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Eight unrelated patients with recurrent thromboembolism, a family history of thrombosis, and plasma antithrombin III (ATIII) activity/antigen levels consistent with a diagnosis of heterozygous type I ATIII deficiency were studied by polymerase chain reaction/direct sequencing of ATIII gene exon-coding regions. Frameshift mutations of one base and two bases, respectively, were found to have occurred in two unrelated patients at the same GAG codon (Glu 245) within exon 4 of the ATIII gene. A literature search showed six further hitherto unrecognized deletion "hotspots" in four other human genes. These deletion-prone sites exhibited sufficient sequence homology with each other to derive a consensus sequence (T G A/G A/G G A/C), suggesting that deletion in human genes may not only be non-random but also sequence-directed.
C B Grundy, and
F Thomas, and
D S Millar, and
M Krawczak, and
E Melissari, and
V Lindo, and
E Moffat, and
V V Kakkar, and
D N Cooper
December 1985,
Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society,
C B Grundy, and
F Thomas, and
D S Millar, and
M Krawczak, and
E Melissari, and
V Lindo, and
E Moffat, and
V V Kakkar, and
D N Cooper
May 1993,
Human molecular genetics,
C B Grundy, and
F Thomas, and
D S Millar, and
M Krawczak, and
E Melissari, and
V Lindo, and
E Moffat, and
V V Kakkar, and
D N Cooper
July 1987,
Thrombosis research,
C B Grundy, and
F Thomas, and
D S Millar, and
M Krawczak, and
E Melissari, and
V Lindo, and
E Moffat, and
V V Kakkar, and
D N Cooper
November 1994,
Human genetics,
C B Grundy, and
F Thomas, and
D S Millar, and
M Krawczak, and
E Melissari, and
V Lindo, and
E Moffat, and
V V Kakkar, and
D N Cooper
November 2002,
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi,
C B Grundy, and
F Thomas, and
D S Millar, and
M Krawczak, and
E Melissari, and
V Lindo, and
E Moffat, and
V V Kakkar, and
D N Cooper
July 1983,
Thrombosis research,
C B Grundy, and
F Thomas, and
D S Millar, and
M Krawczak, and
E Melissari, and
V Lindo, and
E Moffat, and
V V Kakkar, and
D N Cooper
April 1993,
Genomics,
C B Grundy, and
F Thomas, and
D S Millar, and
M Krawczak, and
E Melissari, and
V Lindo, and
E Moffat, and
V V Kakkar, and
D N Cooper
February 1981,
Blood,
C B Grundy, and
F Thomas, and
D S Millar, and
M Krawczak, and
E Melissari, and
V Lindo, and
E Moffat, and
V V Kakkar, and
D N Cooper
March 1992,
Human genetics,
C B Grundy, and
F Thomas, and
D S Millar, and
M Krawczak, and
E Melissari, and
V Lindo, and
E Moffat, and
V V Kakkar, and
D N Cooper
December 1992,
Human genetics,
