Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations

2005 ◽  
Vol 138A (4) ◽  
pp. 340-343 ◽  
Author(s):  
Lisbeth Birk Møller ◽  
Peter Ott ◽  
Connie Lund ◽  
Nina Horn
Keyword(s):  
Gene Deletion ◽  
Neurological Manifestations ◽  
Partial Gene Deletion

scholarly journals A Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs

PLoS ONE ◽  
2014 ◽  
Vol 9 (3) ◽  
pp. e92127 ◽  
Author(s):  
Paige A. Winkler ◽  
Kara R. Gornik ◽  
David T. Ramsey ◽  
Richard R. Dubielzig ◽  
Patrick J. Venta ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Oculocutaneous Albinism ◽  
Doberman Pinscher ◽  
Partial Gene Deletion

Severe haemophilia B due to a 6 kb factor IX gene deletion including exon 4: Non-homologous recombination associated with a shortened transcript from whole blood

2007 ◽  
Vol 97 (02) ◽  
pp. 176-180 ◽  
Author(s):  
Ting-Chang Hsu ◽  
Shelley Nakaya ◽  
Arthur Thompson
Keyword(s):  
Growth Factor ◽  
Whole Blood ◽  
Gene Deletion ◽  
Factor Ix ◽  
Severe Haemophilia ◽  
Haemophilia B ◽  
French Family ◽  
Exon 4 ◽  
Intron 4 ◽  
Partial Gene Deletion

SummaryIn genotyping a severe hemophilia B subject, exons 1–3 and 5–8 were normal. Exon 4 did not amplify, suggesting a partial gene deletion. Previously, a French family with an exon 4 deletion had severe haemophilia B with a circulating, dysfunctional factor IX protein missing its first growth factor-like domain; breakpoints were not analyzed. Using a 5’ primer for exon 3 and a 3’ primer for exon 5 fragments, the subject’s factor IX gene amplified a 5 kb fragment whereas 11 kb was predicted, indicating a 6 kb deletion. Restriction endonucleases localized the 3’ intron 4 deletion breakpoint to 1.2 kb 5’ to exon 5. Sequencing through the breakpoints revealed a 5,969 bp deletion that included exon 4 and was accompanied by a 13 bp duplication inserted near the 3’ breakpoint site. Haemophilia was familial; on testing, his mother was confirmed as a heterozygous carrier, whereas his sister was homozygous for the normal, larger fragments. As exons 4 and 5 of the factor IX gene are in frame, this deletion should produce a shortened transcript, missing 114 bp (38 codons from the first growth factor-like domain). Reverse transcription of mRNA prepared from whole blood and PCR identified the shorter cDNA fragment. Western blotting demonstrated a smaller factor IX protein.

scholarly journals gamma Heavy chain disease in man: cDNA sequence supports partial gene deletion model.

1982 ◽  
Vol 79 (10) ◽  
pp. 3260-3264 ◽  
Author(s):  
A. Alexander ◽  
M. Steinmetz ◽  
D. Barritault ◽  
B. Frangione ◽  
E. C. Franklin ◽  
...  
Keyword(s):  
Heavy Chain ◽  
Cdna Sequence ◽  
Gene Deletion ◽  
Heavy Chain Disease ◽  
Partial Gene Deletion

scholarly journals Homozygous hereditary C3 deficiency due to a partial gene deletion.

1992 ◽  
Vol 89 (11) ◽  
pp. 4957-4961 ◽  
Author(s):  
M. Botto ◽  
K. Y. Fong ◽  
A. K. So ◽  
R. Barlow ◽  
R. Routier ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Partial Gene Deletion
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