Abstract:
:Serum alpha1 antitrypsin levels and phenotypes were examined in 1000 healthy adults in Northern Ireland. The Pi phenotype M accounted for 87-8% Pi MS for 7-3% and Pi MZ for 3-5%. The percentages of the rarer phenotypes were Pi FM 0-3, Pi IM 0-6, Pi SZ 0-4 and Pi Z--0-1. The range of alpha1 antitrypsin levels in different phenotypes showed considerable overlap. Pi MS, Pi MZ and Pi SZ sera gave mean levels of 81%, 61% and 40% respectively of the mean level obtained in Pi M sera and that of the Pi Z--minus serum, 5%. Two distinct types of anomalous pattern were encountered in sera from ten subjects.
journal_name
Ann Hum Genetjournal_title
Annals of human geneticsauthors
Blundell G,Frazer Adoi
10.1111/j.1469-1809.1975.tb00612.xsubject
Has Abstractpub_date
1975-01-01 00:00:00pages
289-94issue
3eissn
0003-4800issn
1469-1809journal_volume
38pub_type
杂志文章abstract::Gene-gene interaction plays an important role in association studies for complex diseases. There have been different approaches to incorporating gene-gene interactions in candidate gene or genome-wide association studies, especially for those genes with no marginal effects but with interaction effects. However, there ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2008.00480.x
更新日期:2009-01-01 00:00:00
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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
doi:10.1111/j.1469-1809.1978.tb00911.x
更新日期:1978-05-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2012.00704.x
更新日期:2012-05-01 00:00:00
abstract::The aims of this study were to investigate the contributions of the mitochondrial DNA m.4216T > C and m.4917A > G variants, and also of the European-specific mitochondrial cluster J/T, to the development of type 2 diabetes mellitus in Caucasian-Brazilian patients from Southern Brazil. We analyzed 347 type 2 diabetes p...
journal_title:Annals of human genetics
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1469-1809.2005.00249.x
更新日期:2006-07-01 00:00:00
abstract::The expected power of genome-wide linkage disequilibrium (LD) testing for a low-frequency disease variant was examined using a simple genetic model in which the degree of LD between the disease variant and the adjacent single nucleotide polymorphism (SNP) marker decreases in proportion to the number of generations sin...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1017/S0003480002001197
更新日期:2002-07-01 00:00:00
abstract::The segregation of human phosphoglycolate phosphatase has been studied in 52 independent human-rodent hybrids and 69 subclones. The results suggest that human PGP is on chromosome 16. Family data suggest that PGP is not close to 16qh or alpha Hp. The most likely regional assignment for PGP would appear to be 16p13 or ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1980.tb01557.x
更新日期:1980-01-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1017/S0003480002001070
更新日期:2002-03-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1017/S0003480002001306
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1979.tb02004.x
更新日期:1979-10-01 00:00:00
abstract::We have studied the impact of natural selection through stillbirth on the Italian population, taking into account the socio-economic heterogeneity of the country. The results suggest that older age at delivery and lower cultural level of the mothers, indicators of critical biological and socio-economic conditions, eve...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.1997.6120137.x
更新日期:1997-03-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2010.00596.x
更新日期:2010-09-01 00:00:00
abstract::Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes. Mutations of the gap junction beta-2 protein (GJB2) gene located in the nonsyndromic hearing loss and deafness (DFNB1) locus (chromosome 13q1...
journal_title:Annals of human genetics
pub_type: 杂志文章,评审
doi:10.1111/ahg.12284
更新日期:2019-01-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.1999.6350383.x
更新日期:1999-09-01 00:00:00
abstract::There is a need for interdisciplinary assessments and interpretations of -omics underpinnings of human complex diseases. However, often investigators from different, yet overlapping, disciplines experience difficulties in understanding the other discipline's language and there is a clear need for establishing a platfo...
journal_title:Annals of human genetics
pub_type:
doi:10.1111/j.1469-1809.2011.00659.x
更新日期:2011-07-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章,meta分析
doi:10.1111/ahg.12029
更新日期:2013-09-01 00:00:00
abstract::The human dopamine transporter (hDAT) participates in dopamine homeostasis by clearing dopamine from the extracellular space using secondary active transport. Dysregulation of hDAT has been reported to be associated with different neuropsychiatric disorders. Dopamine transporter deficiency syndrome (DTDS) is a complex...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12378
更新日期:2020-07-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.1997.6150385.x
更新日期:1997-09-01 00:00:00
abstract::Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect of diverse ATXN7 cis-element in correlation with CAG expansion mutation of SCA7. We initially performed an analysis to identify the ha...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12200
更新日期:2017-09-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1979.tb01542.x
更新日期:1979-07-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1988.tb01108.x
更新日期:1988-10-01 00:00:00
abstract::The protein tyrosine phosphatase N22 (PTPN22) gene C1858T polymorphism has been reported to be associated with susceptibility to type 1 diabetes (T1D) in relatively small sample sizes. This study aimed at investigating the pooled association by carrying out a meta-analysis on the published studies. The Medline, EBSCO,...
journal_title:Annals of human genetics
pub_type: 杂志文章,meta分析
doi:10.1111/ahg.12016
更新日期:2013-05-01 00:00:00
abstract::Although autism is one of the most heritable neuropsychiatric disorders, its underlying genetic architecture has largely eluded description. To comprehensively examine the hypothesis that common variation is important in autism, we performed a genome-wide association study (GWAS) using a discovery dataset of 438 autis...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2009.00523.x
更新日期:2009-05-01 00:00:00
abstract::The objectives of this study were to elucidate the genetic basis of human deoxyribonuclease II (DNase II) and to evaluate its usefulness as a genetic and/or diagnostic marker. We have devised a novel, specific and highly sensitive assay method for the urinary and leukocytic enzymes (Yasuda et al. 1991). The distributi...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1992.tb01125.x
更新日期:1992-01-01 00:00:00
abstract::The gene MUC3 which codes for a mucin expressed in intestine (Gum et al. 1990) has previously been mapped, using somatic cell hybrids, to chromosome 7. We describe here the regional localization of MUC3 to chromosome 7q22 by in situ hybridization. Preliminary linkage analysis using CEPH (Centre d'Etude du Polymorphism...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1992.tb01154.x
更新日期:1992-10-01 00:00:00
abstract::The available simple mapping functions are surveyed, and a new mapping function that provides for positive interference within chromosome arms and no interference across the centromere is proposed, together with the corresponding formula for centromeric linkage. This new function is derived by assuming that all chromo...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1976.tb00175.x
更新日期:1976-11-01 00:00:00
abstract::Recently statements have been made about a special 'genetic homogeneity' of the Icelanders that are at variance with earlier work on blood groups and allozymes. To validate these claims an extensive reanalysis was undertaken of mtDNA variation by examining primary data from original sources on 26 European populations....
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.2003.00003.x
更新日期:2003-01-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1978.tb01903.x
更新日期:1978-01-01 00:00:00
abstract::Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD). We tested 303 unrelated Czech patients with early hearing loss (298 with NSHL and 5 with PS), all...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2010.00581.x
更新日期:2010-07-01 00:00:00
abstract::The marriages contracted between 1600 and 1850 in the parishes Vang and Slidre in the mountain valley of Valdres in Norway were investigated, using the information in the genealogical and local history of the parishes and in various public archives. The parishes functioned as a marriage isolate, in spite of regular co...
journal_title:Annals of human genetics
pub_type: 历史文章,杂志文章
doi:
更新日期:1977-05-01 00:00:00