Nussbaum R L, Orrison B M, Jänne P A, Charnas L, Chinault A C
Laboratory of Genetic Disease Research, National Center for Human Genome Research, NIH, Bethesda, MD 20892-4472, USA.
Hum Genet. 1997 Feb;99(2):145-50. doi: 10.1007/s004390050329.
The oculocerebrorenal syndrome of Lowe (OCRL; McKusick 309,000) is a rare X-linked disorder characterized by mental retardation, congenital cataracts, and Fanconi syndrome of the proximal renal tubules. We have carried out physical mapping of the OCRL1 gene and determined that it contains 24 exons occupying 58 kb. The gene, located in Xq25-26, is transcribed in a centromeric to telomeric direction. Primers have been developed that allow all coding exons and their intron/exon boundaries to be amplified from genomic DNA for mutation detection. Two tetranucleotide tandem repeat polymorphisms were characterized that immediately flank the OCRL1 gene and, together, are informative in over 90% of females. Variable splicing was seen in the OCRL1 transcript, involving a small 24-bp exon. These results should prove useful to medical and molecular geneticists studying mutations and providing DNA diagnostic services to families dealing with Lowe syndrome as well as to cell biologists interested in structure-function relationships for the OCRL1 protein.
洛氏眼脑肾综合征（OCRL；麦库西克编号309,000）是一种罕见的X连锁疾病，其特征为智力发育迟缓、先天性白内障以及近端肾小管的范科尼综合征。我们已对OCRL1基因进行了物理图谱绘制，并确定它包含24个外显子，占据58 kb。该基因位于Xq25 - 26，以着丝粒到端粒的方向转录。已开发出引物，可从基因组DNA中扩增出所有编码外显子及其内含子/外显子边界用于突变检测。鉴定出两个四核苷酸串联重复多态性，它们紧邻OCRL1基因两侧，并且合起来在超过90%的女性中具有信息性。在OCRL1转录本中观察到可变剪接，涉及一个小的24 bp外显子。这些结果对于研究突变并为患有洛氏综合征的家庭提供DNA诊断服务的医学和分子遗传学家，以及对OCRL1蛋白的结构 - 功能关系感兴趣的细胞生物学家应是有用的。
