Subtypes of HLA-DQ and -DR defined by DQB1 and DRB1 RFLPs: allele frequencies in the general population and in insulin-dependent diabetes (IDDM) and multiple sclerosis patients.


:We have used the HLA-DQB1 gene as a Southern hybridization probe with TaqI-digested genomic DNA in a study of 600 haplotypes from unrelated individuals and have characterized HLA-DQB1 RFLP patterns associated with the DR specificities DR1-DRw10 and DN1. For six of the specificities (DR2, 4, w6, 7, w8 and 9), we have also identified subtypes (multiple DQB1 band patterns). In a previous study (Cox et al. 1988), we identified RFLPs and subtypes with a DRB1 probe. Using the present results from DQB1 RFLPs to supplement those from DRB1 RFLPs, it was possible to discriminate among all the DR specificities with the exception of a minority of DR7 and DR9 subtypes. A comparison of DQB1 and DRB1 subtypes in the same subjects showed strong linkage disequilibrium for subtypes of some but not all DR specificities. We have also determined the allele frequencies of the DQB1 subtypes in controls and in patients with insulin-dependent diabetes mellitus (IDDM) or multiple sclerosis (MS). A consideration of subtypes in patients and controls indicated that for most DR specificities, neither IDDM nor MS was more strongly associated with any of the DQB1 subtypes than with the serologically defined DR antigens. The exceptions were the DQB1 patterns corresponding to the DQw3.2 subtype of DR4 and the rarer subtype of DR2, which were found in higher frequency in IDDM patients, as has been previously reported.


Ann Hum Genet


Annals of human genetics


Gogolin KJ,Kolaga VJ,Baker L,Lisak RP,Zmijewski CM,Spielman RS




Has Abstract


1989-10-01 00:00:00












  • Biochemical characterization of the genetic variants of human phosphoglycolate phosphatase (PGP).

    abstract::Phosphoglycolate phosphatase (PGP) exhibits a wide range of activities in normal human red cells. Analysis of blood from 57 individuals of known PGP phenotype revealed no correlation between enzyme activity, electrophoretic phenotype or 2,3-DPG concentration. Neither was there evidence of variation in Km, heat stabili...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Turner VS,Hopkinson DA

    更新日期:1981-05-01 00:00:00

  • Peroxisome proliferator-activated receptor delta (PPARD) genetic variation and type 2 diabetes in middle-aged Chinese women.

    abstract::Animal studies have shown that the peroxime proliferator-activated receptor delta (PPARD) gene regulates glucose metabolism and insulin sensitivity. Genetic variation in the PPARD gene might affect physical endurance and has been associated with obesity. We investigated the independent and modifying effect of variants...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Villegas R,Williams S,Gao Y,Cai Q,Li H,Elasy T,Cai H,Edwards T,Xiang YB,Zheng W,Long J,Ou Shu X

    更新日期:2011-09-01 00:00:00

  • The fate of 12 recessive mutations in a single village.

    abstract::In a Muslim Arab village, relatively isolated because of the preference of consanguineous marriages, we studied the fate of 12 mutations in 5 different genes. The study was based on carriers detected among relatives of affected patients and of carriers discovered in a random sample of 424 adults. Most of the mutations...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Zlotogora J,Hujerat Y,Barges S,Shalev SA,Chakravarti A

    更新日期:2007-03-01 00:00:00

  • Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

    abstract::We evaluated denaturing high pressure liquid chromatography (DHPLC) as a scanning method for mutation detection in TSC2, and compared it to conformation-sensitive gel electrophoresis (CSGE) and single-stranded conformation polymorphism analysis (SSCP). The first 20 exons of TSC2 were amplified from 84 TSC patients and...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Choy YS,Dabora SL,Hall F,Ramesh V,Niida Y,Franz D,Kasprzyk-Obara J,Reeve MP,Kwiatkowski DJ

    更新日期:1999-09-01 00:00:00

  • A report of the first biennial meeting on Capita Selecta in Complex Disease Analysis (CSCDA2010), Leuven, Belgium, August 25-27, 2010.

    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



    authors: Van Steen K,Sleegers K

    更新日期:2011-07-01 00:00:00

  • Genetic linkage between the Kell blood group system and prolactin-inducible protein loci: provisional assignment of KEL to chromosome 7.

    abstract::The Kell blood group locus (KEL) is tightly linked to the prolactin-inducible protein locus (PIP) with zeta = 9.12 at theta = 0.00 for combined paternal and maternal meioses. In view of the regional localization of PIP to 7q32-q36 (Myal et al. 1989a), a similar assignment for KEL is favoured. ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Zelinski T,Coghlan G,Myal Y,Shiu RP,Philipps S,White L,Lewis M

    更新日期:1991-05-01 00:00:00

  • Developmental changes in the protein profiles of human cardiac and skeletal muscle.

    abstract::1. The use of SDS electrophoresis as a tool for the analysis of development processes in man has been evaluated. 2. The protein profiles of cardiac and skeletal muscle from foetal (10--24 weeks gestation) infant and adult specimens have been analysed and striking developmental changes were found which involved all the...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Tipler TD,Edwards YH,Hopkinson DA

    更新日期:1978-05-01 00:00:00

  • Inheritance and linkage data for an unusual combination of genes (at the LKE, PI and C6 loci) in a single large sibship.

    abstract::Analysis of the groups of a large sibship showed that the locus for the blood group LKE is not closely linked to the loci for MNS, Rh, HLA, Pi, Gm and C6 and is genetically independent of the loci for P1, K, Xg, Au, secretor, and C3. The locus for the Auberger (Au) blood group was shown to be genetically independent o...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Whitehouse DB,Attwood J,Green C,Bruce M,McQuade M,Tippett P

    更新日期:1988-07-01 00:00:00

  • Differential growth of human foetal gonads with respect to sex and body side.

    abstract::Measurements have been carried out on the gonads of 54 human foetuses, 29 males and 25 females. Crown-rump lengths ranged between 140 and 212 mm. The criteria used were fresh weight, total protein contents and total DNA contents. It was found that for any given crown-rump length class, the mean values of testes exceed...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Mittwoch U

    更新日期:1976-07-01 00:00:00

  • Semiparametric linkage analysis using pseudolikelihoods on neighbouring sets.

    abstract::For many complex diseases, study has suggested that the disease genes influence not only the occurrence of the disease, but also the age of onset. Current methods in linkage analysis are mainly concentrated on affected relative pairs or affected family members, and age of onset information is either ignored or is take...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Li H,Huang J

    更新日期:1998-07-01 00:00:00

  • Absence of significant autosomal lesions in Huntington's disease.

    abstract::Peripheral blood from six patients with Huntington's disease (HD) and six controls were cultured in three types of media known to produce fragile sites. A total of 3000 metaphases per group were scrutinized in a blind coded study. No significantly specific 'hot-spot' was found capable of differentiating between HD pat...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Beverstock GC,Mol A,Wienhofer E

    更新日期:1985-10-01 00:00:00

  • Molecular scanning for mutations in the melanocortin-4 receptor gene in obese/diabetic Japanese.

    abstract::Decreased function of the melanocortin-4 receptor (MC4R) was reported to cause late-onset obesity and insulin resistance in rodents. Thus mutations in the MC4R gene drew strong attention as a possible cause of obesity and diabetes. We screened for mutations in the MC4R gene in extremely obese [body mass index (BMI) > ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Ohshiro Y,Sanke T,Ueda K,Shimajiri Y,Nakagawa T,Tsunoda K,Nishi M,Sasaki H,Takasu N,Nanjo K

    更新日期:1999-11-01 00:00:00

  • A marginal likelihood model for family-based data.

    abstract::This paper presents a marginal likelihood model for family-based data based upon the transmission of marker alleles from each heterozygous parent to his/her affected children. The proposed model, extending the maximum-likelihood-binomial (MLB) method and the disequilibrium maximum-likelihood-binomial (DMLB) method (Ab...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Lo SH,Liu X,Shao Y

    更新日期:2003-07-01 00:00:00

  • Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.

    abstract::Secondary alterations in splicing have been reported to produce semi-functional mRNA from several nonsense mutations in the dystrophin gene. Disruptions of exonic splicing enhancers by single nucleotide changes are thought to underlie such alterations. The precise frequencies of such nonsense mutation-dependent splici...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Nishiyama A,Takeshima Y,Zhang Z,Habara Y,Tran TH,Yagi M,Matsuo M

    更新日期:2008-11-01 00:00:00

  • Inbreeding coefficients for X-linked and autosomal genes in consanguineous marriages in Spanish populations: the case of Guipúzcoa (Basque Country).

    abstract::Inbreeding patterns over the past two centuries have been studied more extensively in Spain and Italy than anywhere else in Europe. Consanguinity studies in mainland Spain have shown that populations settled along the Cantabrian cornice share inbreeding patterns that distinguish them from other populations further sou...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Calderón R,Aresti U,Ambrosio B,González-Martín A

    更新日期:2009-03-01 00:00:00

  • N-ras-like sequences on chromosomes 9, 6 and 22 with a polymorphism at the chromosome 9 locus.

    abstract::Two clones, pCN1 and pCN2, which together form full-length cDNA for N-ras, were used to search for restriction fragment length polymorphisms. pCN2, which entirely consists of 3' non-translated sequences, revealed more bands on DNA transfer hybridizations than could be accounted for using the known restriction map of N...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Middleton-Price H,Spurr N,Hall A,Malcolm S

    更新日期:1988-07-01 00:00:00

  • C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

    abstract::We set out to determine whether expansions in the C9ORF72 repeat found in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) families are associated with Parkinson disease (PD). We determined the repeat size in a total of 889 clinically ascertained patients (including PD and essential tremor plus Pa...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Nuytemans K,Bademci G,Kohli MM,Beecham GW,Wang L,Young JI,Nahab F,Martin ER,Gilbert JR,Benatar M,Haines JL,Scott WK,Züchner S,Pericak-Vance MA,Vance JM

    更新日期:2013-09-01 00:00:00

  • Association of CTLA-4 polymorphisms with increased risks of myasthenia gravis.

    abstract::Myasthenia gravis (MG) is considered to be a kind of autoimmune disorder resulting from dysfunction of neuromuscular transmission caused by autoantibodies against the nicotinic acetylcholine receptors. A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章,meta分析


    authors: Li F,Yuan W,Wu X

    更新日期:2018-11-01 00:00:00

  • Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization.

    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...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Viglietto G,Montanaro V,Calabrò V,Vallone D,D'Urso M,Persico MG,Battistuzzi G

    更新日期:1990-01-01 00:00:00

  • Evidence for a human mitotic mutant with pleiotropic effect.

    abstract::Male and female sibs born to third-cousin parents presented with mental retardation, microcephaly, short stature, juvenile onset limb-girdle muscular dystrophy and multiple chromosome mosaicism in lymphocytes and fibroblasts. Different aneuploidies (mostly trisomies) were found in 15-20% of the cells and trisomies for...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Papi L,Montali E,Marconi G,Guazzelli R,Bigozzi U,Maraschio P,Zuffardi O

    更新日期:1989-07-01 00:00:00

  • Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.

    abstract::Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome with variable phenotypic features such as supravalvular aortic stenosis (SVAS), facial appearance characteristics, growth retardation, and infantile hypercalcemia. This study aimed to detect the 7q11.23 microdeletion in 10 patients with early clini...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Ghaffari M,Tahmasebi Birgani M,Kariminejad R,Saberi A

    更新日期:2018-11-01 00:00:00

  • Similarities in anthropometrical traits of children and their parents in a Bulgarian population.

    abstract::A study has been made of 36 body and 11 craniofacial measurements in a selected sample of 251 Bulgarian families, comprising parents and their children over 15 years. The mid parent-offspring and correlation coefficients indicate that the extent of genetic determination varies considerably from one measurement to anot...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Nikolova M

    更新日期:1996-11-01 00:00:00

  • Bantu and European Y-lineages in Sub-Saharan Africa.

    abstract::Ancient diversity in Sub-Saharan Africa is known to have been re-modulated to a large extent by Bantu migrations in the sub-Sahel region, in two southwards waves of advance through both the west and east coasts. Haplotype matching performed for Y-STR haplotypes in several sub-Saharan populations, both inside and outsi...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Pereira L,Gusmão L,Alves C,Amorim A,Prata MJ

    更新日期:2002-11-01 00:00:00

  • Testing association with interactions by partitioning chi-squares.

    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


    authors: Yang Y,He C,Ott J

    更新日期:2009-01-01 00:00:00

  • Population differences in DNA sequence variation and linkage disequilibrium at the PON1 gene.

    abstract::Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of the paraoxonase 1 gene (PON1) showed differences in association with cardiovascular disease risk in various populations. To characterize the genetic variation underlying these important polymorphisms, we examined DNA sequence variation bo...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Koda Y,Tachida H,Soejima M,Takenaka O,Kimura H

    更新日期:2004-03-01 00:00:00

  • Application of multi-locus analytical methods to identify interacting loci in case-control studies.

    abstract::To identify interacting loci in genetic epidemiological studies the application of multi-locus methods of analysis is warranted. Several more advanced classification methods have been developed in the past years, including multiple logistic regression, sum statistics, logic regression, and the multifactor dimensionali...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Vermeulen SH,Den Heijer M,Sham P,Knight J

    更新日期:2007-09-01 00:00:00

  • Analysis of genetic variation in two human thyroxine-binding plasma proteins by immunodetection after isoelectric focusing.

    abstract::An immunological method for the detection of two thyroxine-binding plasma proteins, thyroxine-binding globulin (TBG) and thyroxine-binding prealbumin (TBPA), following polyacrylamide gel isoelectric focusing is described. Both proteins show complex electrophoretic patterns, attributable to post-translational glycosyla...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Whitehouse DB,Hopkinson DA,Hill AV,Bowden DK

    更新日期:1985-10-01 00:00:00

  • Genetic Polymorphism of CYP2C19 gene in the Stanislas cohort. A link with inflammation.

    abstract::CYP2C19, a member of the cytochrome P450 family, metabolises arachidonic acid to produce epoxyeicosanoid acids, which are involved in vascular tone and inflammation. Thus, this study describes the possible relationship between a CYP2C19 polymorphism (681G>A) and three inflammatory markers: interleukin (IL)-6, tumor ne...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Bertrand-Thiébault C,Berrahmoune H,Thompson A,Marie B,Droesch S,Siest G,Foernzler D,Visvikis-Siest S

    更新日期:2008-03-01 00:00:00

  • Genetics of Hunter syndrome: carrier detection, new mutations, segregation and linkage analysis.

    abstract::We have investigated 31 families segregation for Hunter Syndrome in order to advance our understanding of the genetics of this disease. The hair root test for the diagnosis of carriers of Hunter Syndrome was improved by the adoption of a new diagnostic index that distinguishes between carrier and normal females better...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Chase DS,Morris AH,Ballabio A,Pepper S,Giannelli F,Adinolfi M

    更新日期:1986-10-01 00:00:00

  • Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.

    abstract::Genetic variations in cardiac ion channels have been implicated not only as the causes of inherited arrhythmic syndromes, but also as genetic risk factors for some acquired arrhythmias. To elucidate the potential roles of genetic polymorphisms of the alpha subunit of the voltage-gated sodium channel type V (SCN5A) in ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Maekawa K,Saito Y,Ozawa S,Adachi-Akahane S,Kawamoto M,Komamura K,Shimizu W,Ueno K,Kamakura S,Kamatani N,Kitakaze M,Sawada J

    更新日期:2005-07-01 00:00:00