Disease relevance of Chromosome Mapping

• An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13 [1].
• Genetics of Type I diabetes mellitus: a single, recessive predisposition gene mapping between HLA-B and GLO. With an appendix on the estimation of selection bias [2].
• To test the usefulness of linkage disequilibrium for gene mapping, we compared physical distances and linkage disequilibrium among eight RFLPs in the neurofibromatosis 1 (NF1) region [3].
• We report the identification of mutations in a non-syndromic autosomal recessive congenital ichthyosis (ARCI) in a new gene mapping within a previously identified locus on chromosome 19p12-q12, which has been defined as LI3 in the OMIM database (MIM 604777) [4].
• Our results provide a candidate region for further gene mapping in p16-negative 9p21-linked melanoma families and guide the search for risk modifiers in melanoma development [5].

Psychiatry related information on Chromosome Mapping

• Further, it supports the hypothesis that MDD and anxiety disorders have over-lapping genetic etiologies and suggests that comorbid diagnoses may be useful in defining more genetically homogeneous forms of MDD for linkage mapping [6].

High impact information on Chromosome Mapping

• Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), are responsible for SIOD [7].
• Using genome-wide linkage mapping and a positional candidate approach in a Saudi Arabian family affected with autosomal recessive SCAN1, we identified a homozygous mutation in TDP1 (A1478G) that results in the substitution of histidine 493 with an arginine residue [8].
• The findings are relevant to the basic mechanisms of epilepsy and to theories of genetic recombination and gene mapping [9].
• We have identified endoglin as the HHT gene mapping to 9q3 and have established HHT as the first human disease defined by a mutation in a member of the TGF-beta receptor complex [10].
• Gene mapping within the T/t complex of the mouse. IV: The inverted MHC is intermingled with several t-lethal genes [11].

Biological context of Chromosome Mapping

• A gene mapping to the sex-determining region of the mouse Y chromosome is deleted in a line of XY female mice mutant for Tdy, and is expressed at a stage during male gonadal development consistent with its having a role in testis determination [12].
• Zmhox1a (Zea mays homeobox) is an unidentified maize gene mapping to the long arm of chromosome 8 [13].
• A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes [14].
• We performed DNA linkage mapping using highly polymorphic microsatellite markers and found linkage to marker locus D1S1595 at 1q21 with a two-point lod score of 6.45 at Theta = 0.00 [15].
• The types of gene mapping data and its organization in the Genome Data Base (GDB) recently established at Johns Hopkins Medical School are described [16].

Anatomical context of Chromosome Mapping

• To test whether the neonatal defects found in the albino deletion mutants are attributable to loss of Fah, and not to another gene mapping to the deletion, we have generated Fah mutant mice by gene targeting in embryonic stem cells [17].
• Assignment of the human gene for the beta subunit of the voltage-dependent calcium channel (CACNLB1) to chromosome 17 using somatic cell hybrids and linkage mapping [18].
• These findings demonstrate for the first time a gene dosage effect for AK3 in a case of 9p trisomy and show again that gene mapping information can be used to define partial aneuploidies in fetal fibroblasts [19].
• The present paper describes the isolation and linkage mapping of two isoforms of skeletal muscle myosin heavy chain in pig [20].
• One mechanism, controlled by a gene mapping in or close to H-2D, influences the capacity of the H-2D gene product to form molecular complexes with FV molecules in the plasma membrane of infected cells [21].

Associations of Chromosome Mapping with chemical compounds

• The extended arm between biotin and RNA gives efficient electron microscopic gene mapping of DNA:RNA-biotin hybrids with avidin-ferritin and avidin-polymethacylate sphere labels and efficient gene enrichment by buoyant banding of DNA:RNA-biotin:avidin-spheres in CsCl [22].
• While the findings with ALLOP emphasize the therapeutic potential of neurosteroid treatment during EtOH withdrawal, the gene mapping studies suggest that pregnane neurosteroid biosynthesis may represent a target for therapeutic intervention in the treatment of alcohol dependence [23].
• FLT4 receptor tyrosine kinase gene mapping to chromosome band 5q35 in relation to the t(2;5), t(5;6), and t(3;5) translocations [24].
• Genomic organization of adrenergic and serotonin receptors in the mouse: linkage mapping of sequence-related genes provides a method for examining mammalian chromosome evolution [25].
• Adenosine diphosphate glucose pyrophosphorylase genes in wheat: differential expression and gene mapping [26].

Gene context of Chromosome Mapping

• Linkage mapping of the human CSF2 and IL3 genes [27].
• Gene mapping has identified OS mutations within a protein called Mid1 [28].
• Linkage mapping supports the contention that the genetic variant determining variable heat pain sensitivity across mouse strains affects the expression of the Calca gene that codes for CGRPalpha [29].
• A MspI polymorphism and linkage mapping of the human protein-tyrosine phosphatase G (PTPRG) gene [30].
• Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22 [31].

Analytical, diagnostic and therapeutic context of Chromosome Mapping

• Localization of the glucagon gene, whose chromosomal assignment was previously not known, demonstrates the general applicability of in situ hybridization as a powerful gene mapping technique [32].
• Immunoprecipitation of the enzyme prior to electrophoresis and gene mapping further confirmed the identity of the alpha GPDH protein spot [33].

References