DNA Analysis of Antithrombin III (AT III) Gene in Three Japanese Kindreds with Congenital AT III Deficiency

Uno, Yuka; Shigekiyo, Toshio; Yoshimoto, Katsuhiko; Saito, Shiro; Inomoto, Takashi

doi:10.2491/jjsth.1.512

Cited by 1 publication

(3 citation statements)

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“…We studied the molecular basis of type I a AT III deficiency in two unrelated families. In one of them an autosomal dominant mode of inheritance was shown by the presence of two RFLPs described above and cross-reactive variant AT III proteins were not detected in either family by immunoelectrophoresis (14). South ern blotting of DNAs digested with TaqI, EcoRl, Hindlïl, and other restriction enzymes from propositi of these families, did not show any gross abnormalities of the AT III gene as reported previously (14).…”

Section: Introductionsupporting

confidence: 72%

“…In one of them an autosomal dominant mode of inheritance was shown by the presence of two RFLPs described above and cross-reactive variant AT III proteins were not detected in either family by immunoelectrophoresis (14). South ern blotting of DNAs digested with TaqI, EcoRl, Hindlïl, and other restriction enzymes from propositi of these families, did not show any gross abnormalities of the AT III gene as reported previously (14). In this study, we applied PCR-SSCP and DNA sequencing to the AT III gene in two unrelated families with type la AT III deficiency.…”

Section: Introductionmentioning

confidence: 93%

“…Genomic DNAs of both propositi were determined as heterozygous in exon 4 for Pstl polymorphism, the codon for Gin 305 (14). To maintain the parallelism, we obtained DNA from a normal individual who was heterozygous for the Pstl polymorphism as the control for PCR-SSCP analysis.…”

Section: Pcr-sscp Analysismentioning

confidence: 99%

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Two New Nonsense Mutations in Type Ia Antithrombin III Deficiency at Leu 140 and Arg 197

et al. 1992

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SummaryUsing polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing, the molecular basis of hereditary type la antithrombin III (AT III) deficiency was disclosed in two families. One mutation was a change from T to A in the codon of TTA for Leu 140 forming a stop codon of TAA, which was confirmed by mutated primer-mediated PCR-HindIII digestion. The application of this method demonstrated that all four affected members had the mutant allele in a heterozygous state and that none of unaffected subjects had this mutation. Another mutation in the second family was a change from C to T in the codon of CGA for Arg 197 also forming a stop codon of TGA, which was confirmed by PCR-HaeIII digestion. Based on these, it was concluded that the two new nonsense mutations in the AT III gene in a heterozygous state are the molecular basis of hereditary type Ia AT III deficiency.

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Section: Introductionsupporting

confidence: 72%

Section: Introductionmentioning

confidence: 93%