Abstract:
:The human gene locus c-MEL was identified following transfection of genomic DNA from the human melanoma cell line NK14; it has previously been assigned to chromosome 19 (p13.2-q13.2) by analysis of somatic cell hybrids. We have further refined the position of this gene to the proximal region of 19p (cen-p13.2), using cell hybrids containing only fragments of human chromosome 19. We have confirmed this physical localisation by linkage analysis with a recently described restriction fragment length polymorphism for the c-MEL gene, and mapped the locus within the region of the low density lipoprotein receptor gene (LDLR) (Lod 4.43, theta = 0.10) and the anonymous marker D19S11 (13.1.25) (Lod 9.33, theta = 0). This gene thus maps to a region of chromosome 19 involved in karyotypic abnormalities in a variety of malignancies including melanomas and leukaemias.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Nimmo E,Padua RA,Hughes D,Brook JD,Williamson R,Johnson KJdoi
10.1007/BF00283697subject
Has Abstractpub_date
1989-03-01 00:00:00pages
382-4issue
4eissn
0340-6717issn
1432-1203journal_volume
81pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Multiple sclerosis (MS) is characterized as an autoimmune demyelinating disease. Numerous family studies have confirmed a strong genetic component underlying its etiology. After several decades of frustrating research, the advent and application of affordable genotyping of dense SNP maps in large data sets has ushered...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0789-4
更新日期:2010-03-01 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::A slight increase in mean corpuscular hemoglobin (MCH) has been reported in erythrocytes from human fragile X patients. As it is difficult to perform case-controlled studies in patients with fragile X syndrome, we studied MCH in erythrocytes from transgenic mice with an Fmr1 knockout. None of the knockout mice showed ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218832
更新日期:1996-01-01 00:00:00
abstract::Enzymatic DNA amplification and polyacrylamide gel electrophoresis, which demonstrate different sizes of DNA fragments, were used to detect the common mutations causing beta-thalassemia and hemoglobin (Hb) E in Thai people. The 4-bp deletion at codons 41 and 42 can be detected directly by polyacrylamide gel electropho...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274004
更新日期:1989-07-01 00:00:00
abstract::Swiss albino male mice were administered two doses (1 and 2 HA units) of influenza A2 Hong Kong/68 virus IP. The incidence of chromosomal anomalies in spermatocytes was analysed at various times post infection and was found to be significantly higher than in controls, indicating that the influenza virus had induced th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286960
更新日期:1978-12-18 00:00:00
abstract::Peer behaviour plays an important role in the development of social adjustment, though little is known about its genetic architecture. We conducted a twin study combined with a genome-wide complex trait analysis (GCTA) and a genome-wide screen to characterise genetic influences on problematic peer behaviour during chi...
journal_title:Human genetics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00439-014-1514-5
更新日期:2015-06-01 00:00:00
abstract::Research in the past two decades has generated unequivocal evidence that host genetic variations substantially account for the heterogeneous outcomes following human immunodeficiency virus type 1 (HIV-1) infection. In particular, genes encoding human leukocyte antigens (HLA) have various alleles, haplotypes, or specif...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1465-x
更新日期:2014-09-01 00:00:00
abstract::Genetic factors play important roles in the development of tuberculosis (TB). SP110 is a promising candidate target for controlling TB infections. However, several studies associating SP110 single nucleotide polymorphisms (SNPs) with TB have yielded conflicting results. This may be partly resolved by studying other ge...
journal_title:Human genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s00439-012-1244-5
更新日期:2013-03-01 00:00:00
abstract::A male newborn with a ring 10 chromosome is described. The distal part of the long arm of chromosome 10, deleted during ring formation (10q25), is translocated to the short arm of chromosome 19. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293602
更新日期:1978-08-31 00:00:00
abstract::Short tandem repeats are abundantly present within the genome. They are commonly used as polymorphic markers but their potential functional role is poorly documented. Several of these microsatellites have been described within the beta-globin locus and some could be involved in controlling gene expression. Our purpose...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050959
更新日期:1999-04-01 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::Male identical twins with r(18)/normal mosaicism are reported. Twin 1 has the characteristic manifestations of the r(18) syndrome, but twin 2 shows a normal phenotype. Cytogenetic study of cultured lymphocytes revealed that the proportions of r(18) are 19.7% and 19.2%, respectively. However in the fibroblast cultures,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00304559
更新日期:1982-01-01 00:00:00
abstract::During the last few years, much progress has been made in the treatment of lysosomal storage disorders. In the past, no specific therapy was available for the affected patients, and management consisted solely of supportive care and treatment of complications. Since enzyme replacement therapy has been successfully int...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-006-0280-4
更新日期:2007-03-01 00:00:00
abstract::Steroid sulfatase activities are significantly higher in placentas obtained after the birth of girls than after the birth of boys, and also in female fibroblasts compared to male strains. This constitutes biochemical evidence for the non-inactivation of the X-linked sulfatase locus. No hydrolytic activity is found in ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283675
更新日期:1981-01-01 00:00:00
abstract::Severe combined immunodeficiency (SCID) is caused by a variety of underlying defects. Approximately 40% of cases are thought to be of the X-linked type (SCIDX1), which is phenotypically characterised by the absence, or very low numbers, of T cells, but normal or even high B cell numbers. The gene responsible for SCIDX...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050428
更新日期:1997-05-01 00:00:00
abstract::A 45,X male individual was shown to have a translocation of Y-chromosome material to the short arm or proximal long arm of chromosome 15. This translocation was detected by genomic DNA blotting and in situ hybridization with Y-chromosome-specific DNA probes. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00280488
更新日期:1986-12-01 00:00:00
abstract::Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders that result in clinically apparent immune dysfunction. Although PIDs are classically considered as Mendelian disorders with complete penetrance, we now understand that absent or partial clinical disease is often noted in individua...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-020-02131-9
更新日期:2020-06-01 00:00:00
abstract::Eleven families segregating for the X-linked recessive immune deficiency disorder, Wiskott-Aldrich syndrome (WAS), were studied by linkage analysis with an alpha satellite DNA probe, pBamX-7, which detects polymorphisms at the X chromosome centromere, locus DXZ1, as well as three other polymorphic markers defining loc...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285161
更新日期:1989-10-01 00:00:00
abstract::Our understanding of the process of autophagy and its role in health and diseases has grown remarkably in the last two decades. Early work established autophagy as a general bulk recycling process which involves the sequestration and transport of intracellular material to the lysosome for degradation. Currently, autop...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-019-02031-7
更新日期:2020-03-01 00:00:00
abstract::Rubella virus causes a relatively benign disease in most cases, although infection during pregnancy can result in serious birth defects. An effective vaccine has been available since the early 1970s and outbreaks typically do not occur among highly vaccinated (≥2 doses) populations. Nevertheless, considerable inter-in...
journal_title:Human genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s00439-014-1471-z
更新日期:2014-11-01 00:00:00
abstract::We have studied the genetic linkage of two markers, the apolipoprotein C1 (APOC1) gene and a cytochrome P450 (CYP2A) gene, in relation to the gene for myotonic dystrophy (DM). A peak lod score of 9.29 at 2 cM was observed for APOC1-DM, with a lod score of 8.55 at 4 cM for CYP2A-DM. These two markers also show close li...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00206751
更新日期:1990-08-01 00:00:00
abstract::Hereditary nonpolyposis colorectal cancer (HN-PCC) is one of man's commonest hereditary diseases. Several studies have identified four responsible genes that are involved in a process known as DNA mismatch repair; hMSH2 is the most important of these four genes. In addition to mutational analysis of these genes, inves...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218844
更新日期:1996-01-01 00:00:00
abstract::Recently, the human orthologue to the cell cycle checkpoint genes rad17 (Schizosaccharomyces pombe) and RAD24 (Saccharomyces cerevisiae), called HRAD17, has been isolated and localized to chromosome 4. Independently, we have isolated the HRAD17 transcript and mapped it to chromosome 5q13 between the CCNB1 and BTF2p44c...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004399900067
更新日期:1999-07-01 00:00:00
abstract::Nitric oxide (NO) mediates host resistance to severe malaria and other infectious diseases. NO production and mononuclear cell expression of the NO producing enzyme-inducible nitric oxide synthase (NOS2) have been associated with protection from severe falciparum malaria. The purpose of this study was to identify sing...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0753-3
更新日期:2010-02-01 00:00:00
abstract::Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormal...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00292373
更新日期:1983-01-01 00:00:00
abstract::To dissect the genetic architecture of sexual dimorphism in obesity-related traits, we evaluated the sex-genotype interaction, sex-specific heritability and genome-wide linkages for seven measurements related to obesity. A total of 1,365 non-diabetic Chinese subjects from the family study of the Stanford Asia-Pacific ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0877-5
更新日期:2010-11-01 00:00:00
abstract::Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a highly genetically heterogeneous disorder. Up to date only approximately 37 ADNSHL-causing genes have been identified. The goal of this study was to determine the causative gene in a five-generation Chinese family with ADNSHL. A Chinese family was ascertained....
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1885-0
更新日期:2018-04-01 00:00:00
abstract::Three children with hyperphenylalaninaemia and hyperphenylalaninaemic mothers are presented. At least one of the affected children was a compound heterozygote for hyperphenylalaninaemia and phenylketonuria. The families were examined by an L-phenylalanine loading test, by direct determination of phenylalanine hydroxyl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291569
更新日期:1984-01-01 00:00:00
abstract::Nucleolar fusion and nucleolus formation occurred simultaneously, immediately after mitosis, in cultured human lymphocytes. Evidence is presented that in late telophase and post-telophase, the individual nucleolar organising site includes two components, represented in post-telophase by the nucleolus and its attached ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291307
更新日期:1978-06-27 00:00:00
abstract::Retroelements (REs) occupy up to 40% of the human genome. Newly integrated REs can change the pattern of expression of pre-existing host genes and therefore might play a significant role in evolution. In particular, human- and primate-specific REs could affect the divergence of the Hominoidea superfamily. A comparativ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0904-2
更新日期:2003-05-01 00:00:00