Abstract:
:Familial hemiplegic migraine (FHM) is a distinctive form of migraine with an autosomal dominant mode of inheritance. The migraine-like attacks are associated with transient hemiparesis. A locus for FHM has recently been assigned to chromosome 19 by linkage mapping. In the present study, five unrelated pedigrees with multiple members suffering from hemiplegic migraine were investigated. In two of the pedigrees additional symptoms, cerebellar ataxia and benign neonatal convulsions, respectively, were observed in affected members. Three pedigrees showed linkage to loci D19S391, D19S221, and D19S226 at chromosome 19p13. Haplotyping suggested a location of a FHM gene between D19S391 and D19S221. In the two remaining families, evidence against linkage was found. These results confirm the localization of a gene for familial hemiplegic migraine to the short arm of chromosome 19, but locus heterogeneity not corresponding to the observed clinical heterogeneity is likely to exist.
journal_name
Genomicsjournal_title
Genomicsauthors
Ophoff RA,van Eijk R,Sandkuijl LA,Terwindt GM,Grubben CP,Haan J,Lindhout D,Ferrari MD,Frants RRdoi
10.1006/geno.1994.1340subject
Has Abstractpub_date
1994-07-01 00:00:00pages
21-6issue
1eissn
0888-7543issn
1089-8646pii
S0888-7543(84)71340-1journal_volume
22pub_type
杂志文章相关文献
GENOMICS文献大全abstract::The structural gene for beta-galactoside-binding protein (Lgals-1), a cell growth regulatory molecule and cystostatic factor, is assigned to the E-region of mouse chromosome 15 and to the region q12-q13.1 of human chromosome 22. The evolutionary conservation of these two regions has been previously suggested from comp...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1039
更新日期:1993-01-01 00:00:00
abstract::Mitochondrial intermediate peptidase (MIP) is a component of the mitochondrial protein import machinery required for maturation of nuclear-encoded precursor proteins targeted to the mitochondrial matrix or inner membrane. We previously characterized this enzyme in rat (RMIP) and Saccharomyces cerevisiae (YMIP) and sho...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1174
更新日期:1995-08-10 00:00:00
abstract::Fishes possess more genes than other vertebrates, possibly because of a genome duplication event during the evolution of the teleost (ray-finned) fish lineage. To further explore this idea, we cloned five genes encoding phosphoinositide-specific phospholipase C-delta (PLC-delta), designated respectively PoPLC-deltas, ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2008.07.012
更新日期:2008-11-01 00:00:00
abstract::We employed the polymerase chain reaction and genomic DNA library screening to clone novel human genes, GPR9 and GPR10, and a rat gene, GPR14. GPR9, GPR10, and GPR14 each encode G protein-coupled receptors. GPR10 and GPR14 are intronless within their coding regions, while GPR9 contains at least one intron. The recepto...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.9996
更新日期:1995-09-20 00:00:00
abstract::S-lac lectins are a family of soluble lactose-binding proteins thought to function in the control of cell growth. We now report the chromosomal mapping of two members of the family, termed L-14-I and L-14-II, to the q12-q13 region of human chromosome 22, suggesting the possibility of a cluster of genes for lactose-bin...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1078
更新日期:1993-02-01 00:00:00
abstract::The alpha-fetoprotein (AFP) gene is transcribed at high levels in the fetal liver and is repressed at birth, leading to low but detectable levels of AFP mRNA in the adult liver. This repression is regulated, in part, by a locus that is unlinked to AFP called Alpha-fetoprotein regulator 1 (Afr1). Previous studies showe...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1999.6073
更新日期:2000-01-15 00:00:00
abstract::The wealth of genomic technologies has enabled biologists to rapidly ascribe phenotypic characters to biological substrates. Central to effective biological investigation is the operational definition of the process under investigation. We propose an elucidation of categories of biological characters, including diseas...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2009.08.016
更新日期:2009-12-01 00:00:00
abstract::To increase the number of markers on distal mouse chromosome 4, knowledge of the synteny homology between this region and human chromosome 1p (HSA1p) was used to identify candidate homologous mouse genes. Ten probes corresponding to loci on human chromosome 1p were tested to reveal polymorphisms between C57BL/6 and DB...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1994.1485
更新日期:1994-09-01 00:00:00
abstract::8-Oxo-dGTP (8-oxo-7,8-dihydrodeoxyguanosine triphosphate) is produced by active oxygen species in the nucleotide pool of the cell and can be incorporated into cellular DNA. Human cells contain enzyme activity that hydrolyzes 8-oxo-dGTP to 8-oxo-dGMP, thereby preventing occurrence of mutations, caused by misincorporati...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1994.1657
更新日期:1994-12-01 00:00:00
abstract::The chromosomal localization of the human Mu class glutathione S-transferase (GST) genes has been complicated by two factors; the total number of genes is unknown and there is a polymorphism that results from the presence or absence of the GSTM1 gene. Three human Mu class glutathione S-transferase isoenzymes, GSTM1, G...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1429
更新日期:1993-10-01 00:00:00
abstract::The majority of Williams-Beuren syndrome (WBS) patients have been shown to have a microdeletion within 7q11.2 including the elastin gene locus. The extent of these deletions has, however, not been well characterized. Thirty-five deletion patients were tested for all polymorphic markers in the 7q11.2 region bounding EL...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0237
更新日期:1996-05-15 00:00:00
abstract::Several studies have reported significant linkage for schizophrenia on 6p23, with a maximum lod score between D6S274 and D6S285. In this paper, we present a new human kinesin gene localized in this 2-cM interval. This gene, termed KIF13A, belongs to the unc-104/KIF1A kinesin subfamily and represents the orthologue of ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6535
更新日期:2001-05-15 00:00:00
abstract::Chromosome 11p13 is frequently rearranged in individuals with the WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) or parts of this syndrome. To map the cytogenetic aberrations molecularly, we screened DNA from cell lines with known WAGR-related chromosome abnormalities for rearra...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(88)90141-3
更新日期:1988-08-01 00:00:00
abstract::Human Xp22.1 contains genes involved in mineral balance that are implicated in X-linked hypophosphatemia (XLH) in humans, its murine homologue (Hyp), and another distinct murine hypophosphatemic disorder (Gy). In XLH, a gene, PEX, has been found to be mutated in up to 83% of patients but the sequences of the promoter ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1997.4876
更新日期:1997-09-01 00:00:00
abstract::lncRNAs are a class of transcriptional RNA molecules of >200 nucleotides in length. However, the overall expression pattern and function of lncRNAs in sheep muscle is not clear. Here, we identified 1566 lncRNAs and 404 differentially expressed lncRNAs in sheep muscle from prenatal (110 days of fetus) and postnatal (2 ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2018.01.009
更新日期:2019-03-01 00:00:00
abstract::Microsatellite repeat loci can provide informative markers for genetic linkage. Currently, the human chromosome 2 genetic linkage map has very few highly polymorphic markers. Being such a large chromosome, it will require a large number of informative markers for the dense coverage desired to allow disease genes to be...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1238
更新日期:1993-06-01 00:00:00
abstract::The search for the gene for choroideremia (MIM 30310), a rare retinal dystrophy, has been of great interest due to the existence of several choroideremia patients with well-defined structural chromosome aberrations, thus providing the basis for a reverse genetics approach to the isolation of this disease gene. This re...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(90)90494-f
更新日期:1990-04-01 00:00:00
abstract::Repeat element-mediated PCR can facilitate rapid cloning and mapping of human chromosomal region-specific DNA markers from somatic cell hybrid DNA. PCR primers directed to human repeat elements result in human-specific DNA synthesis; template DNA derived from a somatic cell hybrid containing the human chromosomal regi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(92)90261-p
更新日期:1992-06-01 00:00:00
abstract::We have mapped 13 loci on mouse Chromosome 18 by Southern blot analysis of restriction fragment length polymorphisms among progeny from an interspecific backcross: (C57BL/6J X Mus spretus) X M. spretus. Complete haplotype analysis of 136 of these progeny was used to establish gene order and estimate genetic distances ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(92)90029-r
更新日期:1992-08-01 00:00:00
abstract::We have established a method for amplifying and obtaining large quantities of chromosome-specific DNA by linker/adaptor ligation and polymerase chain reaction (PCR). Small quantities of DNA isolated from flow cytometry-sorted chromosomes 17 and 21 were digested with MboI, ligated to a linker/adaptor, and then subjecte...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(92)90378-6
更新日期:1992-02-01 00:00:00
abstract::The human formylpeptide receptor (FPR) gene cluster has three members: FPR1 and FPRL1, which are expressed in neutrophils and monocytes and encode seven-transmembrane-domain chemotactic receptors specific for N-formylpeptides, and FPRL2, whose function is unknown. The FPRL1 receptor is also a lipoxin A4 receptor. Usin...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1998.5376
更新日期:1998-07-15 00:00:00
abstract::The human genes encoding the alpha and beta forms of the retinoic acid receptor are known to be located on chromosomes 17 (band q21.1:RARA) and 3 (band p24:RARB). By in situ hybridization, we have now localized the gene for retinoic acid receptor gamma, RARG, on chromosome 12, band q13. We also mapped the three retino...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(91)90199-o
更新日期:1991-08-01 00:00:00
abstract::The large number of redundant sequences available in nucleotide databases provides a resource for the identification of polymorphisms. Expressed polymorphisms in X-linked genes can be used to determine the inactivation status of the genes, and polymorphisms in genes that are subject to inactivation can then be used as...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6153
更新日期:2000-04-01 00:00:00
abstract::CTP:phosphocholine cytidylyltransferase is the rate-controlling enzyme in phosphatidylcholine biosynthesis and is essential for the survival of eukaryotic cells. The murine cDNA for the cytidylyltransferase was cloned and sequenced. A genomic clone was isolated and the chromosomal location of the Ctpct locus determine...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80377-5
更新日期:1993-12-01 00:00:00
abstract::PCR primers specific to the human liver fructose-1,6-bisphosphatase (FBP) gene were designed and used to isolate a cosmid clone. Physical mapping of the FBP cosmid by FISH, and genetic mapping of an associated GA repeat polymorphism (PIC = 0.35), located the liver FBP gene to chromosome 9q22.3 with no recombination be...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1230
更新日期:1995-09-01 00:00:00
abstract::Human/rodent somatic cell hybrids have been exceedingly useful in assigning human genes and DNA sequences to specific human chromosomes. As new technologies for analyzing the human chromosome complement of such human/rodent hybrid cells become available, it is of critical importance that these be applied to enhance ch...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1026
更新日期:1993-01-01 00:00:00
abstract::The aim of this study was to elucidate the roles played by circular RNAs (circRNAs) in the mechanism underlying submandibular gland (SMG) dysfunction in hypertension. We employed RNA-seq to analyze the circRNA and mRNA expression profiles of SMGs. Seventy-five differentially expressed (DE) circRNAs and 691 DE mRNAs we...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2020.11.016
更新日期:2021-01-01 00:00:00
abstract::The loci DNF15S1 and DNF15S2 are members of a small repetitive sequence family at discrete chromosomal locations, namely, 1p36 and 3p21, respectively. Studies of the structure, arrangement, and interrelations of the family suggest that the single copy on chromosome 3 is the original member and that this gave rise to t...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(89)90005-0
更新日期:1989-10-01 00:00:00
abstract::Flowering is a prerequisite for pear fruit production. Therefore, the development of flower buds and the control of flowering time are important for pear trees. However, the molecular mechanism of pear flowering is unclear. SOC1, a member of MADS-box family, is known as a flowering signal integrator in Arabidopsis. We...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2019.09.011
更新日期:2020-03-01 00:00:00
abstract::Human chromosome 20 is conserved as a single segment on distal mouse chromosome (Chr) 2. PPGB, protective protein for beta-galactosidase, maps to human chromosome 20q13.1, and from linkage analysis of two interspecific crosses incorporating the mouse reciprocal translocations, T(2;8)2Wa (T2Wa) and T(2;16)28H (T28H), w...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1994.1373
更新日期:1994-07-01 00:00:00