Three new dinucleotide repeat polymorphisms on human chromosome 9: D9S970, D9S971, and D9S972.

abstract：:Lung inflammation is the major pathogenetic feature for both chronic obstructive pulmonary disease (COPD) and lung cancer. The nuclear factor-kappa B (NFκB) and its inhibitor (IκB) play crucial roles in inflammatory. Here, we tested the hypothesis that single nucleotide polymorphisms (SNPs) in NFκB/IκB confer consiste...

journal_title：Human genetics

authors： Huang D,Yang L,Liu Y,Zhou Y,Guo Y,Pan M,Wang Y,Tan Y,Zhong H,Hu M,Lu W,Ji W,Wang J,Ran P,Zhong N,Zhou Y,Lu J

更新日期：2013-04-01 00:00:00

abstract：:IL2RG, the gene encoding the common gamma chain, gamma c, of the receptor for interleukin-2 and other cytokines, has been identified as the disease gene for severe combined immunodeficiency (SCID) of the X-linked type. Specific mutational diagnosis for X-linked SCID has thus become possible. For many women at risk for...

journal_title：Human genetics

authors： Puck JM,Middelton L,Pepper AE

更新日期：1997-05-01 00:00:00

abstract：:Oxidative damage caused by reactive oxygen species (ROS) and other free radicals is involved in a number of pathological conditions including cancer. In a population-based case-control study of non-Hodgkin lymphoma (NHL) (n = 518 cases, 597 controls) among women in Connecticut, we analyzed one or more single nucleotid...

journal_title：Human genetics

authors： Lan Q,Zheng T,Shen M,Zhang Y,Wang SS,Zahm SH,Holford TR,Leaderer B,Boyle P,Chanock S

更新日期：2007-04-01 00:00:00

abstract：:In the Original article published, the figure number 5: Genomic distribution of ROH is incorrectly published. The correct figure is given below. ...

journal_title：Human genetics

authors： Ceballos FC,Hazelhurst S,Ramsay M

更新日期：2019-10-01 00:00:00

abstract：:During a survey of the mutations of the low density lipoprotein receptor (LDL-R) gene in Italian patients with familial hypercholesterolemia (FH), we identified a novel point mutation, that creates a new EcoRI site at the 5' end of exon 7, in a heterozygous FH subject (FH-100). The sequence of a cDNA fragment encompas...

journal_title：Human genetics

authors： Lelli N,Garuti R,Pedrazzi P,Ghisellini M,Simone ML,Tiozzo R,Cattin L,Valenti M,Rolleri M,Bertolini S

更新日期：1994-05-01 00:00:00

abstract：:Basal levels of C-reactive protein (CRP) have been associated with disease, particularly future cardiovascular events. Twin studies estimate 50% CRP heritability, so the identification of genetic variants influencing CRP expression is important. Existing studies in populations of European ancestry have identified nume...

journal_title：Human genetics

authors： Rhodes B,Morris DL,Subrahmanyan L,Aubin C,de Leon CF,Kelly JF,Evans DA,Whittaker JC,Oksenberg JR,De Jager PL,Vyse TJ

更新日期：2008-07-01 00:00:00

abstract：:Angelman syndrome (AS) is a rare neurodevelopmental disorder. Recently, several mutations have been found in the E6-AP ubiquitin protein ligase gene (UBE3A) in a group of patients who are nondeleted and do not have uniparental disomy or imprinting defects. Most of the reported mutations cluster within exons 9 or 16 of...

journal_title：Human genetics

authors： Fung DC,Yu B,Cheong KF,Smith A,Trent RJ

更新日期：1998-04-01 00:00:00

abstract：:Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus. ...

journal_title：Human genetics

authors： Simoni G,Montali E,Rossella F,Dalprà L,Lo Curto F

更新日期：1979-01-25 00:00:00

abstract：:The human ATSV (axonal transporter of synaptic vesicles) gene encodes an anterograde axonal motor transport protein and demonstrates homology to the kinesin gene family in several species. The human ATSV gene was mapped to chromosome 2q37 by screening of a human/rodent somatic cell hybrid panel by the polymerase chain...

journal_title：Human genetics

authors： Keller MP,Seifried BA,Rabin BA,Chance PF

更新日期：1999-03-01 00:00:00

abstract：:An increased incidence of cystic fibrosis (CF) has been reported in some populations of Native Americans of the Southwest such as the Pueblo, which is a genetic isolate. As the most common mutation found in Caucasians (delta F508) was absent and only one chromosome carried the G542X mutation, we decided to analyze the...

journal_title：Human genetics

authors： Mercier B,Raguénès O,Estivill X,Morral N,Kaplan GC,McClure M,Grebe TA,Kessler D,Pignatti PF,Marigo C

更新日期：1994-12-01 00:00:00

abstract：:Accessory auricular anomaly is a small excrescence of skin that contains elastic cartilage on different regions of the helix and the face. Previous work has shown that the genetic trait of some patients with the isolated symptom of accessory auricular anomaly is autosomal dominant. To map the gene for autosomal domina...

journal_title：Human genetics

authors： Yang Y,Guo J,Liu Z,Tang S,Li N,Yang M,Pang Q,Fan F,Bu J,Yuan ST,Xiao X,Chen Y,Zhao K

更新日期：2006-08-01 00:00:00

abstract：:To elucidate further the genetic mechanisms for follicular thyroid tumor development and progression, we allelotyped follicular thyroid tumors and other thyroid lesions from 92 patients. In general, a low frequency of loss of heterozygosity (LOH) was found, the highest being for chromosomes 3q, 10q, 11p, 11q, 13q, and...

journal_title：Human genetics

authors： Zedenius J,Wallin G,Svensson A,Grimelius L,Höög A,Lundell G,Bäckdahl M,Larsson C

更新日期：1995-07-01 00:00:00

abstract：:A novel heterozygous TGG-->TAG (Trp-29-->Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis. ...

journal_title：Human genetics

authors： Millar DS,Grundy CB,Bignell P,Mitchell DC,Corden D,Woods P,Kakkar VV,Cooper DN

更新日期：1993-03-01 00:00:00

abstract：:Restriction fragment length polymorphism haplotyping of mutated and normal phenylalanine hydroxylase (PAH) alleles in 49 Dutch phenylketonuria (PKU) families was performed. All mutant PAH chromosomes identified by haplotyping (n = 98) were screened for eight of the most predominant mutations. Compound heterozygosity w...

journal_title：Human genetics

authors： Meijer H,Jongbloed RJ,Hekking M,Spaapen LJ,Geraedts JP

更新日期：1993-12-01 00:00:00

abstract：:Three patients with 45,X/46,XYnf mosaicism were investigated by Southern hybridization using both X- and Y-specific DNA probes. Our patients seem to be hemizygous for the X chromosomal loci tested. Single-copy and low-copy repeated Y chromosomal sequences assigned to the short arm, centromere, and euchromatin of the l...

journal_title：Human genetics

authors： Gänshirt-Ahlert D,Pawlowitzki IH,Gal A

更新日期：1987-06-01 00:00:00

abstract：:Extensive studies have been conducted on the analysis of genome function, especially on the expression quantitative trait loci (eQTL). These studies offered promising results for characterization of the functional sequencing variation and understanding of the basic processes of gene regulation. Parent of origin effect...

journal_title：Human genetics

authors： Deng S,Hardin J,Amos CI,Xiao F

更新日期：2020-08-01 00:00:00

abstract：:Several single-gene disorders with clinical and radiological characteristics similar to those observed in multiple sclerosis (MS) patients have been described. To evaluate whether this phenotypic overlap can be ascribed to a common genetic etiology, 28 genes known to present pathogenic mutations for 24 of these disord...

journal_title：Human genetics

authors： Traboulsee AL,Sadovnick AD,Encarnacion M,Bernales CQ,Yee IM,Criscuoli MG,Vilariño-Güell C

更新日期：2017-06-01 00:00:00

abstract：:Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) near the human leukocyte antigen (HLA)-DP loci that were significantly correlated with outcomes of hepatitis B virus (HBV) infection. We performed a case-control study nested in a well-characterized cohort of booster recipients to a...

journal_title：Human genetics

authors： Wu TW,Chu CC,Ho TY,Chang Liao HW,Lin SK,Lin M,Lin HH,Wang LY

更新日期：2013-10-01 00:00:00

abstract：:N-acetylation polymorphism is one of the representative pharmacogenetic traits that underlie interindividual and interethnic differences in response to xenobiotics. To develop a practical genotyping method to predict acetylator phenotype, we studied the conditions for accurate phenotyping, and identified the phenotype...

journal_title：Human genetics

authors： Mashimo M,Suzuki T,Abe M,Deguchi T

更新日期：1992-09-01 00:00:00

abstract：:The X chromosomes of individuals with isolated steroid sulphatase deficiency (X-linked ichthyosis) from ten families were studied by flow karyotype analysis. In four of the families, a small but significant reduction in the relative fluorescence of the X chromosome was detected consistent with a deletion ranging from ...

journal_title：Human genetics

authors： Cooke A,Gillard EF,Yates JR,Mitchell MJ,Aitken DA,Weir DM,Affara NA,Ferguson-Smith MA

更新日期：1988-05-01 00:00:00

abstract：:Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis. We describe five families for which direct...

journal_title：Human genetics

authors： Hes F,Zewald R,Peeters T,Sijmons R,Links T,Verheij J,Matthijs G,Leguis E,Mortier G,van der Torren K,Rosman M,Lips C,Pearson P,van der Luijt R

更新日期：2000-04-01 00:00:00

abstract：:Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic...

journal_title：Human genetics

authors： Basel-Vanagaite L,Yilmaz R,Tang S,Reuter MS,Rahner N,Grange DK,Mortenson M,Koty P,Feenstra H,Farwell Gonzalez KD,Sticht H,Boddaert N,Désir J,Anyane-Yeboa K,Zweier C,Reis A,Kubisch C,Jewett T,Zeng W,Borck G

更新日期：2014-07-01 00:00:00

abstract：:In an attempt to investigate beta-globin gene polymorphism in the Saudi population, DNA samples were analysed using restriction endonucleases, Mst II and Hpa I. Both beta A and beta S genes showed extensive polymorphism and were found to be linked to 13.0 kb, 7.6 kb, 7.0 kb, and 5.6 kb Hpa I fragments. Three DNA sampl...

journal_title：Human genetics

authors： el-Hazmi MA,Jabbar FA,Al-Swailem AR,Warsy AS

更新日期：1986-11-01 00:00:00

abstract：:Fetal DNA in maternal plasma and serum has been shown to be a useful material for fetal gender determination and for screening tests for abnormal pregnancies except during early gestational ages. Maternal serum samples were obtained from 81 pregnant women during the 5th-10th weeks of gestation. Fetal gender was determ...

journal_title：Human genetics

authors： Honda H,Miharu N,Ohashi Y,Samura O,Kinutani M,Hara T,Ohama K

更新日期：2002-01-01 00:00:00

abstract：:A new biallelic polymorphism for FokI restriction enzyme due to C----T transition in the fourth intron of human DRD2 is described. It must be a usefull marker of this candidate gene for several mental disorders. ...

journal_title：Human genetics

authors： Lu CY,Gérard N,Méreaux AG,Chaventré A,Joly JP,Elion J,Krishnamoorthy R

更新日期：1992-05-01 00:00:00

abstract：:We propose a Bayesian hierarchical mixture model framework that allows us to investigate the genetic and environmental effects, gene by gene interactions and gene by environment interactions in the same model. Our approach incorporates the natural hierarchical structure between the main effects and interaction effects...

journal_title：Human genetics

authors： Liu C,Ma J,Amos CI

更新日期：2015-01-01 00:00:00

abstract：:A retrospective study of 200 missed abortions was performed to determine whether morphological criteria alone are sufficient to ascertain a chromosomal aetiology. Placental changes were classified into five morphological and four morphometric groups, according to the severity of alterations, and were then correlated w...

journal_title：Human genetics

authors： Rehder H,Coerdt W,Eggers R,Klink F,Schwinger E

更新日期：1989-07-01 00:00:00

abstract：:A C4 variant found in about 5% of the population is described. The fast-moving part of this variant is governed by an allele (Fx) codominant to F. The Fx allele is in very strong linkage disequilibrium with HLA-B17 as the linkage disequilibrium parameter accounted for nearly 100% of the haplotype frequency of B17,Fx. ...

journal_title：Human genetics

authors： Petersen GB,Sørensen IJ,Buskjaer L,Lamm LU

更新日期：1979-01-01 00:00:00

abstract：:Inherited dilated cardiomyopathy (DCM) is a genetically and phenotypically very heterogeneous disease. DCM is caused by mutations in multiple genes encoding proteins that are involved in force generation, force transmission, energy production and several signalling pathways. Thus, the pathophysiology of heart failure ...

journal_title：Human genetics

authors： Schönberger J,Kühler L,Martins E,Lindner TH,Silva-Cardoso J,Zimmer M

更新日期：2005-12-01 00:00:00

abstract：:Pairs of cultured amniotic cells and maternal fibroblasts ("feto-maternal pairs") were studied for hexosaminidase A (HXA) and arylsulfatase A (ASA) activity. These lysosomal enzyme activities are genetically deficient in Tay-Sachs disease and metachromatic leukodystrophy, respectively. After HXA was standardized by re...

journal_title：Human genetics

authors： Harzer K,Hayashi K

更新日期：1981-01-01 00:00:00