de Verneuil H, Phung N, Nordmann Y, Allard D, Leprince F, Jérome H, Aurias A, Rethoré M O
Hum Genet. 1982;60(3):212-3. doi: 10.1007/BF00303004.
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.
最近，梅斯勒等人（1980年）报道了小鼠/人类体细胞杂交研究的结果，该研究表明人类尿卟啉原I合酶（UPS）（EC 4.3.1.8）的基因座定位于11号染色体。为了进一步评估这一定位，我们研究了11qter区域三体的儿童。我们证实了梅斯勒等人（1980年）的结果，并证明在11qter三体中尿卟啉原I合酶活性增加了1.5倍。在一名11p三体患儿的红细胞中，这种酶的表达是正常的。
