Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients

Springer Science and Business Media LLC - Tập 96 - Trang 249-250 - 1995
Leo A. J. Kluijtmans1, Henk J. Blom1, Godfried H. J. Boers2, Bernard A. van Oost3, Frans J. M. Trijbels1, Lambert P. W. J. van den Heuvel1
1Department of Paediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands
2Department of Internal Medicine, Division of Endocrinology, University Hospital Nijmegen, Nijmegen, The Netherlands
3Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands

Tóm tắt

Direct sequencing of the coding region of the cystathionine β-synthase (CBS) gene in two homocystinuric patients revealed the presence of two novel missense mutations. The first mutation, a 1111G → A transition, resulted in the substitution of the evolutionary conserved valine-371 by a methionine residue (V371M) and created a new NlaIII restriction site. The second mutation, a G→A transition at base-pair 494, resulted in an amino acid change from cysteine to tyrosine (C165Y) and abolished a BsoFI restriction site. Both mutations were found in a compound heterozygous state with the previously described 833T → C transition.

Tài liệu tham khảo