PMID: 6985467Jan 1, 1982Paper

Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect

Human Genetics
H de VerneuilM O Rethoré

Abstract

Recently Meisler et al. (1980) reported the results of mouse/human somatic cell hybrid studies which indicated that the locus for human uroporphyrinogen I synthase (UPS) (EC 4.3.1.8) maps to chromosome 11. To evaluate further this assignment we have children with a trisomy of the region 11qter. We confirm the results of Meisler et al. (1980) and demonstrate that uroporphyrinogen I synthase activity is increased by a factor of 1.5 in trisomy 11qter. In erythrocytes of one child with a trisomy 11p, the expression of this enzyme was normal.

References

Jul 1, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·B GrandchampY Nordmann
Jan 1, 1980·Human Genetics·M FraccaroL Iselius
Jul 16, 1980·Biochemical and Biophysical Research Communications·M MeislerT B Shows

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