Identification and regional localization of a highly polymorphic dinucleotide repeat D11S614 to the interval in 11q23.3 flanked by recurrent translocation breakpoints.

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

authors： Sturt E

更新日期：1976-11-01 00:00:00

abstract：:Electrophoretic analysis of the Ps protein demonstrated the existence of phenotypes additional to those described by Azen & Denniston (1980). A hypothesis that the polymorphism of the Ps protein is determined by five expressed and one unexpressed alleles was supported by family studies. The gene frequencies in a Japan...

journal_title：Annals of human genetics

authors： Minaguchi K,Shirotani T,Suzuki K

更新日期：1988-01-01 00:00:00

abstract：:Linkage between the Scianna blood group and the Rhesus blood group has been confirmed. Families demonstrating recombinants between U M P K and Sc suggest that U M P K lies between Sc and PGM1. ...

journal_title：Annals of human genetics

authors： Noades JE,Corney G,Cook PJ,Putt W,King J,Fisher RA,Spowart G,Lee M,Bowell PJ

更新日期：1979-10-01 00:00:00

abstract：:Mitochondrial DNA variability in the Polish Roma population has been studied by means of hypervariable segment I and II (HVS I and II) sequencing and restriction fragment-length polymorphism analysis of the mtDNA coding region. The mtDNA haplotypes detected in the Polish Roma fall into the common Eurasian mitochondria...

journal_title：Annals of human genetics

authors： Malyarchuk BA,Grzybowski T,Derenko MV,Czarny J,Miścicka-Sliwka D

更新日期：2006-03-01 00:00:00

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

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

abstract：:Variants in the UGT1A1 gene and its promoter are known to determine levels of unconjugated bilirubin (UCB), but do not explain all cases of unconjugated hyperbilirubinemia. To discover associations with variants in genes other than UGT1A1, we undertook a genome-wide association study. We recruited 200 participants to ...

journal_title：Annals of human genetics

authors： Datta S,Chowdhury A,Ghosh M,Das K,Jha P,Colah R,Mukerji M,Majumder PP

更新日期：2012-01-01 00:00:00

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

abstract：:Familial hypercholesterolemia (FH) is caused by mutations in the genes for LDLR, APOB or PCSK9, and identification of the causative mutation provides definitive diagnosis so that the patient can be treated, their relatives tested and, therefore, premature heart disease prevented. DNA of eight unrelated individuals wit...

journal_title：Annals of human genetics

authors： Pećin I,Whittall R,Futema M,Sertić J,Reiner Z,Leigh SE,Humphries SE

更新日期：2013-01-01 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

authors： Crispim D,Canani LH,Gross JL,Tschiedel B,Souto KE,Roisenberg I

更新日期：2006-07-01 00:00:00

abstract：:Interaction between genetic variants is hypothesized to be one of several putative explanations for the 'case of missing heritability.' Therefore, Genome-Wide Interaction Analysis (GWIA) has recently gained substantial interest. GWIA is computationally challenging and respective power type I error studies are particul...

journal_title：Annals of human genetics

authors： Becker T,Herold C,Meesters C,Mattheisen M,Baur MP

更新日期：2011-01-01 00:00:00

abstract：:The polygenic threshold model assumes that the distribution of the underlying liability is approximately normal. This paper examines the impact of deviations from normality in the underlying liability distribution when the number of loci affecting liability is finite, but large (e.g. 5-10). Skewness and kurtosis of th...

journal_title：Annals of human genetics

authors： Kendler KS,Kidd KK

更新日期：1986-01-01 00:00:00

abstract：:Typically genetic studies of continuous traits such as cholesterol levels or blood pressure assume that interindividual variability follows a normal distribution. Here we develop methods to analyze positively skewed data by assuming a lognormal distribution. We develop a variance components approach for identifying su...

journal_title：Annals of human genetics

authors： Wan Y,De Andrade M,Yu L,Cohen J,Amos CI

更新日期：1998-11-01 00:00:00

abstract：:MUC1 is a highly polymorphic mucin type glycoprotein expressed on the surface of many epithelia, including gastric mucosa, and is present in several body fluids and mucous secretions. A genetic polymorphism due to variation in length of a 60 bp tandemly repeated sequence domain constitutes more than half of the coding...

journal_title：Annals of human genetics

authors： Carvalho F,Peixoto A,Steffensen R,Amorim A,David L,Sobrinho-Simões M

更新日期：1999-05-01 00:00:00

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

authors： Beverstock GC,Mol A,Wienhofer E

更新日期：1985-10-01 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

authors： Pourová R,Janousek P,Jurovcík M,Dvoráková M,Malíková M,Rasková D,Bendová O,Leonardi E,Murgia A,Kabelka Z,Astl J,Seeman P

更新日期：2010-07-01 00:00:00

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

authors： Thompson EA,Morgan K

更新日期：1989-10-01 00:00:00

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

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

abstract：:The equilibrium position is determined for the phenotypic distribution o f a continuous characteristic in a population which reproduces both randomly and assortatively, and wherein generations are overlapping. It is shown that the major assortative mating models so far proposed for continuous traits are not particular...

journal_title：Annals of human genetics

authors： Wilson SR

更新日期：1978-01-01 00:00:00

abstract：:Previous analyses have provided evidence for one or more loci affecting body weight in the H19-IGF2-INS-TH region on chromosome 11p15. To identify the location of a possible causal locus or loci we applied association analysis by composite likelihood to a large cohort under the Malecot model for body weight. A random ...

journal_title：Annals of human genetics

authors： Zhang W,Maniatis N,Rodriguez S,Miller GJ,Day IN,Gaunt TR,Collins A,Morton NE

更新日期：2006-11-01 00:00:00

abstract：:In order to study the matrilineal genetic composition in Cabo Verde (Republic of Cape Verde), an archipelago that used to serve as a Portuguese entrepôt of the Atlantic slave trade, we have analysed a total of 292 mtDNAs sampled from the seven inhabited islands for the hypervariable segment I (HVS-I) and some characte...

journal_title：Annals of human genetics

authors： Brehm A,Pereira L,Bandelt HJ,Prata MJ,Amorim A

更新日期：2002-01-01 00:00:00

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

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

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

authors： Faruq M,Magaña JJ,Suroliya V,Narang A,Murillo-Melo NM,Hernández-Hernández O,Srivastava AK,Mukerji M

更新日期：2017-09-01 00:00:00

abstract：:We describe a novel method for analysis of marker genotype data from admixed populations, based on a hybrid of Bayesian and frequentist approaches in which the posterior distribution is generated by Markov chain simulation and score tests are obtained from the missing-data likelihood. We analysed data on unrelated ind...

journal_title：Annals of human genetics

authors： McKeigue PM,Carpenter JR,Parra EJ,Shriver MD

更新日期：2000-03-01 00:00:00

abstract：:The Regression of Offspring on Mid-Parent (ROMP) method is a test of association between a quantitative trait and a candidate locus. ROMP estimates the trait heritability and the heritability attributable to a locus and requires genotyping the offspring only. In this study, the theory underlying ROMP was revised (ROMP...

journal_title：Annals of human genetics

authors： Roy-Gagnon MH,Mathias RA,Fallin MD,Jee SH,Broman KW,Wilson AF

更新日期：2008-01-01 00:00:00

abstract：:Q-banded chromosome 1 bivalents from six human males were measured in order to determine the locations of the major band borders. Chiasma position was also recorded in these bivalents in order to determine whether chiasmata preferentially occurred in Q-bright regions, Q-dark regions or in the interfaces between. The r...

journal_title：Annals of human genetics

authors： Laurie DA,Hultén MA,Palmer RW

更新日期：1985-05-01 00:00:00

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

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

更新日期：1988-07-01 00:00:00

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

authors： Turner VS,Hopkinson DA

更新日期：1981-05-01 00:00:00

abstract：INTRODUCTION:Currently, next-generation sequencing (NGS) technology is more accessible and available to detect the genetic causation of diseases. Though NGS technology benefited some clinical phenotypes, for some clinical diagnoses such as seizures and epileptic disorders, adaptation occurred slowly. The genetic diagno...

journal_title：Annals of human genetics

authors： Alsubaie L,Aloraini T,Amoudi M,Swaid A,Eyiad W,Al Mutairi F,Ababneh F,Alrifai MT,Baarmah D,Altwaijri W,Alotaibi N,Harthi A,Rumayyan A,Alanazi A,Qrimli M,Alfadhel M,Alfares A

更新日期：2020-11-01 00:00:00

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

authors： Wan Y,Cohen J,Guerra R

更新日期：1997-01-01 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

authors： Fox MF,Lahbib F,Pratt W,Attwood J,Gum J,Kim Y,Swallow DM

更新日期：1992-10-01 00:00:00