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常染色体显性遗传性视网膜色素变性在7号染色体p臂上的定位（RP9）的进一步细化。

Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).

作者信息

Inglehearn C F, Keen T J, al-Maghtheh M, Gregory C Y, Jay M R, Moore A T, Bird A C, Bhattacharya S S

机构信息

Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom.

出版信息

Am J Hum Genet. 1994 Apr;54(4):675-80.

PMID:8128965
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1918098/
Abstract

A form of autosomal dominant retinitis pigmentosa (adRP) mapping to chromosome 7p was recently reported by this laboratory, in a single large family from southeastern England. Further sampling of the family and the use a number of genetic markers from 7p have facilitated the construction of a series of multipoint linkage maps of the region with the most likely disease gene location. From this and haplotype data, the locus can now be placed between the markers D7S484 and D7S526, in an interval estimated to be 1.6-4 cM. Genetic distances between the markers previously reported to be linked to this region and those described in the recent whole-genome poly-CA map were estimated from data in this and other families. These data should assist in the construction of a physical map of the region and will help to identify candidate genes for the 7p adRP locus.

摘要

本实验室最近报道了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7号染色体短臂（7p），来自英格兰东南部的一个大家族。对该家族进一步取样，并使用来自7p的一些遗传标记，有助于构建该区域一系列多点连锁图谱，确定最可能的疾病基因位置。根据这些数据和单倍型数据，该基因座现在可定位在标记D7S484和D7S526之间，估计区间为1.6 - 4厘摩（cM）。根据本家族及其他家族的数据，估算了先前报道的与该区域连锁的标记与最近全基因组多聚CA图谱中描述的标记之间的遗传距离。这些数据将有助于构建该区域的物理图谱，并有助于确定7p adRP基因座的候选基因。

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本文引用的文献

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Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q.常染色体显性遗传性视网膜色素变性基因定位于7号染色体长臂。
Nat Genet. 1993 May;4(1):54-8. doi: 10.1038/ng0593-54.
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A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.7号染色体短臂上常染色体显性遗传性视网膜色素变性的一个新基因座。
Nat Genet. 1993 May;4(1):51-3. doi: 10.1038/ng0593-51.
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Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.人类视网膜变性慢（RDS）基因的突变可导致色素性视网膜炎或黄斑营养不良。
Nat Genet. 1993 Mar;3(3):213-8. doi: 10.1038/ng0393-213.
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Nature. 1990 Jan 25;343(6256):364-6. doi: 10.1038/343364a0.
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Dinucleotide repeat polymorphisms at the D7S435 and D7S440 loci.位于D7S435和D7S440位点的二核苷酸重复多态性
Nucleic Acids Res. 1990 Jul 11;18(13):4039. doi: 10.1093/nar/18.13.4039.
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Rhodopsin mutations in autosomal dominant retinitis pigmentosa.常染色体显性遗传性视网膜色素变性中的视紫红质突变
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Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.常染色体显性视网膜色素变性患者中视紫红质基因的突变谱
Proc Natl Acad Sci U S A. 1991 Oct 15;88(20):9370-4. doi: 10.1073/pnas.88.20.9370.

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