Abstract:
:Ethyl methanesulfonate induced several times as many sister chromatid exchanges (SCE's) in lymphocytes from individuals affected with Bloom's syndrome as in lymphocytes from controls or heterozygotes. In cultures of cells from an individual with Bloom's syndrome who had two populations of lymphocytes circulating in his blood--'low' cells having normal spontaneous frequencies of SCE's and 'high' cells having elevated frequencies--only the high cells showed the increased sensitivity to ethyl methanesulfonate.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Krepinsky AB,Heddle JA,German Jdoi
10.1007/BF00390236subject
Has Abstractpub_date
1979-01-01 00:00:00pages
151-6issue
2eissn
0340-6717issn
1432-1203journal_volume
50pub_type
杂志文章相关文献
HUMAN GENETICS文献大全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::A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, "antimongoloid", character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270866
更新日期:1976-03-12 00:00:00
abstract::Polymorphism of the human c-Ha-ras-1 gene has been analysed in DNA from 168 individuals using the enzymes MspI and HpaII. In all, 35 bladder cancer patients, 28 melanoma patients, 22 Wilms' tumour patients, 24 first-degree relatives of Wilms' tumour or melanoma patients and 59 unaffected controls were studied. A total...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278178
更新日期:1988-02-01 00:00:00
abstract::Germline mutations of the adenomatous polyposis coli ( APC) gene cause familial adenomatous polyposis (FAP), an autosomal, dominantly inherited disease that predisposes patients to colorectal cancer. The APC gene is composed of 15 coding exons and encodes an open reading frame of 8.5 kb. The 3' 6.5 kb of the APCopen r...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0758-7
更新日期:2002-07-01 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::DNA patterns from a pseudoautosomal variable number tandem repeat-like minisatellite (locus DXYS20) were compared in two samples: a Caucasian and a Black sample. We defined 3 types of DNA patterns named A, B and C, and found that these patterns have different frequencies in the Caucasian and Black groups. A set of all...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00219347
更新日期:1992-03-01 00:00:00
abstract::Serum samples from 170 unrelated individuals from the Suceava District of Roumania and from 199 unrelated individuals from Bucharest, Roumania were tested fro Gm(1,2,3,5,6,13,14,17,21) and Km(1)[Inv(1)]. Selected samples were also tested for Gm(15) and Gm(16). The frequencies of the three common Caucasoid haplotypes, ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00287012
更新日期:1977-11-10 00:00:00
abstract::Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of D4Z4 repeat on 4q35. It displays a remarkable inter- and intra-familial clinical variability ranging from severe phenotype to asymptomatic carriers. Mosaicism for the contracted FSHD-sized allele is a recurrent finding,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-0100-2
更新日期:2006-03-01 00:00:00
abstract::A method is described for large scale routine phenotyping of haptoglobin (Hp) which allows complete subtyping without prior purification of the Hp molecule. The procedure includes polyacrylamide gel isoelectric focusing of reduced, neuraminidase treated serum or plasma samples, and nitrocellulose blots developed with ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273075
更新日期:1985-01-01 00:00:00
abstract::Two cases of a pericentric inversion of chromosome 2 were found amongst 3619 blood specimens referred for karyotypic analysis. An additional three cases were identified within 1820 pregnancies presenting for genetic amniocentesis because of late maternal age. The implications for management in these cases are discusse...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293042
更新日期:1985-01-01 00:00:00
abstract::Although several studies have demonstrated familial aggregation of nonsyndromic cleft palate (CP), the mode of inheritance still remains uncertain. We report the results of complex segregation analysis performed in families of 357 consecutive newborns affected with nonsyndromic CP (i.e., CP not a component feature of ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050491
更新日期:1997-08-01 00:00:00
abstract::The possible influence of the fragile X mutation at Xq27 on the expression of the neighbouring gene (at Xq26) for hypoxanthine phosphoribosyl transferase (HPRT) was studied by determination of the levels of HPRT-RNA and HPRT enzyme activity in fibroblast cell cultures from 7 fragile X patients. These levels were lower...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00197177
更新日期:1991-08-01 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
pub_type: 杂志文章
doi:10.1007/s004390000265
更新日期:2000-04-01 00:00:00
abstract::To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 yea...
journal_title:Human genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s00439-014-1500-y
更新日期:2015-02-01 00:00:00
abstract::A hereditary disease with excess mortality such as haemophilia is maintained in the population by the occurrence of new cases, i.e. mutations. In haemophilia, mutations may arise in female or male ancestors of a 'new' patient. The ratio of the mutation frequencies in males over females determines the prior risk of car...
journal_title:Human genetics
pub_type: 杂志文章,meta分析
doi:10.1007/BF00197695
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::Pathogenic mutations in TMPRSS3, which encodes a transmembrane serine protease, cause non-syndromic deafness DFNB8/10. Missense mutations map in the low density-lipoprotein receptor A (LDLRA), scavenger-receptor cysteine-rich (SRCR), and protease domains of the protein, indicating that all domains are important for it...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1332-x
更新日期:2005-10-01 00:00:00
abstract::A new procedure for determining the chromosomal origin of marker chromosomes has been carried out. The origin of marker chromosomes that were unidentifiable by standard banding techniques could be verified by reverse chromosome painting. This technique includes microdissection, followed by in vitro DNA amplification a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201567
更新日期:1994-06-01 00:00:00
abstract::The activity of complex I of the mitochondrial respiratory chain has been found to be decreased in patients with Parkinson's disease (PD), but no mutations have been identified in genes encoding complex I subunits. Recent studies have suggested that polymorphisms in mitochondrial DNA (mtDNA)-encoded complex I genes (M...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1123-9
更新日期:2004-06-01 00:00:00
abstract::Recent studies of the corneal dystrophies (CDs) have shown that most cases of granular CD, Avellino CD, and lattice CD type I are caused by mutations in the human transforming growth factor beta-induced (TGFBI) gene. The aim of this study was to develop a rapid diagnostic assay to detect mutations in the TGFBI gene. S...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1269-0
更新日期:2005-05-01 00:00:00
abstract::PTEN is one of the most frequently mutated tumor suppressor genes in human cancers. Mutations occur in either heritable or sporadic fashion. Sequencing of cDNA from patients and normal individuals often reveals splicing variants (SVs) of PTEN, some of which are non-mutation related. To investigate whether these SVs we...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0886-4
更新日期:2010-12-01 00:00:00
abstract::Ten restriction fragment length polymorphisms of the LDL receptor gene were used for haplotype analysis in 12 unrelated patients with homozygous familial hypercholesterolemia. These patients were drawn from the Black, Coloured, and White population groups and collectively represent 24 mutant alleles underlying the FH ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274151
更新日期:1989-08-01 00:00:00
abstract::Increased levels of retinol binding protein 4 (RBP4) in serum is associated with insulin resistance. To examine this further, the genomic region of RBP4 was genetically surveyed in Mongolian people, who as a group are suffering from a recent rapid increase in diabetes. The RBP4 gene was screened by DHPLC system, and t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0264-4
更新日期:2007-02-01 00:00:00
abstract::Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-1039-9
更新日期:2004-01-01 00:00:00
abstract::Development of protective immunity against Plasmodium falciparum is partially mediated through binding of malaria-specific IgG to Fc gamma (γ) receptors. Variations in human FcγRIIA-H/R-131 and FcγRIIIB-NA1/NA2 affect differential binding of IgG sub-classes. Since variability in FcγR may play an important role in seve...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1076-8
更新日期:2012-02-01 00:00:00
abstract::In this study, we performed an in-depth analysis of the neurologic and ophthalmologic phenotype in a patient with Pitt-Hopkins syndrome (PTHS), a disorder characterized by severe mental and motor retardation, carrying a uniallelic TCF4 deletion, and studied a zebrafish model. The PTHS-patient was characterized by high...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-0999-4
更新日期:2011-11-01 00:00:00
abstract::Rapid progress in the sequencing of the genome of man and other species allows for the comparative analysis of their genetic structure and content. We have used a combined biochemical and computer-based approach to characterize a 146 kb human genomic bacterial artificial chromosome clone from chromosome 5q13 and disco...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-001-0610-5
更新日期:2001-11-01 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::Linkage data for familial incontinentia pigmenti (IP2) and nine X chromosomal markers are reported. Previously found linkage between IP2 and the DXS52 locus is confirmed with the maximum lod score of 6.19 at a recombination fraction of 0.03. Linkage is also established with loci DXS134, DXS15 and DXS33. Multipoint ana...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00202414
更新日期:1991-01-01 00:00:00
abstract::To improve the analysis of parentage testing with the additional technique of DNA polymorphisms, the usefulness of probe YNH24 was studied. The allele frequency distribution of restriction fragments detected by probe YNH24 on TaqI-digested genomic DNA from 100 unrelated individuals was determined. For this purpose, th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00196240
更新日期:1990-03-01 00:00:00