Literature DB >> 2879933

High resolution gene mapping of the human alpha globin locus.

R D Nicholls, J A Jonasson, J O McGee, S Patil, V V Ionasescu, D J Weatherall, D R Higgs.   

Abstract

A combination of polymorphic DNA markers, cytogenetic analysis, and in situ hybridisation has been used for the high resolution assignment of the human alpha globin gene cluster on chromosome 16. Multiallelic DNA probes from within the alpha globin cluster were used to determine the number of copies of this locus in three cell lines containing trisomies of the short arm of chromosome 16 and one with a familial inversion, inv(16). The breakpoints in these rearrangements flank the alpha globin locus and locate a shortest region of overlap to 16p13.1. A meiotic crossover was also localised to this band. In situ hybridisation of biotinylated DNA probes to normal and inverted chromosomes 16 [inv(16)(p13.1;q22)] showed hybridisation sites at opposite ends of the chromosomes, consistent with this regional localisation.

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Year:  1987        PMID： 2879933      PMCID： PMC1049854          DOI： 10.1136/jmg.24.1.39

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  43 in total

1.  Direct cloning of specific genomic DNA sequences in plasmid libraries following fragment enrichment.

Authors:  R D Nicholls; A V Hill; J B Clegg; D R Higgs
Journal:  Nucleic Acids Res       Date:  1985-11-11       Impact factor: 16.971

2.  Determination of the parental origin of sex-chromosome monosomy using restriction fragment length polymorphisms.

Authors:  T Hassold; E Kumlin; N Takaesu; M Leppert
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

3.  Detection of sub-picogram quantities of specific DNA sequences on blot hybridization with biotinylated probes.

Authors:  V T Chan; K A Fleming; J O McGee
Journal:  Nucleic Acids Res       Date:  1985-11-25       Impact factor: 16.971

4.  Sensitive system for visualising biotinylated DNA probes hybridised in situ: rapid sex determination of intact cells.

Authors:  J Burns; V T Chan; J A Jonasson; K A Fleming; S Taylor; J O McGee
Journal:  J Clin Pathol       Date:  1985-10       Impact factor: 3.411

5.  Pericentric inversion 16 in man--a second case.

Authors:  K Miller
Journal:  Clin Genet       Date:  1986-02       Impact factor: 4.438

6.  Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16.

Authors:  S T Reeders; M H Breuning; G Corney; S J Jeremiah; P Meera Khan; K E Davies; D A Hopkinson; P L Pearson; D J Weatherall
Journal:  Br Med J (Clin Res Ed)       Date:  1986-03-29

7.  Sequence organization and genomic complexity of primate theta 1 globin gene, a novel alpha-globin-like gene.

Authors:  J Marks; J P Shaw; C K Shen
Journal:  Nature       Date:  1986 Jun 19-25       Impact factor: 49.962

8.  Upstream promoter element of the human metallothionein-IIA gene can act like an enhancer element.

Authors:  A Haslinger; M Karin
Journal:  Proc Natl Acad Sci U S A       Date:  1985-12       Impact factor: 11.205

9.  Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism.

Authors:  A Koufos; M F Hansen; N G Copeland; N A Jenkins; B C Lampkin; W K Cavenee
Journal:  Nature       Date:  1985 Jul 25-31       Impact factor: 49.962

10.  Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster.

Authors:  A P Jarman; R D Nicholls; D J Weatherall; J B Clegg; D R Higgs
Journal:  EMBO J       Date:  1986-08       Impact factor: 11.598
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  12 in total

1.  Detection of low copy human papilloma virus DNA and mRNA in routine paraffin sections of cervix by non-isotopic in situ hybridisation.

Authors:  J Burns; A K Graham; C Frank; K A Fleming; M F Evans; J O McGee
Journal:  J Clin Pathol       Date:  1987-08       Impact factor: 3.411

2.  A clinically homogeneous group of families with facioscapulohumeral (Landouzy-Déjérine) muscular dystrophy: linkage analysis of six autosomes.

Authors:  S J Jacobsen; E S Diala; B V Dorsey; M B Rising; R Graveline; K Falls; P Schultz; C Hogan; K Rediker; C D'Amico
Journal:  Am J Hum Genet       Date:  1990-09       Impact factor: 11.025

3.  Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).

Authors:  M H Breuning; F G Snijdewint; H Brunner; A Verwest; J W Ijdo; J J Saris; J G Dauwerse; L Blonden; T Keith; D F Callen
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

4.  Human alpha-globin maps to pter-p13.3 in chromosome 16 distal to PGP.

Authors:  M H Breuning; K Madan; M Verjaal; J T Wijnen; P Meera Khan; P L Pearson
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

5.  Mapping the human alpha globin gene complex to 16p13.2----pter.

Authors:  R N Simmers; J C Mulley; V J Hyland; D F Callen; G R Sutherland
Journal:  J Med Genet       Date:  1987-12       Impact factor: 6.318

6.  A large deletion encompassing the entire alpha-like globin gene cluster in a family of northern European extraction.

Authors:  P Fortina; K Delgrosso; E Rappaport; M Poncz; S K Ballas; E Schwartz; S Surrey
Journal:  Nucleic Acids Res       Date:  1988-12-09       Impact factor: 16.971

7.  Construction of a chromosome 16-enriched phage library and characterization of several DNA segments from 16p.

Authors:  P Harris; M Lalande; H Stroh; G Bruns; A Flint; S A Latt
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132

8.  Alpha-globin gene haplotypes in Polynesians: their relationships to population groups and gene rearrangements.

Authors:  M S Hertzberg; K N Mickleson; R J Trent
Journal:  Am J Hum Genet       Date:  1988-12       Impact factor: 11.025

9.  Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene.

Authors:  L Romao; F Cash; I Weiss; S Liebhaber; M Pirastu; R Galanello; A Loi; E Paglietti; P Ioannou; A Cao
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

10.  Localisation of human alpha globin to 16p13.3----pter.

Authors:  V J Buckle; D R Higgs; A O Wilkie; M Super; D J Weatherall
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318
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