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

authors： Johnson KR,Davisson MT

更新日期：1992-08-01 00:00:00

abstract：:We mapped the owl monkey colony-stimulating factor 1 receptor (CSF1R) locus to the proximal region of chromosome 3q of karyotype VI(K-VI) and karyotype V(K-V) and the interleukin 5 (IL5) locus to the mid-region of chromosome 3q(K-VI) and 19q(K-IV) using a combination of Southern hybridization of somatic cells and in s...

journal_title：Genomics

authors： Ma NS,Lin KC

更新日期：1992-08-01 00:00:00

abstract：:RFX1 is a transacting DNA-binding regulatory factor involved in the control of MHC class II gene expression. RFX2 is a structurally very similar protein with identical DNA binding features. A member of the family of RFX factors is affected in an autosomal recessive disease, MHC class II deficient combined immunodefici...

journal_title：Genomics

authors： Pugliatti L,Derré J,Berger R,Ucla C,Reith W,Mach B

更新日期：1992-08-01 00:00:00

abstract：:A cDNA clone encoding the major antigen (CDR62) associated with the antibody-induced paraneoplastic cerebellar degeneration has been used to identify the chromosomal location of the corresponding structural gene(s) by screening for its retention in a panel of rodent-human somatic cell hybrids. Having established the s...

journal_title：Genomics

authors： Gress T,Baldini A,Rocchi M,Furneaux H,Posner JB,Siniscalco M

更新日期：1992-08-01 00:00:00

abstract：:The microtubule-associated protein 1B (MAP1B) locus has been mapped in close proximity to spinal muscular atrophy (SMA) on chromosome 5q13. We have identified a second microsatellite within a MAP1B intron, which increases the heterozygosity of this locus to 94%. Two unambiguous recombination events establish MAP1B as ...

journal_title：Genomics

authors： Brzustowicz LM,Kleyn PW,Boyce FM,Lien LL,Monaco AP,Penchaszadeh GK,Das K,Wang CH,Munsat TL,Ott J

更新日期：1992-08-01 00:00:00

abstract：:Human myosin light chain-2 (MYL2) is an important protein involved in the regulation of myosin ATPase activity in smooth muscle. In cardiac muscle, the precise role of MYL2 is not well understood; however, an increase in ventricular MYL2 is observed during myocardial hypertrophy in cardiac patients with valve stenosis...

journal_title：Genomics

authors： Macera MJ,Szabo P,Wadgaonkar R,Siddiqui MA,Verma RS

更新日期：1992-07-01 00:00:00

abstract：:The myotonic dystrophy (DM) region has been recently shown to be bracketed by two key recombinant events. One recombinant occurs in a Dutch DM family, which maps the DM locus distal to the ERCC1 gene and D19S115 (pE0.8). The other recombinant event is in a French Canadian DM family, which maps DM proximal to D19S51 (p...

journal_title：Genomics

authors： Shutler G,Korneluk RG,Tsilfidis C,Mahadevan M,Bailly J,Smeets H,Jansen G,Wieringa B,Lohman F,Aslanidis C

更新日期：1992-07-01 00:00:00

abstract：:The gene encoding human carboxyl ester lipase (CEL), including 1628 bp of the 5'-flanking region, has been isolated and characterized from two overlapping lambda phage clones. The gene spans 9832 bp and contains 11 exons interrupted by 10 introns. The exons range in size from 88 to 204 bp, except for the last exon, wh...

journal_title：Genomics

authors： Lidberg U,Nilsson J,Strömberg K,Stenman G,Sahlin P,Enerbäck S,Bjursell G

更新日期：1992-07-01 00:00:00

abstract：:Human genomic mapping has been greatly advanced by the independent development of three new methods: large DNA fragment cloning in yeast artificial chromosomes, amplification from complex DNAs of human specific segments by Alu-PCR, and high-resolution localization of complex DNA probes by fluorescent in situ hybridiza...

journal_title：Genomics

authors： Breen M,Arveiler B,Murray I,Gosden JR,Porteous DJ

更新日期：1992-07-01 00:00:00

abstract：:Sex determination in humans is mediated through the expression of a testis-determining gene on the Y chromosome. In humans, a candidate gene for the testis-determining factor (TDF) that encodes a protein with a putative DNA-binding motif and has been isolated is termed SRY. Here we describe an XY sex-reversed female w...

journal_title：Genomics

authors： McElreavey KD,Vilain E,Boucekkine C,Vidaud M,Jaubert F,Richaud F,Fellous M

更新日期：1992-07-01 00:00:00

abstract：:Using a slot-blot method for the dosage of single-copy sequences, the copy numbers of 30 chromosome 21 markers were assessed in the blood DNA of 11 patients with partial trisomy or monosomy 21 and in the DNA of a patient-derived human-hamster hybrid cell line carrying a microduplication of chromosome 21. The physical ...

journal_title：Genomics

authors： Delabar JM,Chettouh Z,Rahmani Z,Theophile D,Blouin JL,Bono R,Kraus J,Barton J,Patterson D,Sinet PM

更新日期：1992-07-01 00:00:00

abstract：:The spectrum of cystic fibrosis (CF) mutations was determined in 105 patients by using denaturing gradient gel electrophoresis to screen the entire coding regions and adjacent cystic fibrosis transmembrane conductance regulator (CFTR) gene sequences. The nucleotide substitutions detected included 16 novel mutations, 1...

journal_title：Genomics

authors： Fanen P,Ghanem N,Vidaud M,Besmond C,Martin J,Costes B,Plassa F,Goossens M

更新日期：1992-07-01 00:00:00

abstract：:Recently we isolated a cellular DNA binding protein, designated interleukin enhancer binding factor (ILF), that binds to purine-rich regulatory motifs in both the HIV-1 LTR and the IL2 promoter. Further analysis of the ILF gene reveals the existence of two mRNA species, both of which encode proteins containing the rec...

journal_title：Genomics

authors： Li C,Lusis AJ,Sparkes R,Nirula A,Gaynor R

更新日期：1992-07-01 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

authors： Brooks-Wilson AR,Smailus DE,Weier HU,Goodfellow PJ

更新日期：1992-06-01 00:00:00

abstract：:The gene for prosaposin was characterized by sequence analysis of chromosomal DNA to gain insight into the evolution of this locus that encodes four highly conserved sphingolipid activator proteins or saposins. The 13 exons ranged in size from 57 to 1200 bp, while the introns were from 91 to 3812 bp in length. The reg...

journal_title：Genomics

authors： Rorman EG,Scheinker V,Grabowski GA

更新日期：1992-06-01 00:00:00

abstract：:The genes encoding receptors for the chemotactic ligands C5a (C5AR) and FMLP (FPR) were mapped using a panel of somatic cell hybrids to chromosome 19. Because the hybridization pattern on Southern analysis suggested an intron structure or related genes in the case of FPR, genomic clones were characterized. Two structu...

journal_title：Genomics

authors： Bao L,Gerard NP,Eddy RL Jr,Shows TB,Gerard C

更新日期：1992-06-01 00:00:00

abstract：:Desmoglein is a transmembrane glycoprotein of the cadherin superfamily present in the desmosomal junction in vertebrate epithelial cells. At least two variants of desmoglein are differentially expressed in human tissues: DGI, a characteristic desmosomal protein; and HDGC, which is, for example, expressed in the simple...

journal_title：Genomics

authors： Arnemann J,Spurr NK,Magee AI,Buxton RS

更新日期：1992-06-01 00:00:00

abstract：:PKD1, the gene for the chromosome 16-linked form of autosomal dominant polycystic kidney disease, has previously been genetically mapped to an interval bounded by the polymorphic loci Fr3-42/EKMDA2 distally and O327hb/O90a proximally. More recently, 26.6PROX was identified as the closest proximal flanking locus. We se...

journal_title：Genomics

authors： Somlo S,Wirth B,Germino GG,Weinstat-Saslow D,Gillespie GA,Himmelbauer H,Steevens L,Coucke P,Willems P,Bachner L

更新日期：1992-05-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (PKD1) is linked to the alpha-globin locus near the telomere of chromosome 16p. We established the existence of a conserved linkage group in mouse by mapping conserved sequences and cDNAs from the region surrounding the PKD1 gene in the mouse genome. Results obtained with t...

journal_title：Genomics

authors： Himmelbauer H,Pohlschmidt M,Snarey A,Germino GG,Weinstat-Saslow D,Somlo S,Reeders ST,Frischauf AM

更新日期：1992-05-01 00:00:00

abstract：:In line 4 transgenic mice, six to eight copies of a 50-kb lambda recombinant clone are arranged in a head-to-tail tandem array on chromosome 3. Embryos homozygous for the transgene become arrested in their development on Day 5 of gestation shortly after implantation. The insertion site was cloned using a small segment...

journal_title：Genomics

authors： Mark WH,Signorelli K,Blum M,Kwee L,Lacy E

更新日期：1992-05-01 00:00:00

abstract：:The allele-specific polymerase chain reaction (ASPCR) procedure has proven a powerful tool for the detection and analysis of known genetic polymorphisms. Here, we present a novel application of the ASPCR technique to determine the ABO genotypes of individuals without the need of family analysis. The method introduces ...

journal_title：Genomics

authors： Ugozzoli L,Wallace RB

更新日期：1992-04-01 00:00:00

abstract：:Fluorescence in situ hybridization was used to establish the order of, and to estimate genomic distances among, members of the carcinoembryonic antigen (CEA) and pregnancy-specific glycoprotein (PSG) subgroups on chromosome 19. Fluorescence in situ hybridization to metaphase chromosomes localized the PSG subgroup telo...

journal_title：Genomics

authors： Brandriff BF,Gordon LA,Tynan KT,Olsen AS,Mohrenweiser HW,Fertitta A,Carrano AV,Trask BJ

更新日期：1992-04-01 00:00:00

abstract：:Type V collagen is a fibrillar collagen that is widely distributed in tissues as a minor component of extracellular matrix and is usually composed of one pro alpha 2 (V) and two pro alpha 1 (V) chains. In this report, recently isolated cDNA and genomic clones, which encode the pro alpha 1 (V) chain, are used as probes...

journal_title：Genomics

authors： Greenspan DS,Byers MG,Eddy RL,Cheng W,Jani-Sait S,Shows TB

更新日期：1992-04-01 00:00:00

abstract：:Ten microsatellite DNA polymorphisms located on human chromosome 10 were regionally mapped using subchromosomal somatic cell hybrids and linkage analysis. The resulting order of the markers from pter-qter was [D10S89, D10S111], D10S107, D10S109, [D10S91, D10S110, D10S108, D10S88, D10S168], and D10S169. Order of the ma...

journal_title：Genomics

authors： Decker RA,Moore J,Ponder B,Weber JL

更新日期：1992-03-01 00:00:00

abstract：:Transcobalamin I (TCI) is a vitamin B12 binding protein that is found in the secondary granules of mature neutrophils. The expression of the gene for TCI (TCN1) within neutrophils has been shown to be restricted to the later stages of myeloid development and can therefore be used as a marker for granulocyte differenti...

journal_title：Genomics

authors： Johnston J,Yang-Feng T,Berliner N

更新日期：1992-03-01 00:00:00

abstract：:In extracellular fluids the insulin-like growth factors (IGFs) are bound to specific binding proteins (IGBPs). The genes for two members of this protein family have been mapped, the IGBP1 gene to human chromosomal region 7p14-p12 and the IGBP2 gene to region 2q33-q34. In this study, somatic cell hybrid analysis indica...

journal_title：Genomics

authors： Ehrenborg E,Larsson C,Stern I,Janson M,Powell DR,Luthman H

更新日期：1992-03-01 00:00:00

abstract：:Expressed sequence tags (ESTs) have been obtained from several hundred brain cDNAs as an initial effort to characterize expressed brain genes. These ESTs will become tools for human genome mapping and they will also provide candidate causative genes for inherited disorders affecting the central nervous system. We have...

journal_title：Genomics

authors： Polymeropoulos MH,Xiao H,Glodek A,Gorski M,Adams MD,Moreno RF,Fitzgerald MG,Venter JC,Merril CR

更新日期：1992-03-01 00:00:00

abstract：:Aspartylglucosaminuria (AGU) is a recessively inherited lysosomal disease caused by inadequate aspartylglucosaminidase (AGA) activity. The disease is prevalent in the genetically isolated Finnish population. We have used a new method, solid-phase minisequencing, to determine the frequency of two missense mutations in ...

journal_title：Genomics

authors： Syvänen AC,Ikonen E,Manninen T,Bengtström M,Söderlund H,Aula P,Peltonen L

更新日期：1992-03-01 00:00:00

abstract：:We have constructed a long-range contig of cosmid and YAC clones around D10S102, a locus that is tightly linked to the gene responsible for multiple endocrine neoplasia type 2A (MEN2A). With D10S102 as a starting point, a 360-kb cosmid contig was constructed by bidirectional genomic walking, and at least six fragments...

journal_title：Genomics

authors： Tokino T,Imai T,Tanigami A,Takiguchi S,Nakamura Y

更新日期：1992-02-01 00:00:00

abstract：:Acid sphingomyelinase (ASM; HGMW-approved symbol, SMPD1) is the lysosomal phosphodiesterase that hydrolyzes sphingomyelin to ceramide and phosphocholine. The deficient activity of this enzyme results in Types A and B Niemann-Pick disease (NPD). The full-length cDNA encoding human ASM has been isolated and characterize...

journal_title：Genomics

authors： Schuchman EH,Levran O,Pereira LV,Desnick RJ

更新日期：1992-02-01 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

authors： Chang KS,Vyas RC,Deaven LL,Trujillo JM,Stass SA,Hittelman WN

更新日期：1992-02-01 00:00:00

abstract：:The localization of a gene responsible for a normal variant of the human electroencephalogram to the distal part of chromosome 20q is reported. A linkage analysis, including 17 families with 191 individuals, tested with 73 RFLPs and 22 blood and serological markers, was performed for the low-voltage electroencephalogr...

journal_title：Genomics

authors： Steinlein O,Anokhin A,Yping M,Schalt E,Vogel F

更新日期：1992-01-01 00:00:00

abstract：:The X-linked kidney disorder known as Alport syndrome (AS) has been shown to be due to mutations in the gene for an alpha 5 chain of type IV collagen that maps to Xq22-23. Using overlapping cDNA clones that represent approximately 90% of this gene and pulsed-field gel electrophoresis, we have constructed a 2.4-Mb long...

journal_title：Genomics

authors： Vetrie D,Flinter F,Bobrow M,Harris A

更新日期：1992-01-01 00:00:00

abstract：:Nineteen polymorphic lymphocyte proteins were previously detected by two-dimensional protein electrophoresis (2DE). In this report, we describe the genetic linkage mapping of six of these polymorphic proteins (PNIA1-PNIA6), the identification by genetic linkage of a seventh (glyoxalase 1 on 6p21), and support for the ...

journal_title：Genomics

authors： Goldman D,O'Brien SJ,Lucas-Derse S,Dean M

更新日期：1991-12-01 00:00:00

abstract：:The gene coding for the alpha 5 chian of type IV collagen (alpha 5(IV) collagen), which maps to Xq22, is a candidate gene for the X-linked dominant disease Alport syndrome (AS). Using three cDNA clones, covering the 3' end of the alpha 5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this g...

journal_title：Genomics

authors： Boye E,Vetrie D,Flinter F,Buckle B,Pihlajaniemi T,Hamalainen ER,Myers JC,Bobrow M,Harris A

更新日期：1991-12-01 00:00:00

abstract：:A complete physical map of the DNA of an organism, consisting of overlapping clones spanning the genome, is an extremely useful tool for genomic analysis. Various methods for the construction of such physical maps are available. One approach is to assemble the physical map by "fingerprinting" a large number of random ...

journal_title：Genomics

authors： Arratia R,Lander ES,Tavaré S,Waterman MS

更新日期：1991-12-01 00:00:00

abstract：:Four allelic forms of serum plasminogen (PLG) were detected in baboons (Papio hamadryas Linneaus 1758) by isoelectric focusing and were determined to be inherited as autosomal codominant traits. Linkage analysis of data from 179 progeny and their parents revealed that PLG is tightly linked (lod score = 30.20) to the g...

journal_title：Genomics

authors： VandeBerg JL,Weitkamp L,Kammerer CM,Weill P,Aivaliotis MJ,Rainwater DL

更新日期：1991-12-01 00:00:00

abstract：:A cDNA encoding the human GABAA receptor beta 3 subunit has been isolated from a brain cDNA library and its nucleotide sequence has been determined. This gene, GABRB3, has recently been mapped to human chromosome 15q11q13, the region deleted in Angelman and Prader-Willi syndromes. The association of distinct phenotype...

journal_title：Genomics

authors： Wagstaff J,Chaillet JR,Lalande M

更新日期：1991-12-01 00:00:00

abstract：:The gene for mouse transition protein 1 (mTP1) was isolated, sequenced, and chromosomally mapped. The nucleotide sequence of 1895 bp of a 6.4-kb mTP1 genomic subclone was determined to include 788 bp of 5' flanking region, 564 bp of coding region including a 396-bp intron and a TAA stop codon, and 543 bp of 3' flankin...

journal_title：Genomics

authors： Yelick PC,Kozak C,Kwon YK,Seldin MF,Hecht NB

更新日期：1991-11-01 00:00:00

abstract：:Thirteen moderately to highly informative microsatellite DNA polymorphisms based on (dC-dA)n.(dG-dT)n repeats were mapped to segments of human chromosome 5 using both linkage analysis and a panel of somatic cell hybrids which contained rearranged chromosomes. The markers were distributed throughout most of the length ...

journal_title：Genomics

authors： Weber JL,Polymeropoulos MH,May PE,Kwitek AE,Xiao H,McPherson JD,Wasmuth JJ

更新日期：1991-11-01 00:00:00