Cystathionine beta synthase: Gene dosage effect in trisomy 21

The enzymatic activity of cystathionine beta synthase has been studied in fibroblasts of nine patients with regular trisomy 21. An excess of CBS activity was found in trisomy 21 with a trisomy 21/normal ratio equal to 1.66. A 1.04 ratio was found in 21q21→21 p ter monosomy; a 1.04 and 0.99 ratio was found in two 21 qter→21q22.3 monosomies; a 1.14 ratio in 21 qter→21q22 monosomy; a 0.89 ratio in a 21q21→21 pter trisomy; an excess of CBS activity was found in a 21q22.1 → 21q21 trisomy with a 1.57 ratio. These results show a gene dosage effect in human fibroblasts trisomic for chromosome 21 and suggest the assignment of human CBS locus between 21q22.1 and 21q21.