Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.

abstract：:We analyzed commonly reported European and Asian obesity-related gene variants in a Mexican-Mestizo population through each single nucleotide polymorphism (SNP) and a genetic risk score (GRS) based on 23 selected SNPs. Study subjects were physically active Mexican-Mestizo adults (n  =  608) with body mass index (BMI) ...

journal_title：Annals of human genetics

authors： Costa-Urrutia P,Abud C,Franco-Trecu V,Colistro V,Rodríguez-Arellano ME,Vázquez-Pérez J,Granados J,Seelaender M

更新日期：2017-05-01 00:00:00

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

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

更新日期：1986-10-01 00:00:00

abstract：:Heterogeneity of the recombination fraction may or may not involve a mixture of two groups of elements. For the mixture situation (families with or without linkage between two gene loci), Morton's homogeneity test is compared with another test (Admixture test) with respect to significance level, power, parameter estim...

journal_title：Annals of human genetics

authors： Ott J

更新日期：1983-10-01 00:00:00

abstract：:It is often assumed that Afrikaners stem from a small number of Dutch immigrants. As a result they should be genetically homogeneous, show founder effects and be rather inbred. By disentangling my own South African pedigree, that is on average 12 generations deep, I try to quantify the genetic heritage of an Afrikaner...

journal_title：Annals of human genetics

authors： Greeff JM

更新日期：2007-09-01 00:00:00

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

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

更新日期：2004-03-01 00:00:00

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

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

更新日期：2018-11-01 00:00:00

abstract：:In the process of genetically mapping a complex disease, the question may arise whether a certain polymorphism is the only causal variant in a region. A number of methods can answer this question, but unfortunately these methods are optimal for bi-allelic loci only. We wanted to develop a method that is more suited fo...

journal_title：Annals of human genetics

authors： Spijker GT,Nolte IM,Jansen RC,Te Meerman GJ

更新日期：2005-01-01 00:00:00

abstract：:1. Two methods have been devised for the detection after electrophoresis of gamma-aminobutyric acid transaminase (GABAT) isozymes. 2. GABAT isozymes can be detected in liver, brain, kidney, pancreas, heart, testis. spinal cord and upper jejunum. The greatest activity occurs in liver. 3. Three different commonly occurr...

journal_title：Annals of human genetics

authors： Jeremiah S,Povey S

更新日期：1981-07-01 00:00:00

abstract：:This palaeogenetic study focused on the analysis of a late prehispanic Argentinean group from the Humahuaca valley, with the main aim of reconstructing its (micro)evolutionary history. The Humahuaca valley, a natural passageway from the eastern plains to the highlands, was the living environment of Andean societies wh...

journal_title：Annals of human genetics

authors： Mendisco F,Keyser C,Seldes V,Rivolta C,Mercolli P,Cruz P,Nielsen AE,Crubezy E,Ludes B

更新日期：2014-09-01 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

authors： Ohashi J,Tokunaga K

更新日期：2002-07-01 00:00:00

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

authors： Lo SH,Liu X,Shao Y

更新日期：2003-07-01 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

authors： Xuan C,Lun LM,Zhao JX,Wang HW,Zhu BZ,Yu S,Liu Z,He GW

更新日期：2013-05-01 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：:The proportion of hex S to hex C in normal and Sandhoff's fibroblasts was determined to be between 1:1 and 1:2 by differential staining of hex S at pH 4.4 with 4-methylumbelliferyl-beta-N-acetylgalactosaminide and of hex C at pH 7.0 with 4-methylumbelliferyl-beta-N-acetylglucosaminide. Hex S and hex C were also semi-q...

journal_title：Annals of human genetics

authors： Beutler E,Kuhl W

更新日期：1977-10-01 00:00:00

abstract：:The use of IBD proportions from a large set of affected sib-pair data to estimate some or all of the main parameters describing the inheritance of a disease susceptibility gene is here considered. We assume there is no recombination present and neglect ascertainment bias, and assume that there are four distinct parent...

journal_title：Annals of human genetics

authors： Green JR,Shah S

更新日期：1996-03-01 00:00:00

abstract：:The tissue distribution of the adenylate kinase isozymes in man has been examined using various substrates. The isozymes attributable to the AK1 and AK2 loci were identified, and an additional set of isozymes probably attributable to a third locus was also found. This locus has been provisionally designated AK3. The A...

journal_title：Annals of human genetics

authors： Wilson DE,Povey S,Harris H

更新日期：1976-01-01 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

authors： Yasuda T,Nadano D,Sawazaki K,Kishi K

更新日期：1992-01-01 00:00:00

abstract：:To investigate patterns of diversity and the evolutionary history of Eurasians, we have sequenced a 2.8 kb region at Xp11.23 in a sample of African and Eurasian chromosomes. This region is in a long intron of CLCN5 and is immediately flanked by a highly variable minisatellite, DXS255, and a human-specific Ta0 LINE. Co...

journal_title：Annals of human genetics

authors： Alonso S,Armour JA

更新日期：2004-09-01 00:00:00

abstract：:Central congenital hypoventilation syndrome (CCHS) is an autonomous control disease producing hypoventilation, high PaCO(2), and low PaO(2) during quiet sleep. The main gene variants detected in CCHS are mutations in the PHOX2b gene in up to 97% of isolated cases. However, CCHS is sometimes associated with autonomic d...

journal_title：Annals of human genetics

authors： Serra A,Görgens H,Alhadad K,Fitze G,Schackert HK

更新日期：2010-07-01 00:00:00

abstract：:A genome-wide association study of serum uric acid (SUA) laevels was performed in a relatively isolated population of European descent from an island of the Adriatic coast of Croatia. The study sample included 532 unrelated and 768 related individuals from 235 pedigrees. Inflation due to relatedness was controlled by ...

journal_title：Annals of human genetics

authors： Karns R,Zhang G,Sun G,Rao Indugula S,Cheng H,Havas-Augustin D,Novokmet N,Rudan D,Durakovic Z,Missoni S,Chakraborty R,Rudan P,Deka R

更新日期：2012-03-01 00:00:00

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

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

更新日期：2009-03-01 00:00:00

abstract：:Complex segregation analysis was conducted in a series of patients with hereditary non-polyposis colorectal cancer (HNPCC) ascertained through probands registered in the Cancer Registry of the Health Care District of Modena in Northern Italy. Altogether there were 71 nuclear families segregating for HNPCC in 28 pedigr...

journal_title：Annals of human genetics

authors： Scapoli C,Ponz De Leon M,Sassatelli R,Benatti P,Roncucci L,Collins A,Morton NE,Barrai I

更新日期：1994-07-01 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：:We screened ATM gene mutations in 104 Italian Ataxia-Telangiectasia patients from 91 unrelated families (detection rate 90%) and found 21 recurrent mutations in 63 families. The majority (67%) of patients were compound heterozygotes, while 33% were homozygotes. To determine the existence of common haplotypes and poten...

journal_title：Annals of human genetics

authors： Chessa L,Piane M,Magliozzi M,Torrente I,Savio C,Lulli P,De Luca A,Dallapiccola B

更新日期：2009-09-01 00:00:00

abstract：:Alpha2-HS glycoprotein (AHSG), which is equivalent to fetuin in other species, is a protein found in human plasma. AHSG is polymorphic with two common alleles and many variants. To examine the intragenic haplotypes and their diversity at this locus, a contiguous genomic DNA sequence (10.3 kb) was analyzed in 20 sample...

journal_title：Annals of human genetics

authors： Osawa M,Yuasa I,Kitano T,Henke J,Kaneko M,Udono T,Saitou N,Umetsu K

更新日期：2001-01-01 00:00:00

abstract：:A simple selection model (fitness 1, w, w2 for AA, Aa, aa) is employed to change the gene frequency of one population to another. The genetic distance is then defined as d = -log w between the two populations. The distance is symmetrical with respect to the two populations. It is additive: d13 = d12 + d23. The samplin...

journal_title：Annals of human genetics

authors： Li CC

更新日期：1978-05-01 00:00:00

abstract：:The objective of this study was to evaluate whether an increased hazard of developing ischemic heart disease (IHD) is associated with any of the three genotypes A560T832/A560T832, A560T832/A560G832 and A560T832/T560T832, defined by variations in two non-coding SNPs in the 5' promoter region of the apolipoprotein E (AP...

journal_title：Annals of human genetics

authors： Stengård JH,Frikke-Schmidt R,Tybjaerg-Hansen A,Nordestgaard BG,Sing CF

更新日期：2007-11-01 00:00:00

abstract：:In case-control studies of complex disease genes, allele frequencies or allele positivities at candidate loci or markers are compared between cases and controls. Although 2 x 2 contingency tables based on allele frequency and allele positivity are generally used to perform simple statistical tests (e.g. a comparison o...

journal_title：Annals of human genetics

authors： Ohashi J,Yamamoto S,Tsuchiya N,Hatta Y,Komata T,Matsushita M,Tokunaga K

更新日期：2001-03-01 00:00:00

abstract：:Hybrid clones (MOGs) were made between the mouse line RAG and a primary fibroblast line from an individual of the rare alphaGLU 2 phenotype. Fifteen independent primary clones and 32 subclones were tested for the presence of human alphaGLU after separation of the human and rodent enzymes by starch gel electrophoresis....

journal_title：Annals of human genetics

authors： Solomon E,Swallow D,Burgess S,Evans L

更新日期：1979-01-01 00:00:00

abstract：:HLA typing was conducted on 577 family members of 86 families having at least two first-degree family members with a lifetime history of major depression or bipolar disorder. The results were combined with a follow-up study of 10 Newfoundland kindreds and with the data obtained from our previous studies, giving a tota...

journal_title：Annals of human genetics

authors： Stancer HC,Weitkamp LR,Persad E,Flood C,Jorna T,Guttormsen SA,Yagnow RL

更新日期：1988-10-01 00:00:00