一个与常染色体显性视网膜色素变性的RP13基因座相关的新家族，该基因座位于17号染色体短臂远端。
A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.
作者信息
Tarttelin E E, Plant C, Weissenbach J, Bird A C, Bhattacharya S S, Inglehearn C F
机构信息
Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
出版信息
J Med Genet. 1996 Jun;33(6):518-20. doi: 10.1136/jmg.33.6.518.
A form of autosomal dominant retinitis pigmentosa (ADRP) mapping to chromosome 17p has been reported in a single large South African family. We now report a new family with severe early onset ADRP which maps to 17p. Linkage and haplotype analysis in this family places the ADRP locus in the 5 cM interval between markers AFMc024za5 and D17S1845, confirming the data obtained in the South African family. The discovery of a second 17p linked family may imply that this is one of the more common loci for dominant RP. In addition, the confirmation of an RP diagnosis at this locus is of interest since loci for a dominant cone dystrophy and Leber's congenital amaurosis (LCA1) have recently been linked to the same markers. While the cone dystrophy locus may be allelic with RP, our data and that of Goliath et al show that distinct genes are responsible for dominant RP and Leber's congenital amaurosis on chromosome 17p.
在一个南非大家庭中曾报道过一种常染色体显性遗传性视网膜色素变性（ADRP），其基因定位于17号染色体短臂。我们现在报告一个新的严重早发性ADRP家族，该家族基因也定位于17号染色体短臂。对这个家族进行的连锁和单倍型分析将ADRP基因座定位于标记AFMc024za5和D17S1845之间5厘摩的区间内，这证实了在南非那个家族中获得的数据。发现第二个与17号染色体短臂连锁的家族可能意味着这是显性视网膜色素变性较常见的基因座之一。此外，在这个基因座确诊视网膜色素变性很有意义，因为最近一个显性视锥细胞营养不良基因座和莱伯先天性黑矇（LCA1）基因座也与相同的标记连锁。虽然视锥细胞营养不良基因座可能与视网膜色素变性等位，但我们的数据以及戈利亚斯等人的数据表明，17号染色体短臂上显性视网膜色素变性和莱伯先天性黑矇是由不同基因导致的。
Zotero 插件