解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::By optimizing the primer-annealing temperature in a rapid air cycling procedure, two human DNA sequences encoding centromere proteins B and C (CENP-B and CENP-C) were specifically amplified without any detectable amplification of highly homologous rodent DNA sequences. Using a panel of rodent/human hybrid DNA, the gen...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1312
更新日期:1993-07-01 00:00:00
abstract::We isolated and analyzed 19 NotI site-containing clones specific for human chromosome 21. The overall process consisted of selective isolation of NotI site-containing clones from flow-sorted chromosome 21 libraries, selection of independent clones by their restriction patterns and nucleotide sequences, and assignment ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1280
更新日期:1993-07-01 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::A contig of 20 yeast artificial clones (YACs) has been assembled across 1.5 Mb of Xq28 and formatted with nine previously reported probes and nine STSs developed from the sequence of probes and end fragments of YACs. YAC end fragments were obtained by subcloning, Alu-vector PCR, or primer-ligation PCR methods. Eightee...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1234
更新日期:1993-06-01 00:00:00
abstract::The autosomal recessive mutation mnd2 results in early onset motor neuron disease with rapidly progressive paralysis, severe muscle wasting, regression of thymus and spleen, and death before 40 days of age. mnd2 has been mapped to mouse chromosome 6 with the gene order: centromere-Tcrb-Ly-2-Sftp-3-D6Mit4-mnd2-D6Mit 6,...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1246
更新日期:1993-06-01 00:00:00
abstract::The sequence of the human Gc gene, including 4228 base pairs of the 5'-flanking region and 8514 base pairs of the 3' flanking region (55,136 in total), was determined from five overlapping lambda phage clones. The sequence spans 42,394 base pairs from the cap site to the polyadenylation site, and it reveals that the g...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1258
更新日期:1993-06-01 00:00:00
abstract::A fluorescence in situ hybridization (FISH) physical map of 14 polymorphic loci on chromosome 10 covers over 62% of the fractional length of chromosome 10. The positions of three previously mapped loci are confirmed, nine more are refined, and two new loci are cytogenetically mapped. The order of loci determined by FI...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1192
更新日期:1993-05-01 00:00:00
abstract::Although 338 genetic loci and 1 or more candidate tumor suppressor genes have been assigned to chromosome 6, the physical and genetic map of this chromosome is at a very preliminary stage. In this study, we have performed subregional localization of 20 single-copy DNA sequences previously assigned to chromosome 6 usin...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1206
更新日期:1993-05-01 00:00:00
abstract::In an attempt to identify C/EBP-like transcription factors expressed in the prostate, a cDNA homologous to the mouse C/EBP delta (CRP3) and the rat CELF gene was isolated. A genomic clone containing the entire C/EBP delta gene was isolated using a cDNA fragment as a probe. The gene was characterized by restriction map...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1220
更新日期:1993-05-01 00:00:00
abstract::Glutamate dehydrogenase is a mitochondrially located, key metabolic enzyme. In addition to its general metabolic role, GLUD is important in neurotransmission. Significant alterations in GLUD enzymatic activity have been associated with certain neurodegenerative human disorders. Although a single species of human GLUD ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1152
更新日期:1993-04-01 00:00:00
abstract::An arrayed library of human heterogeneous nuclear complementary (hnc) DNA was constructed from a somatic cell hybrid (M28) containing an i(12p) marker as the sole human chromosome. Heterogeneous nuclear (hn) RNA of M28 was used to synthesize first-strand hncDNA with a primer (RT) containing a random hexanucleotide at ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1161
更新日期:1993-04-01 00:00:00
abstract::Nearly 60 unique J alpha regions have been identified in human T-cell receptor (TCR) alpha chains to date, yet fewer than one-third of these have been localized within the alpha-chain locus. We report a rapid method for the mapping of productively rearranged J alpha regions using oligonucleotide probes and overlapping...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1172
更新日期:1993-04-01 00:00:00
abstract::The 19 chromosomal pairs of the swine karyotype are resolved into 18 peaks denoted A to Q and Y by dual-beam flow cytometry. The chromosomal content of six peaks has previously been determined by analyzing male/female differences, karyotypes of animals carrying translocations, and PCR studies of genes with known assig...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1146
更新日期:1993-04-01 00:00:00
abstract::Using library to library cross-screening we have identified a number of genomic clones that harbor X-linked sequences expressed in the human choroid/retina. We describe the characterization of one of these, designated XEH.8 (DXS542), which is localized to Xp11.3-q12. Isolation, partial sequencing, and Northern analysi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1096
更新日期:1993-03-01 00:00:00
abstract::The Xist sequence has been proposed as a potential candidate for the X-inactivation center based both on its localization within the candidate region for the X-inactivation center in man and mouse and on its unique pattern of expression from the inactive X chromosome. We have cloned 550 kb of DNA surrounding the mouse...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1108
更新日期:1993-03-01 00:00:00
abstract::A NotI end clone library has been constructed from a human-hamster hybrid cell line containing only human chromosome 11. Fifty-one NotI clones were chosen to characterize the library. The majority of NotI clones hybridize to small 15- to 200-kb fragments and have proven to be valuable for chromosome 11 physical mappin...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1120
更新日期:1993-03-01 00:00:00
abstract::A gene family of Na+/H+ exchanger isoforms has been identified. Characterization of rabbit NHE3 suggests that it is the apical epithelial Na+/H+ exchanger isoform responsible for transepithelial, electroneutral Na+ absorption in intestinal and renal epithelial cells. We have previously isolated from a human kidney cor...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1122
更新日期:1993-03-01 00:00:00
abstract::Pulsed-field gel electrophoresis and flow dot-blot analysis have been used to construct a physical map of the q32-q34 region of chromosome 9, where one of the loci responsible for tuberous sclerosis (TSC1) has been mapped by genetic linkage. Five linked groups of markers have been defined by pulsed-field gel electroph...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1056
更新日期:1993-02-01 00:00:00
abstract::The gene for X-linked agammaglobulinemia (XLA) has been mapped to Xq22. No recombinations have been reported between the gene and the probe p212 at DXS178; however, this probe is informative in only 30-40% of women and the reported flanking markers, DXS3 and DXS94, are 10-15 cM apart. To identify additional probes tha...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1066
更新日期:1993-02-01 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::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 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::Our previous genetic map for chromosome 17 has been expanded to include 72 loci defined by 90 RFLP markers and four microsatellite markers assayed by the polymerase chain reaction. Forty-one of these loci were ordered with odds greater than 1000:1 against local inversion, and the other 31 were ordered within 95% confi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1007
更新日期:1993-01-01 00:00:00
abstract::The human homeobox-containing genes EN1 and EN2 are closely related to the Drosophila pattern formation gene engrailed (en), which may be important in brain development, as shown by gene expression studies during mouse embryogenesis. Here, we have refined the localization of EN1 to human chromosome 2q13-q21 using a ma...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1045
更新日期:1993-01-01 00:00:00
abstract::Intercellular adhesion molecule-1 (ICAM-1, CD54) is a cell adhesion molecule that interacts with the leukocyte beta 2 integrins, LFA-1 and Mac-1. Murine inflammatory models are being utilized increasingly to define the role that ICAM-1 induction plays in the initiation of inflammation. We have isolated murine genomic ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80132-6
更新日期:1992-12-01 00:00:00
abstract::In this report we present the genomic, cDNA, and predicted protein sequences for mouse apolipoproteins A-I and CIII, as well as sequence comparisons with other species. The genes for these apolipoproteins are within 2.5 kb of each other and convergently transcribed. The almost 9 kb of genomic sequence presented extend...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80133-8
更新日期:1992-12-01 00:00:00
abstract::Using the human/hamster cell line UCTP2A-3, we have generated and isolated three hybrids, each containing a novel human chromosome 3p break. All chromosome 3 materials distal to the breaks were lost. Two of the breakpoints were produced using aphidicolin induction; the third breakpoint occurred spontaneously. The aphi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80110-7
更新日期:1992-12-01 00:00:00
abstract::To establish syntenic relationships of phototransduction genes, we have mapped the genes encoding the alpha-, beta-, and gamma-subunits of rod cGMP phosphodiesterase (PDE) (PDEA, PDEB, PDEG), the alpha'-subunit of cone PDE (PDEA2), and the rod cGMP-gated channel (CNCG) to bovine syntenic groups. The rod cGMP PDE alpha...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80171-5
更新日期:1992-11-01 00:00:00
abstract::A recessive mutation in the mouse, situs inversus viscerum (iv), results in randomization of organ position along the left-right body axis: approximately 50% of the progeny of homozygous matings exhibit situs solitus and 50% exhibit situs inversus. Recent studies have established genetic linkage between iv and the imm...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80163-6
更新日期:1992-11-01 00:00:00
abstract::We describe here a method for DNA fingerprinting of human chromosomes by Alu-polymerase chain reaction (PCR) amplification of DNA from monochromosomal hybrids, following digestion with restriction endonucleases. DNA digestion with restriction enzymes prior to PCR amplification reduces the total number of amplified fra...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80175-2
更新日期:1992-11-01 00:00:00
abstract::Hematopoietic cell phosphatase (Hcph) was identified by amplification of conserved protein tyrosine phosphatase sequences from a myeloid cell line and is predominantly expressed in hematopoietic cells. Hcph is unique in containing two, tandemly repeated, src-homology 2 domains in the amino terminal region of the phosp...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80189-2
更新日期:1992-11-01 00:00:00
abstract::Pax-1, a member of a murine multigene family, belongs to the paired box-containing class of developmental control genes first identified in Drosophila. The Pax-1 gene encodes a sequence-specific DNA-binding protein with transcriptional activating properties and has been found to be mutated in the autosomal recessive m...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80177-6
更新日期:1992-11-01 00:00:00
abstract::A novel method for identifying DNA point mutations has been developed by using mismatch repair enzymes. The high specificity of the Escherichia coli MutY protein has permitted the development of a reliable and sensitive method for the detection and characterization of point mutations in the human genome. The MutY prot...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80213-7
更新日期:1992-10-01 00:00:00
abstract::The class II region of the human major histocompatibility complex (HLA) is made up of three major subregions designated DR, DQ, and DP. With the aim of gaining an insight into the evolution and stability of DR haplotypes, a total of 63 cosmid clones were isolated from the DR subregion (Gogo-DR) of a western lowland go...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80224-1
更新日期:1992-10-01 00:00:00
abstract::A previous in situ hybridization study with a Pi class glutathione S-transferase cDNA probe revealed the presence of hybridizing sequences on the long arms of chromosomes 11 and 12. Since the GSTP1 gene is known to be on chromosome 11 and since it is thought that chromosomes 11 and 12 arose from an ancient tetraploidi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80243-5
更新日期:1992-10-01 00:00:00
abstract::alpha-Satellite subfamilies from chromosomes 21 and 13 are almost identical in sequence and cannot be distinguished from each other by hybridization techniques. A general method based on membrane-bound PCR is described here, allowing the discrimination of alpha-satellite DNA sequences from each of these two chromosome...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80256-3
更新日期:1992-10-01 00:00:00
abstract::There is a high level of conservation between human chromosomes and bovine syntenic groups. One such comparison is between human chromosome 12 and bovine chromosome 5, where at least 16 loci have been shown to be conserved in an homologous segment. However, the degree of conservation of order of the loci on bovine chr...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80280-0
更新日期:1992-09-01 00:00:00
abstract::Genes homologous to those located on human chromosome 4 (HSA4) were mapped in the bovine to determine regions of syntenic conservation among humans, mice, and cattle. Previous studies have shown that two homologs of genes on HSA4, PGM2 and PEPS, are located in bovine syntenic group U15 (chromosome 6). The homologous m...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80295-2
更新日期:1992-09-01 00:00:00
abstract::Complete or partial monosomy 7 is a recurring cytogenetic abnormality in acute myelogenous leukemia (AML) and myeloproliferative syndromes (MPS) and is particularly common in patients with Fanconi's anemia and in secondary AML. A familial form of monosomy 7 has been recognized in which two or more siblings develop MPS...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80293-9
更新日期:1992-09-01 00:00:00
abstract::Differences in the methylation status of certain cytosine residues between active and inactive X chromosomes can be used to determine X-inactivation in females heterozygous for X-linked restriction fragment length polymorphisms. We have studied methylation patterns in 105 females heterozygous at the DXS255 locus by So...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80285-x
更新日期:1992-09-01 00:00:00