scholarly journals Wilms' tumor-aniridia association: Segregation of affected chromosome in somatic cell hybrids, identification of cell surface antigen associated with deleted area, and regional mapping of c-Ha-ras-1 oncogene, insulin gene, and beta-globin gene

1984 ◽  
Vol 10 (5) ◽  
pp. 455-464 ◽  
Author(s):  
James H. Fisher ◽  
York E. Miller ◽  
Robert S. Sparkes ◽  
J. Brownwyn Bateman ◽  
Kathryn A. Kimmel ◽  
...  
1977 ◽  
Vol 145 (2) ◽  
pp. 314-326 ◽  
Author(s):  
B B Knowles ◽  
D Solter ◽  
G Trinchieri ◽  
K M Maloney ◽  
S R Ford ◽  
...  

Immunoselection via complement-dependent lysis of human-mouse somatic cell hybrids containing chromosome 7, with antisera reactive to cell surface antigen(s) coded for by chromosome 7, has resulted in growth of somatic cell hybrids containing rearranged human chromosome 7s. Investigation of these hybrids has localized the gene(s) coding for the relevant cell surface antigen(s) to the short arm of human chromosome 7. The simian virus 40 integration site and the gene coding for human beta-glucuronidase appear to be localized to the long arm of chromosome 7 in this hybrid clone.


1976 ◽  
Vol 16 (1-5) ◽  
pp. 99-100 ◽  
Author(s):  
D.W. Buck ◽  
S.J. Goss ◽  
W.F. Bodmer

1983 ◽  
Vol 258 (14) ◽  
pp. 8521-8523 ◽  
Author(s):  
R K Patient ◽  
R Harris ◽  
M E Walmsley ◽  
J G Williams

Blood ◽  
1988 ◽  
Vol 72 (2) ◽  
pp. 636-641 ◽  
Author(s):  
R Anand ◽  
CD Boehm ◽  
HH Jr Kazazian ◽  
EF Vanin

Abstract We report the characterization of a beta zero-thalassemia in an American Black with unusually high HbA2 and HbF levels. Genomic southern analysis indicated that the individual was heterozygous for a deletion that began within the second intervening sequence of the beta- globin gene and extended approximately 1.4 kb in the 5′ direction. A clone spanning the breakpoint on the abnormal chromosome was isolated and further mapped, and the deletion joint was sequenced. Comparison of the normal beta-globin gene and its 5′ flanking region with the deletion joint sequence indicated that the 5′ breakpoint for this deletion was 484 base pairs (bp) 5′ to the transcriptional start site for the beta-globin gene and the 3′ breakpoint was 908 bp into the beta- globin gene; the deletion removed a total of 1,393 bp. Comparison of the normal 5′ and 3′ breakpoint sequences indicated that this deletion was the result of a “clean” nonhomologous breakage and reunion event; ie, no spurious bases were added during the recombinational event. Analysis of the breakpoints of this deletion together with the breakpoints of two other small deletions involving the beta-globin gene suggests that the breakpoints may occur at DNA polymerase alpha pause sites.


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