Heinzmann C, Kojis T L, Gonzalez P, Rao P V, Zigler J S, Polymeropoulos M H, Klisak I, Sparkes R S, Mohandas T, Bateman J B
Vision Genetics Center, Jules Stein Eye Institute, Los Angeles, California.
Genomics. 1994 Sep 15;23(2):403-7. doi: 10.1006/geno.1994.1516.
zeta-Crystallin is a lens protein that has been associated with autosomal dominant congenital cataracts in guinea pigs and thus is a candidate for human congenital cataracts. We have assigned the zeta-crystallin gene (CRYZ) to human chromosome 1 using a Southern panel of 17 human-mouse somatic cell hybrids and regionally localized it to 1p22-p31 by fluorescence in situ hybridization. Five restriction fragment length polymorphisms were identified by analyzing the DNA from 10 unrelated, unaffected individuals. Our results will permit evaluation of its role in human cataractogenesis.
ζ-晶体蛋白是一种晶状体蛋白，已被证实与豚鼠常染色体显性先天性白内障有关，因此它是人类先天性白内障的一个候选因素。我们利用由17个人类-小鼠体细胞杂种组成的Southern杂交板，将ζ-晶体蛋白基因（CRYZ）定位于人类1号染色体，并通过荧光原位杂交将其区域定位到1p22-p31。通过分析10名无亲缘关系、未受影响个体的DNA，鉴定出了5种限制性片段长度多态性。我们的研究结果将有助于评估其在人类白内障发生过程中的作用。
