Abstract:
:Single-copy DNA sequences defining several pseudoautosomal loci on the human sex chromosomes are shown to be highly conserved in the genome of the chimpanzee. Segregation analysis of polymorphic pseudoautosomal probes in a chimpanzee pedigree revealed that the transmission of the paternal alleles was not strictly sex-linked. In situ hybridization localized the pseudoautosomal probe 29C1 specifically to Xp22-Xpter and to Yq12.2-Yqter on the chimpanzee sex chromosomes. Thus, our results demonstrate the existence of homologous segments on the chimpanzee X and Y chromosomes, which regularly undergo recombinatory exchange in male meiosis. The chimpanzee is now the third mammalian species, besides man and mouse, in which there is genetic evidence for a pseudoautosomal segment on the sex chromosomes.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Weber B,Weissenbach J,Schempp Wdoi
10.1007/BF01790103subject
Has Abstractpub_date
1988-11-01 00:00:00pages
301-3issue
3eissn
0340-6717issn
1432-1203journal_volume
80pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::With the recent advances in genomic research, it has become apparent that a substantial part of human malformation and mental retardation is caused by imbalances in genomic content. Thus, there is an increasing need for versatile methods allowing a detailed mapping and cloning of the actual rearrangements. We have com...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1174-y
更新日期:2004-11-01 00:00:00
abstract::We present a simple rapid reproducible polymerase chain reaction based technique, termed amplified product length polymorphism (APLP), as a new strategy for primer design for ABO genotyping. The method involves the use of primers differing in length and permits the identification of the major ABO genotypes (A1, A2, B,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050306
更新日期:1997-01-01 00:00:00
abstract::In the present paper an intercalary deletion of band 8q23 is reported in another patient with Langer-Giedion syndrome. These data confirm that the deletion in 8q responsible for this malformation syndrome is located at band 8q23. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00327126
更新日期:1983-01-01 00:00:00
abstract::Genome-wide association studies (GWAS) have identified a large number of disease-associated SNPs, but in few cases the functional variant and the gene it controls have been identified. To systematically identify candidate regulatory variants, we sequenced ENCODE cell lines and used public ChIP-seq data to look for tra...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1654-x
更新日期:2016-05-01 00:00:00
abstract::Some missense changes are compatible with normal protein function while others compromise essential aspects of protein maturation, specific activity, or stability. For those missense changes that alter function in the intact organism, how likely is it for the mutated protein to retain appreciable residual activity? By...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220543
更新日期:1992-05-01 00:00:00
abstract::A protocol is reported which allows the efficient induction of bromodeoxyuridine (BrdU)-induced R-type replication patterns in fibroblast cultures prepared to demonstrate the fragile site fra(X)(q27). The technique includes partial synchronization of the culture by fluorodeoxyuridine (FdU) blocking at the G1/S transit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285034
更新日期:1983-01-01 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::The geographical distribution and prevalence of 256 single base-pair substitutions (105 of them being different) within the coding region of the human protein C (PROC) gene were correlated with their initial likelihoods of generation. A significant positive correlation was observed between these "mutational likelihood...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00207369
更新日期:1995-08-01 00:00:00
abstract::We studied the frequency of an SstI polymorphism in 70 patients with chronic B-cell leukaemia (CLL) and 100 normal controls. There was a highly significant difference in the distribution of the three genotypes between the CLL patients and the normal controls (chi 2 = 13.46, 2 df, P < 0.001). The C2 allele was found mo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00217361
更新日期:1993-05-01 00:00:00
abstract::Although a large number of human serum transferrin (TF) variants have been described, only one RFLP (AvaI) has so far been found. Here we report three new RFLPs (MvaI in intron 5 and exon 7, BbvI in exon 7) and correlations between RFLPs and between RFLPs and serum TF types. There were strong, but not always complete,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050667
更新日期:1998-02-01 00:00:00
abstract::Forty cases of chronic myeloid leukemia (CML) were studied and subgroups of cases with similar chromosomal abnormalities in terminal stage were defined. Certain correlations were observed between the type of chromosomal changes, and clinical and morphologic manifestations of the disease: (1) It seems that, in cases wi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273096
更新日期:1978-03-17 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::While liability to schizophrenia (Scz) is due to genetic and environmental factors, specific factors are largely unknown. We postulate a two-hit model for Scz, in which initial liability is generated during fetal brain development: this "hit" is precipitated by environmental stressors biologically interacting with mat...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0358-7
更新日期:2007-07-01 00:00:00
abstract::This study was undertaken to evaluate the efficiency of flow cytometry in the detection of the serological H-Y antigen, and to survey expression of H-Y in the normal human population. Peripheral blood leukocytes (granulocytes) were reacted with monoclonal H-Y antibody, gw-16, and with FITC-conjugated goat anti-mouse I...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00276339
更新日期:1990-06-01 00:00:00
abstract::PIG-A, the gene encoding the glycoinositol phospholipid anchor synthetic element that is defective in paroxysmal nocturnal hemoglobinuria (PNH), resides on the X chromosome. In the course of analyses of PIG-A genetic alterations in PNH patients, polymerase chain reaction (PCR) amplification of reverse-transcribed RNA ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00209489
更新日期:1995-06-01 00:00:00
abstract::This paper gives the results of studies on the effects of malathion on human lymphocytes stimulated by PHA, including cell survival, chromosomal aberration and nucleic acid content. Increasing malathion doses (10-70 micrograms/ml) were introduced into cultures of human lymphotyes at different times relative to the tim...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00287059
更新日期:1980-01-01 00:00:00
abstract::Based upon aberrant segregation of glutamate pyruvate-transaminase (GPT) and reduced enzyme activity on electrophoresis, seven new families with a GPT null allele were identified during genetic linkage analysis for a number of different traits. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286652
更新日期:1983-01-01 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::Segregation analysis was performed in three families affected in X-linked agammaglobulinemia (XLA) with five polymorphic DNA probes linked to the disease locus. In agreement with previous studies, no recombination was observed with either pXG12 (DXS94) or S21 (DXS17). Segregation analysis was also performed with a mar...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210664
更新日期:1989-12-01 00:00:00
abstract::The sickle-cell gene contributes substantially to the presentation of anaemia in certain areas of the Arabian Peninsula. However, the clinical presentation of the homozygous state of Hb S is less severe than that observed in other ethnic groups, such as American negroes. In the present paper, biosynthesis studies perf...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278681
更新日期:1979-01-01 00:00:00
abstract::A sample of South African Negroids (n = 791) was scored for each individual's Bf and GLO phenotype. (The genes for the Bf and GLO olymorphisms are included in a known cluster of linked genes on chromosome 6.) Following a x2-test the respective two series of alleles were found to be disturbed at random, i.e., there was...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00527407
更新日期:1977-09-22 00:00:00
abstract::Field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA was used to demonstrate a 50-kb deletion in one allele of the gene encoding the beta subunit of human hexosaminidase (HEXB at 5q13) of two apparently unrelated patients with Sandhoff disease. In conventional electrophoretic restriction analysi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00279006
更新日期:1989-02-01 00:00:00
abstract::Five patients with hereditary elliptocytosis (HE) from two unrelated black families were studied. The patients had prominent elliptocytosis and a decreased erythrocyte resistance to heat treatment. In one infant blood smears showed elliptocytosis and poikilocytosis; his erythrocytes fagmented at a lower temperature th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00388462
更新日期:1985-01-01 00:00:00
abstract::The identification of genomic rearrangements involving more than 0.5 kb of the BRCA1 gene has confirmed a more complex mutation spectrum than was initially appreciated. Genomic rearrangements in BRCA1 represent 15% of all mutations in a group of French and American breast and ovarian cancer families and 36% of all mut...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000372
更新日期:2000-10-01 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
pub_type: 杂志文章
doi:10.1007/s00439-020-02162-2
更新日期:2020-08-01 00:00:00
abstract::Three prostate cancer susceptibility genes have been reported to be linked to different regions on chromosome 1: HPC1 at 1q24-25, PCAP at 1q42-43, and CAPB at 1p36. Replication studies analyzing each of these regions have yielded inconsistent results. To evaluate linkage across this chromosome systematically, we perfo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100488
更新日期:2001-04-01 00:00:00
abstract::Human height is a complex trait regulated by multiple genetic and environmental factors. CYP19 (cytochrome P450 19) encodes aromatase, which catalyses the rate-limiting step in the conversion of androgens to estrogens. Deleterious mutations in CYP19 can result in estrogen deficiency that will influence adult height to...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0199-9
更新日期:2006-08-01 00:00:00
abstract::Hypohaptoglobinaemia and ahaptoglobinaemia occurred in three generations, mainly to male members of a family. Also small amounts of haptoglobin were detected in most of the female relatives. Haemolytic anaemia seemed likely and the glucose 6 phosphate dehydrogenase (G.6.P.D.) activity was normal. The probable genotype...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00294926
更新日期:1981-01-01 00:00:00
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::We have calculated the relative frequency and the birth prevalence of lysosomal storage diseases (LSDs) in The Netherlands based on all 963 enzymatically confirmed cases diagnosed during the period 1970-1996. The combined birth prevalence for all LSDs is 14 per 100,000 live births. Glycogenosis type II is the most fre...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004399900075
更新日期:1999-07-01 00:00:00