Literature DB >> 3430555

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

R N Simmers1, J C Mulley, V J Hyland, D F Callen, G R Sutherland.   

Abstract

The regional localisation of the alpha globin (HBA) complex on the short arm of chromosome 16 was investigated by in situ hybridisation, Southern blot analysis, and linkage analysis using the fragile site at 16p12.3 (FRA16A) and translocation breakpoints within band 16p13.1. HBA was found to be distal to the two translocation breakpoints within band 16p13.1 and not closely linked to FRA16A. In situ hybridisation to the distal portion of the fragment on metaphase chromosomes expressing the fragile site and the observation of considerable recombination between FRA16A and HBA supports a localisation for HBA closer to the telomere than to FRA16A, at 16p13.2----pter.

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Year:  1987        PMID： 3430555      PMCID： PMC1050405          DOI： 10.1136/jmg.24.12.761

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


  20 in total

1.  Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

2.  Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate.

Authors:  G M Wahl; M Stern; G R Stark
Journal:  Proc Natl Acad Sci U S A       Date:  1979-08       Impact factor: 11.205

3.  Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

4.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

5.  Localization of the human alpha-globin gene cluster to the short arm of chromosome 16 (16p12-16pter) by hybridization in situ.

Authors:  P Barton; S Malcolm; C Murphy; M A Ferguson-Smith
Journal:  J Mol Biol       Date:  1982-04-05       Impact factor: 5.469

6.  Genetic length of a human chromosomal segment measured by recombination between two fragile sites.

Authors:  G R Sutherland; E Baker; J C Mulley
Journal:  Science       Date:  1982-07-23       Impact factor: 47.728

7.  Exclusion mapping illustrated by the MNSs blood group.

Authors:  P J Cook; J E Noades; C G Lomas; K E Buckton; E B Robson
Journal:  Ann Hum Genet       Date:  1980-07       Impact factor: 1.670

8.  Assignment of aberration breakpoints in banded chromosomes.

Authors:  J R Savage
Journal:  Nature       Date:  1977-12-08       Impact factor: 49.962

9.  Insertion of synthetic copies of human globin genes into bacterial plasmids.

Authors:  J T Wilson; L B Wilson; J K deRiel; L Villa-komaroff; A Efstratiadis; B G Forget; S M Weissman
Journal:  Nucleic Acids Res       Date:  1978-02       Impact factor: 16.971

10.  Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14.

Authors:  J C Mulley; A K Gedeon; K A Thorn; L J Bates; G R Sutherland
Journal:  Am J Med Genet       Date:  1987-06
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  5 in total

1.  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

2.  A linkage group with FRA16B (the fragile site at 16q22.1).

Authors:  J C Mulley; V J Hyland; A Fratini; L J Bates; A K Gedeon; G R Sutherland
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

3.  Restriction fragment length polymorphisms detected by anonymous DNA probes mapped to defined intervals of human chromosome 16.

Authors:  V J Hyland; S Grist; G R Sutherland
Journal:  Hum Genet       Date:  1988-07       Impact factor: 4.132

4.  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

Review 5.  Are common fragile sites merely structural domains or highly organized "functional" units susceptible to oncogenic stress?

Authors:  Alexandros G Georgakilas; Petros Tsantoulis; Athanassios Kotsinas; Ioannis Michalopoulos; Paul Townsend; Vassilis G Gorgoulis
Journal:  Cell Mol Life Sci       Date:  2014-09-20       Impact factor: 9.261
  5 in total

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