Abstract:
: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.
journal_name
Biochem Biophys Res Communjournal_title
Biochemical and biophysical research communicationsauthors
Chadefaux B,Rethoré MO,Raoul O,Ceballos I,Poissonnier M,Gilgenkranz S,Allard Ddoi
10.1016/0006-291x(85)91641-9subject
Has Abstractpub_date
1985-04-16 00:00:00pages
40-4issue
1eissn
0006-291Xissn
1090-2104pii
0006-291X(85)91641-9journal_volume
128pub_type
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