Abstract:
:Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system with putative autoimmune aetiology and complex genetic background. Here, we report the results of a genome screen for linkage disequilibrium (LD) by using 6000 microsatellite markers in 198 HLA-DRB1*15-positive MS patients and 198 unrelated controls (pooled DNA); 4666 analysed markers could be included in the resulting association map, from which 87 revealed significant differences between MS cases and controls.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Goedde R,Sawcer S,Boehringer S,Miterski B,Sindern E,Haupts M,Schimrigk S,Compston A,Epplen JTdoi
10.1007/s00439-002-0801-8keywords:
subject
Has Abstractpub_date
2002-09-01 00:00:00pages
270-7issue
3eissn
0340-6717issn
1432-1203journal_volume
111pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::The authors report a case of a balanced 1;17 translocation with breakpoints located in the secondary constriction of chromosome 1. This translocation is associated with pathological symptoms similar to those observed following a proximal deletion of 1q. We request contact with colleques who have observed similar, or r...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00197700
更新日期:1990-12-01 00:00:00
abstract::Qualitative and quantitative defects in human germ cell production that result in infertility are common and determined at least in part by genetic factors [Matzuk and Lamb, Nat Cell Biol 4(Suppl):s41-s49, 2002]. Yet, very few genes that are associated with germ cell defects in humans have been identified. In this stu...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-0098-5
更新日期:2006-02-01 00:00:00
abstract::In this paper genetic, clinical, and epidemiological studies on a muscular dystrophy which originated and is concentrated in the village of Cullar, Nevşehir of inland Turkey, are reported. A pedigree chart has been constructed by careful and repeated inquiries, and both clinical and laboratory examinations have genera...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273001
更新日期:1984-01-01 00:00:00
abstract::Disease-causing mutations have been identified in various entities of autosomal dominant ataxia and in Friedreich's ataxia. However, no molecular pathogenic factor is known to cause idiopathic cerebellar ataxias. We investigated the CAG/CTG trinucleotide repeats causing spinocerebellar ataxia types 1, 2, 3, 6, 7, 8 an...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000346
更新日期:2000-08-01 00:00:00
abstract::Pediatric cataracts are observed in 1-15 per 10,000 births with 10-25 % of cases attributed to genetic causes; autosomal dominant inheritance is the most commonly observed pattern. Since the specific cataract phenotype is not sufficient to predict which gene is mutated, whole exome sequencing (WES) was utilized to con...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-013-1289-0
更新日期:2013-07-01 00:00:00
abstract::The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germli...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-017-1766-y
更新日期:2017-04-01 00:00:00
abstract::Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb. Seven children with...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220080
更新日期:1992-11-01 00:00:00
abstract::A 21-year-old girl with classical Prader-Willi Syndrome was found to have a 14;15 Robertsonian translocation--45,XX,t(14;15)(p11;q11). This type of Robertsonian translocation was not found in any patient from 8 surveys covering 6144 patients with mental retardation. Chromosome 15 has been involved in translocations in...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291777
更新日期:1980-01-01 00:00:00
abstract::A Turkish family is described with two members suffering from familial amyloidotic polyneuropathy. Their transthyretin genes were examined using the polymerase chain reaction, and both patients possessed the met30 mutation in both of their transthyretin genes. In this family, only individuals who are homozygous for th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00205182
更新日期:1990-11-01 00:00:00
abstract::Three 46,XY phenotypically male, azoospermic brothers out of thirteen sibs from a consanguineous marriage were studied and found to have a unique pattern of testicular histology with arrest of spermatogenesis at the pachytene stage of primary spermatocytes. Endocrinological evaluation showed elevated plasma luteinizin...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295476
更新日期:1981-01-01 00:00:00
abstract::It has been demonstrated that the genetic polymorphism of human serum orosomucoid (ORM) is controlled by polymorphic ORM1 and monomorphic ORM2 loci. In this study a Japanese family was encountered in which several members had puzzling electrophoretic patterns consisting of four bands. The ORM patterns were due to the ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284480
更新日期:1987-11-01 00:00:00
abstract::The alphafetoprotein (AFP) concentration in maternal serum was determined before and after chorionic villus sampling (CVS). A significant increase of 20% or more in the pre-CVS level was noted immediately after sampling in 59% of 837 pregnancies indicating some degree of feto-maternal haemorrhage. The increase in the ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291241
更新日期:1988-01-01 00:00:00
abstract::In order to map the gene that is responsible for the DNA-repair defect in severe combined immune deficient (SCID) mice, a mixture of microcells independently isolated from mouse A9 cells containing pSV2neo-tagged human chromosomes 5, 7, 8, 9, 11, 15, 18 or 20 were fused with SCID fibroblast cell lines SCVA2 and SCVA4,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218907
更新日期:1994-01-01 00:00:00
abstract::Therapeutic interventions that lower LDL-cholesterol effectively reduce the risk of coronary artery disease (CAD). However, statins, the most widely prescribed LDL-cholesterol lowering drugs, increase diabetes risk. We used genome-wide association study (GWAS) data in the public domain to investigate the relationship ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1647-9
更新日期:2016-05-01 00:00:00
abstract::Red blood cell esterase D (ESD) polymorphism was studied in a French-Canadian population from Quebec city, Canada, by means of high voltage electrophoresis on agarose gel followed, in heterozygotes for ESD 1, by IEF to reveal the possible allele ESD*5. Frequencies of the ESD alleles in 904 unrelated individuals were E...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00401244
更新日期:1986-07-01 00:00:00
abstract::By analyzing c-myc specific fragments from white blood cell DNAs of 98 gastric cancer patients and 46 control subjects, we observed 6 unexpected patterns due to presence of a variant c-myc gene in addition to the normal gene. Restriction enzyme mapping indicated that the variant c-myc gene was the result of a 5' delet...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00209016
更新日期:1991-09-01 00:00:00
abstract::Sphingolipid activator protein (SAP) deficiency, previously described in two sibs and shown to be caused by the absence of the common saposin precursor (prosaposin), was further characterized by biochemical lipid and enzyme studies and by ultrastructural analysis. The 20-week-old fetal sib had increased concentrations...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00219682
更新日期:1993-09-01 00:00:00
abstract::Three children with hyperphenylalaninaemia and hyperphenylalaninaemic mothers are presented. At least one of the affected children was a compound heterozygote for hyperphenylalaninaemia and phenylketonuria. The families were examined by an L-phenylalanine loading test, by direct determination of phenylalanine hydroxyl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291569
更新日期:1984-01-01 00:00:00
abstract::A 12 kb haplotype upstream of the key signaling protein gene, AKT1, has been associated with insulin resistance and metabolic syndrome (Devaney et al. 2010). The region contains the first exon and promoter sequences of AKT1, but also includes the complete transcript unit for a highly conserved yet uncharacterized zinc...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0940-2
更新日期:2011-04-01 00:00:00
abstract::The recent discovery that the extra chromosome in about 30% of cases of 47, trisomy 21 is of paternal origin has revived interest in the possibility of paternal age as a risk factor for a Down syndrome birth, independent of maternal age. Parental age distribution for 611 Down's syndrome 47, +21 cases was studied. The ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291534
更新日期:1983-01-01 00:00:00
abstract::Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050348
更新日期:1997-02-01 00:00:00
abstract::We have used four independently isolated cDNA probes for human apolipoprotein B (apo B), to isolate overlapping genomic recombinants for the 3' portion of the apo B gene. The cDNA clones and a unique fragment from the genomic recombinant have been used to identify the human apo B gene in DNA from a series of rodent X ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00279093
更新日期:1986-08-01 00:00:00
abstract::A survey of more than 21 000 haemolysates from blood samples collected in various parts of south and southeast Asia, Australasia and the Western Pacific and examined in this laboratory has revealed several new alleles controlling variants of sMDH; in addition, further information has been provided on the distribution ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00396480
更新日期:1978-07-12 00:00:00
abstract::Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in white populations. Significant regional differences in CF mutations among affected individuals have been reported. We have studied the geographic distribution of the relative frequencies of the three most common Dutch CF mutations, deltaF5...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050745
更新日期:1998-05-01 00:00:00
abstract::This is the first report in the literature of siblings affected with Down syndrome; one sibling had a nondisjunction of chromosome 21 and the other a (21q;21q) translocation. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273853
更新日期:1987-01-01 00:00:00
abstract::Two major obstetric diseases, preeclampsia (PE), a pregnancy-induced endothelial dysfunction leading to hypertension and proteinuria, and intra-uterine growth-restriction (IUGR), a failure of the fetus to acquire its normal growth, are generally triggered by placental dysfunction. Many studies have evaluated gene expr...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02248-x
更新日期:2021-01-12 00:00:00
abstract::The frequency and distribution of aphidicolin (APC)-induced common fragile sites (cfs) were analyzed in human embryonic cells of different origins. Embryonic lung fibroblasts (MRC-5), amniocytes (AMINO) and embryonic retina cells (HERO790) are as sensitive to the APC-induced clastogenic effect as peripheral lymphocyte...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210405
更新日期:1995-09-01 00:00:00
abstract::Extremely rare diseases are increasingly recognized due to wide-spread, inexpensive genomic sequencing. Understanding the incidence of rare disease is important for appreciating its health impact and allocating recourses for research. However, estimating incidence of rare disease is challenging because the individual ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02135-5
更新日期:2020-05-01 00:00:00
abstract::The Great Lakes lie within a region of East Africa with very high human genetic diversity, home of many ethno-linguistic groups usually assumed to be the product of a small number of major dispersals. However, our knowledge of these dispersals relies primarily on the inferences of historical, linguistics and oral trad...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1583-0
更新日期:2015-09-01 00:00:00
abstract::Complementation tests after polyethylene glycol fusion have been performed between 10 citrullinemic strains with argininosuccinate synthetase deficiency and between five strains with argininosuccinate lyase deficiency. No complementation was observed between the citrullinemic strains, while two groups of complementati...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278945
更新日期:1981-01-01 00:00:00