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












  • The effects of demographic transition on the opportunity for selection: changes during the last century in Italy.

    abstract::The index of opportunity for selection proposed by Crow has been calculated for the Italian population during the last century. The evolution of its two components, the pre-reproductive mortality and the variance in fertility, has been also analysed and compared with similar data for the United States. The results cle...

    journal_title:Annals of human genetics

    pub_type: 历史文章,杂志文章


    authors: Terrenato L,Ulizzi L,San Martini A

    更新日期:1979-01-01 00:00:00

  • Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency.

    abstract::Since 1967 a syndrome characterized by renal disease, normochromic anaemia and corneal opacities has been described in 7 members of 3 different Norweigan families. The patients have low levels of esterified cholesterol and lack LCAT (lecithin: cholesterol acyltransferase) activity in plasma. The genetic basis of the d...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Teisberg P,Gjone E,Olaisen B

    更新日期:1975-01-01 00:00:00

  • Regression-based multivariate linkage analysis with an application to blood pressure and body mass index.

    abstract::Multivariate linkage analysis has been suggested for the analysis of correlated traits, such as blood pressure (BP) and body mass index (BMI), because it may offer greater power and provide clearer results than univariate analyses. Currently, the most commonly used multivariate linkage methods are extensions of the un...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Wang T,Elston RC

    更新日期:2007-01-01 00:00:00

  • Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.

    abstract::Parkinson disease (PD) is a chronic neurodegenerative disorder with a cumulative prevalence of greater than one per thousand. To date three independent genome-wide association studies (GWAS) have investigated the genetic susceptibility to PD. These studies implicated several genes as PD risk loci with strong, but not ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Edwards TL,Scott WK,Almonte C,Burt A,Powell EH,Beecham GW,Wang L,Züchner S,Konidari I,Wang G,Singer C,Nahab F,Scott B,Stajich JM,Pericak-Vance M,Haines J,Vance JM,Martin ER

    更新日期:2010-03-01 00:00:00

  • Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers' disease.

    abstract::Peutz-Jeghers' syndrome (PJS) is a disease with autosomal dominant inheritance, which is characterised by gastrointestinal hamartomata and characteristic melanin pigmentation. Three candidate sites for a PJS locus have recently been proposed, chromosomes 1p31-p32, 6q25 and 6p11-cen. At the first of these sites, a mult...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Tomlinson IP,Olschwang S,Abelovitch D,Nakamura Y,Bodmer WF,Thomas G,Markie D

    更新日期:1996-09-01 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

  • Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.

    abstract:INTRODUCTION:Limb-girdle muscular dystrophy (LGMD) is the fourth most common muscular dystrophy, with progressive proximal muscle weakness. However, a large number of neuromuscular conditions are similarly presented. Because of this, the use of high-throughput methods such as next-generation sequencing (NGS) is importa...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Özyilmaz B,Kirbiyik Ö,Özdemir TR,Kaya Özer Ö,Kutbay YB,Erdogan KM,Güvenç MS,Kale MY,Gazeteci H,Kiliç B,Sertpoyraz F,Diniz G,Baydan F,Gençpinar P,Dündar NO,Yiş U

    更新日期:2019-09-01 00:00:00

  • Evaluating linkage and linkage disequilibrium: use of excess sharing and transmission disequilibrium methods in affected sib pairs.

    abstract::Two popular and robust approaches to analysing affected sib pair (ASP) data for linkage are the traditional excess sharing methods and the transmission/disequilibrium test (TDT). Here we derive an overall test of linkage for multi-allelic ASP marker data which comprises two component tests: one for excess sharing and ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Wicks J,Wilson SR

    更新日期:2000-09-01 00:00:00

  • The population genetics of familial mediterranean fever: a meta-analysis study.

    abstract::Our aim was to construct a Familial Mediterranean Fever (FMF) cumulative database and to propose a MEFV based phylogenetic tree. Data were collected from published studies. A meta-analysis based on 16,756 chromosomes from FMF patients and normal individuals from 14 affected populations was performed. Arlequin 2.0 and ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章,meta分析


    authors: Papadopoulos VP,Giaglis S,Mitroulis I,Ritis K

    更新日期:2008-11-01 00:00:00

  • Localization of the oncogene c-erbA1 immediately proximal to the acute promyelocytic leukaemia breakpoint on chromosome 17.

    abstract::Using in situ hybridization, c-erbA1 has been mapped immediately distal to the translocation breakpoint on chromosome 17 in fibroblasts with a karyotype 46,XX, t(15;17)(q22;q11). Previous work has shown that c-erbA1 is proximal to the translocation breakpoint on chromosome 17 in the t(15;17)(q22;q12-21) in acute promy...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Sheer D,Sheppard DM,le Beau M,Rowley JD,San Roman C,Solomon E

    更新日期:1985-07-01 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

  • Assignment of the human locus determining phosphoglycolate phosphatase (PGP) to chromosome 16.

    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


    authors: Povey S,Jeremiah SJ,Barker RF,Hopkinson DA,Robson EB,Cook PJ,Solomon E,Bobrow M,Carritt B,Buckton KE

    更新日期:1980-01-01 00:00:00

  • Posterior probability of linkage and maximal lod score.

    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


    authors: Génin E,Martinez M,Clerget-Darpoux F

    更新日期:1995-01-01 00:00:00

  • Association study of M235T and A-6G polymorphisms in angiotensinogen gene with risk of developing preeclampsia in Iranian population.

    abstract:OBJECTIVE:Preeclampsia (PE) is a life-threatening complication of pregnancy that accounts for 12% of all maternal deaths worldwide. The aim of this study is to investigate the relationships between the polymorphisms of angiotensinogen (AGT) gene and preeclampsia. MATERIAL AND METHODS:In this study, 240 unrelated preec...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Alaee E,Mirahmadi M,Ghasemi M,Kashani E,Attar M,Shahbazi M

    更新日期:2019-11-01 00:00:00

  • Recursive descent probabilities for rare recessive lethals.

    abstract::Recursively computed descent probabilities provide an effective way to evaluate possible ancestries of rare alleles segregating in large and complex genealogies, but they ignore information other than the descent to a small set of current gene copies. We show how descent probability computations can be modified to inc...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Thompson EA,Morgan K

    更新日期:1989-10-01 00:00:00

  • Identification and molecular characterization of a de novo supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay syndrome.

    abstract::Klippel-Trenaunay syndrome (KTS) is a congenital vascular disorder comprised of capillary, venous and lymphatic malformations associated with overgrowth of the affected tissues. In this study, we report the identification of a de novo supernumerary ring chromosome in a patient with mild mental retardation, long taperi...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Timur AA,Sadgephour A,Graf M,Schwartz S,Libby ED,Driscoll DJ,Wang Q

    更新日期:2004-07-01 00:00:00

  • Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996.

    abstract::The Fifth International workshop on chromosome 9 comprised a gathering of 36 scientists from seven countries and included a fairly even distribution of interests along chromosome 9 as well as a strong input from more global activities and from comparative mapping. At least eight groups had participated in the goal set...

    journal_title:Annals of human genetics



    authors: Povey S,Attwood J,Chadwick B,Frezal J,Haines JL,Knowles M,Kwiatkowski DJ,Olopade OI,Slaugenhaupt S,Spurr NK,Smith M,Steel K,White JA,Pericak-Vance MA

    更新日期:1997-05-01 00:00:00

  • The complex and diversified mitochondrial gene pool of Berber populations.

    abstract::The mitochondrial DNA variation of 295 Berber-speakers from Morocco (Asni, Bouhria and Figuig) and the Egyptian oasis of Siwa was evaluated by sequencing a portion of the control region (including HVS-I and part of HVS-II) and surveying haplogroup-specific coding region markers. Our findings show that the Berber mitoc...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Coudray C,Olivieri A,Achilli A,Pala M,Melhaoui M,Cherkaoui M,El-Chennawi F,Kossmann M,Torroni A,Dugoujon JM

    更新日期:2009-03-01 00:00:00

  • Interrelationship and familiality of dyslexia related quantitative measures.

    abstract::Dyslexia is a complex gene-environment disorder with poorly understood etiology that affects about 5% of school-age children. Dyslexia occurs in all languages and is associated with a high level of social and psychological morbidity for the individual and their family; approximately 40-50% have persistent disability i...

    journal_title:Annals of human genetics

    pub_type: 杂志文章,多中心研究


    authors: Schulte-Körne G,Ziegler A,Deimel W,Schumacher J,Plume E,Bachmann C,Kleensang A,Propping P,Nöthen MM,Warnke A,Remschmidt H,König IR

    更新日期:2007-03-01 00:00:00

  • A permutation test for the robust sib-pair linkage method.

    abstract::The robust sib-pair method introduced by Haseman & Elston (1972) is one of the most widely circulated allele-sharing methods for linkage analysis. The procedure evaluates linkage by significance testing of a regression coefficient and, hence, a standard t-test has traditionally been applied despite known violations of...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Wan Y,Cohen J,Guerra R

    更新日期:1997-01-01 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

  • 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

  • Using age of onset to distinguish between subforms of breast cancer.

    abstract::Information on family history and age of onset of breast cancer is examined in an attempt to distinguish between postulated early and late onset forms of breast cancer and to estimate the familial correlation between any subforms that may exist. Data are taken from the Cancer and Steroid Hormone Study, a multicentre, ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Claus EB,Risch NJ,Thompson WD

    更新日期:1990-05-01 00:00:00

  • Search for multifactorial disease susceptibility genes in founder populations.

    abstract::The current challenge in biomedical research is to detect genetic risk factors involved in common complex diseases. The power to detect their role is generally poor in populations that have been large for a long time. It has been suggested that the power may be increased by taking advantage of the specificity of found...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Bourgain C,Genin E,Quesneville H,Clerget-Darpoux F

    更新日期:2000-05-01 00:00:00

  • The association of HLA-linked genes with systemic lupus erythematosus.

    abstract::The reported associations between HLA antigen DR3 and null (QO) alleles at the C4A and C4B loci and systemic lupus erythematosus are here analysed. The empirical logistic method has been applied to a body of data which included the relevant genotypes. The analysis suggests that the association with null alleles at the...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Green JR,Montasser M,Woodrow JC

    更新日期:1986-01-01 00:00:00

  • Evidence for Association between SH2B1 Gene Variants and Glycated Hemoglobin in Nondiabetic European American Young Adults: The Add Health Study.

    abstract::Glycated hemoglobin (HbA1c) is used to classify glycaemia and type 2 diabetes (T2D). Body mass index (BMI) is a predictor of HbA1c levels and T2D. We tested 43 established BMI and obesity loci for association with HbA1c in a nationally representative multiethnic sample of young adults from the National Longitudinal St...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Lange LA,Graff M,Lange EM,Young KL,Richardson AS,Mohlke KL,North KE,Harris KM,Gordon-Larsen P

    更新日期:2016-09-01 00:00:00

  • Placentation and zygosity of twins in Northern Nigeria.

    abstract::Details of placentation and zygosity are reported from a survey of 627 consecutive twin births at three hospitals in Northern Nigeria. Zygosity was determined by study of sex, red cell antigens (ABO, MNSs and Rh) and placental enzymes (PGM1, PGM2, PGM3 and Pep A). The proportion of DZ twins amongst the various ethnic ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Nylander PP,Corney G

    更新日期:1977-01-01 00:00:00

  • Linkage between the loci for peptidase D and cytochrome P-450 (CYP1) on chromosome 19.

    abstract::Families segregating for PEPD have been investigated for linkage between PEPD and CYP1. The results provide evidence for close linkage between PEPD and CYP1 in males. ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Davis MB

    更新日期:1987-01-01 00:00:00

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

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    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

  • Studies on N-Acetyltransferase (NAT2) Genotype Relationships in Emiratis: Confirmation of the Existence of Phenotype Variation among Slow Acetylators.

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    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Al-Ahmad MM,Amir N,Dhanasekaran S,John A,Abdulrazzaq YM,Ali BR,Bastaki S

    更新日期:2017-09-01 00:00:00