Abstract:
:Experiments have been performed to determine whether human lymphocytes in primary cultures can show an "adaptive" response to the induction of cellular lesions (manifested as a production of sister chromatid exchanges, SCEs) as previously found in bacteria and established human and mammalian cell lines. Human lymphocytes were pretreated with various subtoxic concentrations (5-50 ng/ml) of N-methyl-N'-nitro-N-nitrosoguanidine (MNNG) once every 6h for 72 h, and subsequently challenged by a high dose (4 micrograms/ml) of MNNG. The lymphocytes in MNNG-challenged cultures had the lowest frequency of SCEs when pretreated with 10 ng/ml MNNG. Further cross-resistance study revealed that repeated pretreatments of lymphocytes with 10 ng/ml MNNG for 72 h can render the cells resistant to the induction of SCEs by the following challenge with a high dose of MNNG, but not of mitomycin C or ethyl nitrosourea. The data also suggest variations in the degree of the adaptation-like response among individuals.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Morimoto K,Sato-Mizuno M,Koizumi Adoi
10.1007/BF00292670subject
Has Abstractpub_date
1986-05-01 00:00:00pages
81-5issue
1eissn
0340-6717issn
1432-1203journal_volume
73pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Eukaryotic genomes contain 5-methylcytosine (5mC) as a rare base.5mC arises by postsynthetic modification of cytosine and occurs, at least in animals, predominantly in the dinucleotide CpG. The base is not distributed randomly in these genomes but conforms to a pattern. This pattern varies between taxa but appears to ...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00292363
更新日期:1983-01-01 00:00:00
abstract::A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q--syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated loss of the most di...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281894
更新日期:1976-07-27 00:00:00
abstract::Densitometric C-band measurements in chromosomes 1, 9, and 16 of 394 Indians and 40 Caucasoids living in Brazil are reported. No significant intratribal variability in the average length of these regions was observed, and the intertribal variation showed no consistent patterns. But the Caucasoids always presented lowe...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271168
更新日期:1981-01-01 00:00:00
abstract::Mutations in the cystic fibrosis (CF) conductance transmembrane regulator (CFTR) gene have been detected in patients with CF and in males with infertility attributable to congenital bilateral absence of the vas deferens (CBAVD). Thirty individuals with CBAVD and 10 with congenital unilateral absence of the vas deferen...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00209403
更新日期:1995-02-01 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::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
pub_type: 杂志文章
doi:10.1007/s004390050727
更新日期:1998-04-01 00:00:00
abstract::Results obtained so far on the C3 polymorphism suggest that the system should be a valuable marker in population studies. The instability of the complement component C3 may, however, cause some practical problems in population genetic fieldwork, since a certain fraction of serum samples may be difficult to type with c...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00286844
更新日期:1976-08-30 00:00:00
abstract::A segregation analysis on 135 Duchenne families from Venetia (Italy) suggests that the proportion of sporadic cases might be less than expected. Support for this view is also given by an analysis of a pooled sample including 284 additional sibships from comparable studies published previously. Several hypotheses were ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291351
更新日期:1984-01-01 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::Coffin-Lowry syndrome (CLS) is a syndromic form of mental retardation caused by loss of function mutations in the X-linked RPS6KA3 gene, which encodes RSK2, a serine/threonine kinase acting in the MAPK/ERK pathway. The mouse invalidated for the Rps6ka3 (Rsk2-KO) gene displays learning and long-term spatial memory defi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0918-0
更新日期:2011-03-01 00:00:00
abstract::Recently it has been reported that recombination hotspots appear to be highly variable between humans and chimpanzees, and there is evidence for between-person variability in hotspots, and evolutionary transience. To understand the nature of variation in human recombination rates, it is important to describe patterns ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0391-6
更新日期:2007-11-01 00:00:00
abstract::The delta F508 mutation and cystic fibrosis (CF) haplotypes with the markers KM19, pMP6d-9 and J3.11 are described in 54 adult British CF patients. delta F508 was found on 70% of all CF chromosomes, on none of the normal chromosomes and on only 37.5% of pancreatic sufficient CF chromosomes. All patients with meconium ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02428295
更新日期:1990-09-01 00:00:00
abstract::We conducted an association study to identify risk variants for familial prostate cancer within the HPCX locus at Xq27 among Americans of Northern European descent. We investigated a total of 507 familial prostate cancer probands and 507 age-matched controls without a personal or family history of prostate cancer. The...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-008-0486-8
更新日期:2008-05-01 00:00:00
abstract::By screening 27 hypercalcaemic and 21 normocalcaemic subjects in a large Dutch pedigree with familial benign hypercalcaemia (FBH; McK. No. 14598) (McKusick 1983) for more than 35 genetic markers, it was found that linkage of FBH can be excluded at about 25 centimorgans (cM) from GM, 20 cM from ABO, 15 cM from MNS and ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291409
更新日期:1984-01-01 00:00:00
abstract::Only two genome-wide association (GWA) screens have been published for melanoma (Nat Genet 47:920-925, 2009; Nat Genet 40:838-840, 2008). Using a unique approach, we performed a genome-wide association study in 156 related melanoma cases from 34 high-risk Utah pedigrees. Genome-wide association analysis was performed ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1048-z
更新日期:2012-01-01 00:00:00
abstract::Single nucleotide polymorphisms (SNPs) can significantly contribute to the characterization of the genes predisposing to iron overloads or deficiencies. We report an SNP survey of coding and non-coding regions of eight genes involved in iron metabolism, by two successive methods. First, we made use of the public domai...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100599
更新日期:2001-10-01 00:00:00
abstract::One of the many potential uses of the HapMap project is its application to the investigation of complex disease aetiology among a wide range of populations. This study aims to assess the transferability of HapMap SNP data to the Spanish population in the context of cancer research. We have carried out a genotyping stu...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-005-0094-9
更新日期:2006-02-01 00:00:00
abstract::DNA haplotype constellations of the beta-globin gene cluster have been analyzed in German families with hemoglobinopathies (Hb Freiburg, Hb Köln, Hb Presbyterian) and beta-thalassemias. The polymorphic patterns obtained were compared to those found in families from Greece, Italy, and Turkey affected by beta-thalassemi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284577
更新日期:1985-01-01 00:00:00
abstract::The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291506
更新日期:1976-05-19 00:00:00
abstract::Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population. The distribution of affected probands shows a likely center of diffusion f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00207048
更新日期:1992-04-01 00:00:00
abstract::Two single point mutations in the alpha-1-antitrypsin gene, resulting in AAT deficiency, have been characterised in heterozygotes by DNA amplification and direct sequencing. The mutations result in amino acid substitutions, Gly115----Ser and Ser-19----Leu, in the leader sequence, respectively, and have been designated...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00194233
更新日期:1990-10-01 00:00:00
abstract::There have been a number of genome-wide linkage studies for adult height in recent years. These studies have yielded few well-replicated loci, and none have been further confirmed by the identification of associated gene variants. The inconsistent results may be attributable to the fact that few studies have combined ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0305-z
更新日期:2007-04-01 00:00:00
abstract::It has been reported that studies of the genetic consequences of inbreeding should adopt a different strategy in populations having a relatively old inbreeding history and where inbreeding levels have varied over time. This contention is tested with a series of 39,495 single-birth records from Bombay, India, collected...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00390435
更新日期:1977-04-07 00:00:00
abstract::Polyclonal antibodies were obtained from rabbits by injection of iduronate sulfatase purified 35,000-fold from human placenta, after elution of the enzyme from sodium dodecyl sulfate (SDS) polyacrylamide gels. The specificity of these antibodies towards iduronate sulfatase was demonstrated by immunoprecipitation of en...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281065
更新日期:1987-03-01 00:00:00
abstract::A total of 362 males from various regions of Papua New Guinea were screened for red cell glucose-6-phosphate dehydrogenase (G6PD) activity. Twenty-six G6PD deficient individuals were identified. Biochemical characterization of G6PD purified from these subjects has revealed 13 new variants and several copies of previou...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00569710
更新日期:1982-01-01 00:00:00
abstract::The most commonly accepted view about the origin of aneuploidy is that it is due to errors in meiotic division. However, its rare occurrence makes it difficult to explain recurrent births of trisomic children to some parents. This problem causes more serious concern when one accepts that an abnormal (n + 1 or n - 1) s...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286609
更新日期:1984-01-01 00:00:00
abstract::Pericentromeric regions of human chromosomes are preferential sites for the integration of duplicated DNA, or "duplicons", which often contain gene fragments. Although pericentromeric regions appear to be genomic junkyards, they could also be the birthplace of new genes with novel functions. We have characterized a ch...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0827-y
更新日期:2003-01-01 00:00:00
abstract::We wished to determine the time of pregnancy at which optimal numbers of nucleated red blood cells (NRBC) are present in maternal blood. Because 30% of the NRBC in maternal blood are fetal, there are implications for prenatal screening and diagnosis. Samples of whole blood were collected from each of 225 women at vari...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050898
更新日期:1998-12-01 00:00:00
abstract::The majority of constitutional reciprocal translocations appear to be unique rearrangements arising from independent events. However, a small number of translocations are recurrent, most significantly the t(11;22)(q23;q11). Among large series of translocations there may be multiple independently ascertained cases with...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-008-0611-8
更新日期:2009-03-01 00:00:00
abstract::The X-linked cyclin-dependent kinase-like 5 (CDKL5) gene is an important molecular determinant of early-onset intractable seizures with infantile spasms and Rett syndrome-like phenotype. The gene encodes a kinase that may influence components of molecular pathways associated with MeCP2. In humans there are two previou...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1058-x
更新日期:2012-02-01 00:00:00