Bissbort S, Bender K, Wienker T F, Grzeschik K H
Hum Genet. 1983;65(1):68-71. doi: 10.1007/BF00285031.
A specific staining procedure for the demonstration of S-adenosylhomocysteine hydrolase (SAHH, EC 3.3.1.1) is given. The enzyme has a broad tissue distribution and is also present in erythrocytes. The SAHH gene is polymorphic in the population of southwest Germany with two common alleles: SAHH1 = 0.96 and SAHH2 = 0.04. Family studies resulted in the expected segregation ratios. No evidence for close linkage with a total of 25 marker loci was found. But information from human mouse somatic-cell hybrids led to the localization of the SAHH gene to human chromosome 20, thereby confirming the findings of Hershfield and Francke (1982).
给出了一种用于显示S-腺苷同型半胱氨酸水解酶(SAHH,EC 3.3.1.1)的特异性染色程序。该酶具有广泛的组织分布,在红细胞中也有存在。SAHH基因在德国西南部人群中具有多态性,有两个常见等位基因:SAHH1 = 0.96和SAHH2 = 0.04。家系研究得出了预期的分离比。未发现与总共25个标记位点紧密连锁的证据。但是来自人鼠体细胞杂种的信息导致将SAHH基因定位到人类20号染色体上,从而证实了赫什菲尔德和弗兰克(1982年)的发现。