstI polymorphisms of D10Z1, confirming their chromosome 10 location. The F and G morphs were in strong linkage disequilibrium with each other but were in weak linkage disequilibrium wi...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1990-12-01 00:00:00
abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem disorder characterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, leukoencephalopathy, thin body habitus, and myopathy. Laboratory studies reveal defects of oxidative-phosphoryla...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/301979
更新日期：1998-08-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 历史文章,杂志文章
doi：
更新日期：1979-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/321286
更新日期：2001-07-01 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：1995-06-01 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.2020.10.001
更新日期：2020-11-05 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：1992-04-01 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.2018.11.002
更新日期：2019-01-03 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.2007.12.020
更新日期：2008-03-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/318791
更新日期：2001-03-01 00:00:00
abstract：:The sib-pair interval-mapping procedure of Fulker and Cardon is extended to take account of all available marker information on a chromosome simultaneously. The method provides a computationally fast multipoint analysis of sib-pair data, using a modified Haseman-Elston approach. It gives results very similar to those ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-05-01 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：1994-12-01 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：1976-07-01 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：1983-03-01 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.2008.02.013
更新日期：2008-04-01 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：1979-09-01 00:00:00
abstract：:Cerebral cavernous malformations (CCM) are hamartomatous vascular malformations characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. They cause seizures and focal neurological deficits due to cerebral hemorrhages. CCM loci have already been assigned to chromosomes 7q (CCM1), 7p...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/381718
更新日期：2004-02-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302729
更新日期：2000-01-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/303054
更新日期：2000-09-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/420856
更新日期：2004-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章,多中心研究
doi：10.1086/373964
更新日期：2003-04-01 00:00:00
abstract：:The introduction of stochastic methods in pedigree analysis has enabled geneticists to tackle computations intractable by standard deterministic methods. Until now these stochastic techniques have worked by running a Markov chain on the set of genetic descent states of a pedigree. Each descent state specifies the path...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1996-06-01 00:00:00
