一个包含色素性视网膜炎（RS）、角膜弯曲症合并鱼鳞病（KFSD）、先天性淋巴细胞缺乏症（CLS）、低磷血症（HYP）和视网膜色素变性15型（RP15）疾病位点的Xp22.1 - p22.2酵母人工染色体（YAC）重叠群：RS的精细定位

An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.

作者信息

Van de Vosse E, Bergen A A, Meershoek E J, Oosterwijk J C, Gregory S, Bakker B, Weissenbach J, Coffey A J, van Ommen G J, Den Dunnen J T

机构信息

MGC-Department of Human Genetics, Leiden University, UK.

出版信息

Eur J Hum Genet. 1996;4(2):101-4. doi: 10.1159/000472177.

DOI:10.1159/000472177

PMID:8744027

Abstract

To facilitate the positional cloning of the genes involved in retinoschisis (RS), keratosis follicularis spinulosa decalvans (KFSD), Coffin-Lowry syndrome (CLS), X-linked hypophosphatemic rickets (XLH, locus name HYP) and X-linked dominant cone-rod degeneration (locus name RP15), we have extended the molecular map of the Xp22 region. Screening of several YAC libraries allowed us to identify 156 YACs, 52 of which localize between markers DXS414 (P90) and DXS451 (kQST80H1). Analysis of their marker content facilitated the construction of a YAC contig from the region spanning (in this order): DXS414 - DXS987 - DXS207 - DXS1053 - DXS197 - DXS 43 - DXS1195 - DXS418 - DXS999 - PDHA1 - DXS7161 - DXS443 - DXS 7592 - DXS1229 - DXS365 - DXS7101 - DXS7593 - DXS1052 - DXS274 - DXS989 - DXS451. The region between DXS414 and DXS451 covers about 4.5-5 Mb. Two additional markers (DXS7593 and DXS7592) were placed in the region, thereby increasing the genetic resolution. Using the deduced marker order, the analysis of key recombinants in families segregating RS allowed us to refine the critical region for RS to 0.6 Mb, between DXS418 and DXS7161.

摘要

为了便于对视网膜劈裂症（RS）、毛囊角化病（KFSD）、科芬-洛里综合征（CLS）、X连锁低磷血症性佝偻病（XLH，基因座名称HYP）以及X连锁显性视锥-视杆细胞营养不良（基因座名称RP15）相关基因进行定位克隆，我们扩展了Xp22区域的分子图谱。对多个酵母人工染色体（YAC）文库进行筛选，使我们鉴定出156个YAC，其中52个定位于标记DXS414（P90）和DXS451（kQST80H1）之间。对它们所含标记的分析有助于构建一个YAC重叠群，该区域依次跨越：DXS414 - DXS987 - DXS207 - DXS1053 - DXS197 - DXS 43 - DXS1195 - DXS418 - DXS999 - PDHA1 - DXS7161 - DXS443 - DXS 7592 - DXS1229 - DXS365 - DXS7101 - DXS7593 - DXS1052 - DXS274 - DXS989 - DXS451。DXS414和DXS451之间的区域覆盖约4.5 - 5兆碱基对（Mb）。另外两个标记（DXS7593和DXS7592）被定位到该区域，从而提高了遗传分辨率。利用推导的标记顺序，对RS家系中的关键重组体进行分析，使我们能够将RS的关键区域细化至0.6 Mb，位于DXS418和DXS7161之间。