Abstract:
:A myeloblastin/proteinase-3 (MBN/PR-3) cDNA probe detects two bi-allelic (BglII, PvuII) DNA polymorphisms. These restriction fragment length polymorphisms provide new genetic markers on chromosome 19.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Schwaller J,Chen T,Fey MF,Tobler Adoi
10.1007/BF00216465subject
Has Abstractpub_date
1993-11-01 00:00:00pages
525issue
5eissn
0340-6717issn
1432-1203journal_volume
92pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Hereditary spastic paraplegia (HSP) is a genetically heterogenous group of inherited neurodegenerative disorders. Recently, an autosomal recessive form of HSP was mapped to 16q24.3, and subsequently the defective gene associated to HSP was identified and designated SPG7. The SPG7 gene product was predicted to encode a...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s004390050985
更新日期:1999-06-01 00:00:00
abstract::In ataxia-telangiectasia (A-T) patients, mutations in a single gene, ATM, result in an autosomal recessive syndrome that embraces a variety of clinical features and manifests extreme radiosensitivity and a strong pre-disposition to malignancy. Heterozygotes for the ATM gene have no clinical expression of A-T but may b...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050634
更新日期:1997-12-01 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
pub_type: 杂志文章
doi:10.1007/s00439-014-1436-2
更新日期:2014-07-01 00:00:00
abstract::Fragile sites are nonrandom, heritable sites on chromosomes that can be induced to form gaps, breaks, and rearrangements under specific conditions. There is currently no established criterion to define a common fragile site. We applied seven published criteria to our data from three groups of subjects: (1) three pairs...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00194217
更新日期:1990-10-01 00:00:00
abstract::Complementation studies of steroid sulphatase were carried out in the heterokaryon population of fibroblasts derived from patients with X-linked ichthyosis and multiple sulphatase deficiency. The activity of steroid sulphatase of the fused cell population was constantly higher (approximately 2-5 fold) than that of the...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295367
更新日期:1985-01-01 00:00:00
abstract::Studies on the segregation of the red blood cell determinant Xg in 12 families with X-linked inheritance of agammaglobulinemia (XLA) in 3-4 generations suggested linkage of Xg with XLA. One extensive pedigree of a Dutch family with XLA in eight generations was investigated for Xg and the quantitative polymorphism 12E7...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00292589
更新日期:1984-01-01 00:00:00
abstract::Neural tube defect disorders are developmental diseases that originate from an incomplete closure of the neural tube during embryogenesis. Despite high prevalence-1 out of 3000 live births-their etiology is not yet established and both environmental and genetic factors have been proposed, with a heritability rate of a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-01993-y
更新日期:2019-04-01 00:00:00
abstract::Five live-born infants with Patau syndrome were studied for the nondisjunctional origin of the extra chromosome. Transmission modes of chromosomes 13 from parents to a child were determined using both QFQ- and RFA-heteromorphisms as markers, and the origin was ascertained in all of the patients. The extra chromosome h...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00418400
更新日期:1984-01-01 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::Buerger disease (BD) is an occulusive vascular disease of unknown etiology. Although cigarette smoking is a well-known risk factor of BD, genetic factors may also play a role in the etiology. Because chronic bacterial infection such as oral periodontitis is suggested to be involved in the pathogenesis of BD, gene poly...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0408-1
更新日期:2007-11-01 00:00:00
abstract::Since nine patients with infantile liver cirrhosis or hepatopathy associated with the Pi ZZ phenotype had been observed in recent years in the Children's Hospital of the University of Innsbruck, Tyrol, the distribution of the Pi types and the PiM subtypes was determined in the Tyrolean population. Apparently healthy b...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291545
更新日期:1983-01-01 00:00:00
abstract::Cowden disease is an autosomal dominant disorder associated with an elevated risk of breast, thyroid and skin cancers, in which germline mutations of a tumour suppressor gene (PTEN) have been identified. PTEN has a dual-specificity tyrosine phosphatase domain thought to be essential for tumour suppression. Previous ge...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000317
更新日期:2000-07-01 00:00:00
abstract::Adenine phosphoribosyltransferase (APRT) deficiency leading to 2,8-dihydroxyadenine (DHA) urolithiasis has been considered a rare cause of urolithiasis and renal insufficiency. We have examined samples from 19 Japanese families with DHA lithiasis. In 79% of the families, patients only partially lacked hemolysate APRT ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00591080
更新日期:1987-02-01 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
pub_type: 杂志文章
doi:10.1007/s00439-014-1478-5
更新日期:2015-01-01 00:00:00
abstract::The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(p...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285168
更新日期:1989-10-01 00:00:00
abstract::Using dual-laser sorted chromosomes and spot-blot analysis, we have previously assigned genomic DNA sequences coding for human alpha 1 (IV) procollagen to chromosome 13 (Pihlajaniemi et al. 1985). By in situ hybridization to normal chromosomes and chromosomes with 13q deletions, we now report the localization of this ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282074
更新日期:1986-10-01 00:00:00
abstract::Whole genome sequencing (WGS) was performed to identify the variants responsible for inherited retinal degeneration (IRD) in a Caucasian family. Segregation analysis of selected rare variants with pathogenic potential identified a set of compound heterozygous changes p.Arg266*:c.796C>T and p.Ala568Thr:c.1702G>A in the...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1897-9
更新日期:2018-07-01 00:00:00
abstract::We have investigated the organization and genomic distribution of sequences homologous to p82H, a cloned human alpha satellite sequence purported, based on previous in situ hybridization experiments, to exist at the centromere of each human chromosome. We report here that, using Southern blotting analysis under condit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291229
更新日期:1988-01-01 00:00:00
abstract::The author engages in further debate between numerous signatories of a letter who disputes that the author has put forward that the anticipated benefits of a personalised program for cancer prevention and screening are unwarranted. In the event that a cancer screening program is an effective means of mortality reducti...
journal_title:Human genetics
pub_type: 信件
doi:10.1007/s00439-019-01981-2
更新日期:2019-03-01 00:00:00
abstract::Chromosomal region 17q12-q21 is one of the best-replicated genome-wide association study (GWAS) hits and associated with childhood-onset asthma. However, the mechanism by which the genetic association is restricted to childhood-onset disease is unclear. During childhood, more boys than girls develop asthma. Therefore,...
journal_title:Human genetics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00439-013-1298-z
更新日期:2013-07-01 00:00:00
abstract::Several studies have reported that a variant allele (S2) of the apolipoprotein (apo) A-I/C-III/A-IV complex is associated with hyperlipoproteinemia in some populations and that the frequency of this allele is two- to fivefold higher in patients with premature coronary heart disease (CHD) than in healthy controls. In t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00225084
更新日期:1995-01-01 00:00:00
abstract::We have previously identified a mutation in the gene for methylmalonyl CoA mutase in a patient with the mut- phenotype of methylmalonic aciduria. This mutation (G717V) interferes with the binding of the deoxyadenosylcobalamin cofactor to the apoenzyme producing a mutant holoenzyme that is defective, but not completely...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220536
更新日期:1992-05-01 00:00:00
abstract::Wegener's granulomatosis (WG) is a systemic disease with complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis and the presence of antineutrophil cytoplasmatic autoantibodies (C-ANCAs) in sera of patients. Here...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1092-z
更新日期:2004-04-01 00:00:00
abstract::A fragile site on chromosome 12, at 12q24.13, was found in the lymphocytes of two members of a family during the study for detection of a fragile X chromosome. The site was found to be heritable and folate-sensitive, and it fulfills all four criteria for a fragile site. It thus can now be confirmed as the heritable fr...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273829
更新日期:1987-01-01 00:00:00
abstract::A homozygous gene deletion of the glutathione S-transferase M1 (GSTM1) locus of genomic DNA from blood spots was studied by the polymerase chain reaction in a group of French heavy smokers (n = 361), which included patients with severe chronic bronchitis (SCB; n = 87), moderate chronic bronchitis (MCB: n = 102) and ha...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050455
更新日期:1997-06-01 00:00:00
abstract::Different populations suffer from different rates of obesity and type-2 diabetes (T2D). Little is known about the genetic or adaptive component, if any, that underlies these differences. Given the cultural, geographic, and dietary variation that accumulated among humans over the last 60,000 years, we examined whether ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0935-z
更新日期:2011-04-01 00:00:00
abstract::Silver-stained cells from 49 parents with a history of several abortions were compared with cells from 35 parents with normal liveborn children. The modal and mean number of silver-stained NORs (Ag-NORs) observed on D- or G-group chromosomes was similar in both groups and between males and females. Ag-NORs were random...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286905
更新日期:1979-04-27 00:00:00
abstract::As evidenced by a large pedigree with 21 affected members, acrokeratoelastoidosis (AKE) is an autosomal dominant skin disease (10185; McKusick 1978). Linkage with genetic markers already assigned to human chromosomes could help to map the gene for this disease. Therefore 22 markers were investigated in 61 members of t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284653
更新日期:1983-01-01 00:00:00
abstract::The vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence. Consequently, the coding region of the aquaporin-2 gene including the exon-intron junctions was se...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050264
更新日期:1996-11-01 00:00:00
abstract::Six polymorphic restriction enzyme sites in the beta-globin gene cluster were investigated in Yanomama Indians from the Amazon region of Brazil, using the polymerase chain reaction (PCR) technique. Four haplotypes were identified; the haplotype frequency distribution is similar to those reported for Polynesians, Micro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00221952
更新日期:1992-08-01 00:00:00