A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3

2014 ◽  
Vol 164 (9) ◽  
pp. 2338-2343 ◽  
Author(s):  
Ali Al Kaissi ◽  
Rudolf Ganger ◽  
Katharina M. Rötzer ◽  
Klaus Klaushofer ◽  
Franz Grill
Keyword(s):  
Chromosome Region ◽  
Tibial Hemimelia

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3

2008 ◽  
Vol 123 (6) ◽  
pp. 625-631 ◽  
Author(s):  
Karina Lezirovitz ◽  
Sylvia Regina Pedrosa Maestrelli ◽  
Nelson Henderson Cotrim ◽  
Paulo A. Otto ◽  
Peter L. Pearson ◽  
...  
Keyword(s):  
Chromosome Region ◽  
Tibial Hemimelia

scholarly journals Production and Characterization of Maize Chromosome 9 Radiation Hybrids Derived From an Oat-Maize Addition Line

Genetics ◽  
2000 ◽  
Vol 156 (1) ◽  
pp. 327-339 ◽  
Author(s):  
O Riera-Lizarazu ◽  
M I Vales ◽  
E V Ananiev ◽  
H W Rines ◽  
R L Phillips
Keyword(s):  
Radiation Hybrid ◽  
Chromosome Region ◽  
Chromosome 9 ◽  
Addition Line ◽  
Addition Lines ◽  
Organization Studies ◽  
Maize Chromosome ◽  
Chromosome Addition ◽  
Radiation Hybrids ◽  
Chromosome Addition Lines

Abstract In maize (Zea mays L., 2n = 2x = 20), map-based cloning and genome organization studies are often complicated because of the complexity of the genome. Maize chromosome addition lines of hexaploid cultivated oat (Avena sativa L., 2n = 6x = 42), where maize chromosomes can be individually manipulated, represent unique materials for maize genome analysis. Maize chromosome addition lines are particularly suitable for the dissection of a single maize chromosome using radiation because cultivated oat is an allohexaploid in which multiple copies of the oat basic genome provide buffering to chromosomal aberrations and other mutations. Irradiation (gamma rays at 30, 40, and 50 krad) of a monosomic maize chromosome 9 addition line produced maize chromosome 9 radiation hybrids (M9RHs)—oat lines possessing different fragments of maize chromosome 9 including intergenomic translocations and modified maize addition chromosomes with internal and terminal deletions. M9RHs with 1 to 10 radiation-induced breaks per chromosome were identified. We estimated that a panel of 100 informative M9RHs (with an average of 3 breaks per chromosome) would allow mapping at the 0.5- to 1.0-Mb level of resolution. Because mapping with maize chromosome addition lines and radiation hybrid derivatives involves assays for the presence or absence of a given marker, monomorphic markers can be quickly and efficiently mapped to a chromosome region. Radiation hybrid derivatives also represent sources of region-specific DNA for cloning of genes or DNA markers.

Replacement of α1-Na-K-ATPase of Dahl rats by Milan rats lowers blood pressure but does not affect its activity

2001 ◽  
Vol 7 (2) ◽  
pp. 171-177 ◽  
Author(s):  
SERGEI N. ORLOV ◽  
JULIE DUTIL ◽  
PAVEL HAMET ◽  
ALAN Y. DENG
Keyword(s):  
Blood Pressure ◽  
Quantitative Trait Locus ◽  
Atpase Activity ◽  
Quantitative Trait ◽  
Chromosome Region ◽  
Homologous Region ◽  
Congenic Strains ◽  
Baseline Activity ◽  
Trait Locus

Both linkage and use of congenic strains have shown that a chromosome region near the gene for the Na-K-ATPase α1-subunit ( Atp1a1) contained a quantitative trait locus (QTL) for blood pressure (BP). Currently, two congenic strains, designated S.M5 and S.M6, were made by replacing a segment of the Dahl salt-sensitive SS/Jr (S) rat by the homologous region of the Milan normotensive rat (MNS). In S.M5, the gene for Atp1a1 is from the MNS strain; whereas in S.M6, Atp1a1 is from the S strain. The baseline activity of the α1-Na-K-ATPase and its stoichiometry were evaluated by an assay of ouabain-sensitive inwardly and outwardly directed 86Rb and 22Na fluxes in erythrocytes. The two congenic strains showed a similar BP, but both had a BP lower than that of S rats ( P < 0.0001). Neither the α1-Na-K-ATPase activity nor its stoichiometry was affected by the substitution of the Atp1a1 alleles of S by those of MNS. Thus the BP-lowering effects observed in S.M5 and S.M6 could not be attributed to the α1-Na-K-ATPase activity or its stoichiometry. Atp1a1 is not supported as a candidate to be a BP QTL.

scholarly journals t(6;8), t(8;9) and t(8;13) translocations associated with stem cell myeloproliferative disorders have close or identical breakpoints in chromosome region 8p11-12

Oncogene ◽  
1998 ◽  
Vol 16 (7) ◽  
pp. 945-949 ◽  
Author(s):  
Max Chaffanet ◽  
Cornel Popovici ◽  
Dominique Leroux ◽  
Michèle Jacrot ◽  
José Adélaïde ◽  
...  
Keyword(s):  
Stem Cell ◽  
Chromosome Region ◽  
Myeloproliferative Disorders

Molecular marker linked to a chromosome region regulating seed Zn accumulation in barley

2009 ◽  
Vol 25 (1) ◽  
pp. 167-177 ◽  
Author(s):  
Behzad Sadeghzadeh ◽  
Zed Rengel ◽  
Chengdao Li ◽  
Hua’an Yang
Keyword(s):  
Molecular Marker ◽  
Chromosome Region ◽  
Zn Accumulation

Genetic analysis of oxygen defense mechanisms in Drosophila melanogaster and identification of a novel behavioural mutant with a Shaker phenotype

Genome ◽  
1996 ◽  
Vol 39 (4) ◽  
pp. 749-757 ◽  
Author(s):  
James M. Humphreys ◽  
Brenda Duyf ◽  
Mei-Ling A. Joiner ◽  
John P. Phillips ◽  
Arthur J. Hilliker
Keyword(s):  
Drosophila Melanogaster ◽  
Defense Mechanisms ◽  
Chromosome Region ◽  
Recessive Mutation ◽  
Ether Anaesthesia ◽  
Ros Metabolism ◽  
Chromosome Mutations ◽  
New Gene ◽  
New Alleles

Mutants of Drosophila melanogaster that lack Cu/Zn superoxide dismutase or urate are hypersensitive to reactive oxygen species (ROS) generated in vivo by the redox-cycling agent paraquat. We have subsequently employed paraquat as a selective agent to identify adult viable mutants potentially defective in other, perhaps unknown, components of ROS metabolism. Paraquat screening of ethyl methanesulfonate-induced second- and third-chromosome mutations yielded 24 paraquat hypersensitive mutants. Two mutants were identified as being new alleles of the previously identified doublesex (dsx) and pink (p) genes. The remainder of the mutations identified previously undescribed genes, including one second chromosome paraquat hypersensitive mutant that was found to exhibit shaking legs, abdomen pulsations, and body shuddering under ether anaesthesia. This recessive mutation was mapped to the polytene chromosome region of 48A5–48B2 and defines a new gene we named quiver (qvr). This mutation is similar in phenotype to the Shaker (Sh), ether-a-gogo (eag), and Hyperkinetic (Hk) mutations, all of which affect potassium channel function in D. melanogaster. Key words : Drosophila, paraquat, EMS-mutagenesis, Shaker, oxidative-stress.

Human interferon gamma receptor 1 (IFNGR1) gene maps to chromosome region 6q23–6q24

1989 ◽  
Vol 84 (1) ◽  
pp. 92-94 ◽  
Author(s):  
Maryvonne Le Coniat ◽  
Catherine Alcaide-Loridan ◽  
Marc Fellous ◽  
Roland Berger
Keyword(s):  
Interferon Gamma ◽  
Chromosome Region ◽  
Human Interferon ◽  
Gamma Receptor ◽  
Gene Maps

Molecular analysis of chromosome region 11p13 in patients with Drash syndrome

1991 ◽  
Vol 86 (5) ◽  
Author(s):  
L. Jadresic ◽  
R.B. Wadey ◽  
B. Buckle ◽  
T.M. Barratt ◽  
C.D. Mitchell ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Chromosome Region ◽  
Drash Syndrome
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