Abstract:
:EagI and NotI linking libraries were prepared in the lambda vector, EMBL5, from the mouse-human somatic cell hybrid 1W1LA4.9, which contains human chromosomes 11 and Xp as the only human component. Individual clones containing human DNA were isolated by their ability to hybridise with total human DNA and digested with SalI and EcoRI to identify the human insert size and single-copy fragments. The mean (+/- SD) insert sizes of the EagI and NotI clones were 18.3 +/- 3.2 kb and 16.6 +/- 3.6 kb, respectively. Regional localisation of 66 clones (52 EagI, 14 NotI) was achieved using a panel of 20 somatic cell hybrids that contained different overlapping deletions of chromosomes 11 or Xp. Thirty-nine clones (36 EagI, 3 NotI) were localised to chromosome 11; 17 of these were clustered in 11q13 and another nine were clustered in 11q14-q23.1. Twenty-seven clones (16 EagI, 11 NotI) were localised to Xp and 10 of these were clustered in Xp11. The 66 clones were assessed for seven different microsatellite repetitive sequences; restriction fragment length polymorphisms for five clones from 11q13 were also identified. These EagI and NotI clones, which supplement those previously mapped to chromosome 11 and Xp, should facilitate the generation of more detailed maps and the identification of genes that are associated with CpG-rich islands.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Pook MA,Thakrar R,Pottinger B,Harding B,Porteous D,van Heyningen V,Cowell J,Jones C,Povey S,Davies KE,Thakker RVdoi
10.1007/BF02346183subject
Has Abstractpub_date
1996-06-01 00:00:00pages
742-9issue
6eissn
0340-6717issn
1432-1203journal_volume
97pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Eight polymorphic restriction enzyme sites at the phenylalanine hydroxylase (PAH) locus were analyzed from the parental chromosomes in 33 Danish nuclear families with at least one phenylketonuric (PKU) child. Determination of haplotypes of 66 normal chromosomes and 66 chromosomes bearing mutant allele(s) demonstrated ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283048
更新日期:1987-05-01 00:00:00
abstract::The concept and role of endomitosis is reevaluated in the light of observations on three organisms. Endomitosis which morphologically agrees with Geitler's (1939) classical definition is compared in tapetal cells of the liliaceous plant Eremurus, in the septal cells of the testicular follicles of the grasshopper Melan...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285390
更新日期:1983-01-01 00:00:00
abstract::We investigated whether the amount of circulating cell-free fetal DNA in maternal serum is influenced by fetal karyotype, using real-time quantitative polymerase chain reaction assay. Serum samples were obtained from pregnant women at gestational ages ranging from 15 to 17 weeks, prior to their undergoing amniocentesi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100457
更新日期:2001-02-01 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::A locus (CPX) responsible for X-linked cleft palate and ankyloglossia was previously mapped to the proximal long arm of the X chromosome through DNA marker linkage studies in two large kindred: an Icelandic family and a British Columbia (B.C.) Native family. In this study, additional linkage analyses have been perform...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00202859
更新日期:1994-08-01 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 identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ hybridization (FISH) with "whole chromosome painting" probes derived from c...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00420933
更新日期:1993-12-01 00:00:00
abstract::Deletions in 17q11.2 affecting the NF1 gene and surrounding regions occur in 5% of patients with NF1. The two major types of NF1 deletions encompass 1.4-Mb and 1.2-Mb, respectively, and have breakpoints in the NF1 low-copy repeats or in the JJAZ gene and its pseudogene. Deletions larger than 1.4-Mb are rare, and only ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1265-4
更新日期:2005-05-01 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::Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous mutations of the SMN1 gene. SMN1 interacts with multiple proteins with functions in snRNP biogenesis, pre-mRNA splicing and presumably neural transport. SMN2, a nearly identical copy of SMN1, produces predominantly exon 7-skipped t...
journal_title:Human genetics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00439-003-1025-2
更新日期:2003-12-01 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::The most common form of chronic granulomatous disease (CGD) is caused by mutations in the CYBB gene that is carried on the X-chromosome and give rise to the X-linked form of the disease. The product of this gene is the large subunit of flavocytochrome b558, gp91phox, the catalytic core of the superoxide-generating enz...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100551
更新日期:2001-08-01 00:00:00
abstract::Three human chromosome 9-specific cosmid recombinants containing (CA)n microsatellites are described. Three microsatellite loci, D9S970, D9S971, and D9S972, were observed to have heterozygosities of 0.78, 0.84, and 0.82, respectively. Subchromosomal localizations were determined by R-banding and fluorescence in situ h...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00207389
更新日期:1995-08-01 00:00:00
abstract::Mutation accumulation has been proposed as a cause of senescence. During this process, age-related genetic and epigenetic mutations steadily accumulate. Cascading deleterious effects of mutations might initiate a steady "accumulation of deficits" in cells, despite the existence of repair mechanisms, leading to cellula...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02067-9
更新日期:2020-03-01 00:00:00
abstract::In order to approach preimplantation testing for the fragile-X syndrome, we used genotyping of the polymorphic RS46(DXS548) locus closely linked to the FMR-1 gene, in single reproductive cells of females. The RS46(DXS548) amplification was adjusted to the single cell level by a two-round polymerase chain reaction (PCR...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210416
更新日期:1995-09-01 00:00:00
abstract::Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here, we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5' end of TRPS1. Based on the additional abn...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1333-0
更新日期:2013-11-01 00:00:00
abstract::Superoxide, which mitochondria mainly produce in vascular endothelial cells, plays an important role in the pathogenesis of atherosclerosis and coronary artery disease. Accordingly, mitochondrial functional differences are thought to be one of the most important factors for the risk of myocardial infarction among vari...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0269-z
更新日期:2007-02-01 00:00:00
abstract::Familial long QT syndrome (LQTS) is characterized by prolonged ventricular repolarization. Clinical symptoms include recurrent syncopal attacks, and sudden death may occur as a result of ventricular tachyarrhythmias. Three genes responsible for this syndrome (KVLQT1, HERG, and SCN5A) have been identified so far, and m...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050717
更新日期:1998-04-01 00:00:00
abstract::The genetic types of the properdin factor B were analyzed by isoelectric focusing on polyacrylamide gels and subsequent immunofixation. Sera from 516 unrelated, healthy individuals from Southern Germany were examined. Two new subtypes of the Bf*S allele were observed. They were provisionally named Bf*Sb1 and Bf*Sb2(b ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293880
更新日期:1984-01-01 00:00:00
abstract::A reciprocal translocation involving chromosomes Nos. 3 and 22 has been found in a patient with seemingly Ph-negative chronic myelogenous leukemia (CML). G-band analysis revealed, that deletion in No. 22 occurred at the same point, as in the typical cases of the disease. It was concluded, that breakage in No. 22 at a ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291511
更新日期:1976-05-19 00:00:00
abstract::COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (DFNA9) via a gain-o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02197-5
更新日期:2020-12-01 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::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::Seven nucleotide sequence polymorphisms were detected within exons of the low-density lipoprotein (LDL) receptor gene using single-strand conformation polymorphism (SSCP) analysis followed by direct sequence analysis on amplified DNA. Four nucleotide changes at nucleotide positions 1617, 1725, 2232, and 2635 were new ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00216148
更新日期:1993-08-01 00:00:00
abstract::A polymorphic BamHI site was located in the coding region of the human T cell receptor delta gene TCRDV2. Two alleles defined by the absence or the presence of the BamHI site were detected by the polymerase chain reaction. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00216155
更新日期:1993-08-01 00:00:00
abstract::Holoprosencephaly (HPE) is a common forebrain malformation associated with mental retardation and craniofacial anomalies. Multiple lines of evidence indicate that loss of ventral neurons is associated with HPE. The condition is etiologically heterogeneous, and abnormalities in any of several genes can cause human HPE....
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0950-4
更新日期:2003-07-01 00:00:00
abstract::The selective staining of a single butyrylesterase, following isoelectric focusing of red cell lysates from 14 mammalian species, including man, was achieved using the chromogenic substrate N-acetyl-L-alanine-alpha-naphthyl ester. This procedure optimized the identification of this enzyme, and a close correspondence o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284657
更新日期:1983-01-01 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::The identification of a novel CYP2D6 allele from a healthy Caucasian poor metabolizer was achieved by using a previously described polymerase chain reaction/single-strand conformation polymorphism strategy. Among the four point mutations that this allele carries, a missense mutation in exon 1 (212 G-->A or D6-H) seems...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02281880
更新日期:1996-05-01 00:00:00
abstract::Among the different subtypes of Ehlers-Danlos syndrome (EDS), the dominant types I-III have, so far, been uninformative biochemically and molecular genetically, and diagnostic problems with subgroup boundaries often arise. We have investigated the ultrastructural pattern of connective tissue macromolecules in skin bio...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201664
更新日期:1994-04-01 00:00:00