Barton D E, Yang-Feng T L, Francke U
Hum Genet. 1986 Mar;72(3):221-4. doi: 10.1007/BF00291881.
Tyrosine aminotransferase (TAT; EC 2.6.1.5) is a liver enzyme involved in amino acid metabolism and gluconeogenesis. Low levels of TAT have been implicated in several inherited disorders, particularly tyrosinemia II (Richner-Hanhart syndrome). We have determined the chromosomal location of the human TAT gene by Southern blot hybridization analysis of DNAs from 18 human X rodent hybrid cell lines, using a rat cDNA probe. The results indicate that the TAT gene maps to chromosome 16. Analysis of two hybrids containing a rearranged chromosome 16 allowed assignment of the TAT locus to 16q22----24. In situ hybridization to human metaphase chromosomes confirmed this regional assignment.
酪氨酸转氨酶(TAT;EC 2.6.1.5)是一种参与氨基酸代谢和糖异生的肝脏酶。TAT水平低与多种遗传性疾病有关,尤其是酪氨酸血症II型(Richner-Hanhart综合征)。我们使用大鼠cDNA探针,通过对来自18个人类X啮齿动物杂交细胞系的DNA进行Southern印迹杂交分析,确定了人类TAT基因的染色体定位。结果表明,TAT基因定位于16号染色体。对两个含有重排16号染色体的杂交细胞系进行分析,将TAT基因座定位于16q22----24。对人类中期染色体进行原位杂交证实了这一区域定位。