一个新的X连锁进行性视锥细胞营养不良基因定位于Xq27：遗传异质性的证据。
Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity.
作者信息
Bergen A A, Pinckers A J
机构信息
The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands.
出版信息
Am J Hum Genet. 1997 Jun;60(6):1468-73. doi: 10.1086/515458.
Abstract
Clinical reexamination and DNA linkage analysis were carried out in an X-linked progressive cone dystrophy (XLPCD) family, previously described by Pinckers and Timmerman in 1981. In a large pedigree segregating XLPCD, by use of > or = 27 markers spanning the entire X chromosome, a novel locus for XLPCD was identified in Xq27. All other regions on the chromosome could be excluded. Since this novel locus is distinct from previously identified genes or regions involved in XLPCD, we further establish genetic heterogeneity underlying this disease entity.
摘要
对一个X连锁进行性视锥细胞营养不良（XLPCD）家系进行了临床复查和DNA连锁分析，该家系曾在1981年由平克斯和蒂默曼描述过。在一个分离XLPCD的大家系中，使用跨越整个X染色体的≥27个标记，在Xq27中鉴定出一个新的XLPCD基因座。染色体上的所有其他区域均可排除。由于这个新基因座与先前确定的参与XLPCD的基因或区域不同，我们进一步确定了这种疾病实体背后的遗传异质性。
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