在人类20号染色体短臂12区构建一个3.7兆碱基的物理图谱，对阿拉吉耶综合征基因座中的18个标记进行排序。

Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus.

作者信息

Pollet N, Dhorne-Pollet S, Deleuze J F, Boccaccio C, Driancourt C, Raynaud N, Le Paslier D, Hadchouel M, Meunier-Rotival M

机构信息

INSERM U347 affiliée au CNRS, Le Kremlin-Bicêtre, France.

出版信息

Genomics. 1995 Jun 10;27(3):467-74. doi: 10.1006/geno.1995.1078.

DOI:10.1006/geno.1995.1078

PMID:7558028

Abstract

Alagille syndrome (AGS, MIM 118450) is associated with human chromosome band 20p12. To study this region, we constructed a 3.7-Mb physical map using 36 YACs isolated from the CEPH YAC library with three sequence-tagged sites (STS): D20S503, D20S41, and D20S188. New STSs were obtained from 6 isolated YAC end-fragments. Eighteen markers were ordered on the contig as follows:20ptel-D20S177-D20S175-D20S509- D20S5/D20S503-D20S506-D20S162-D20S504- D20S505-D20S507-D20S188-(D20S6-D20S27- D20S189)-D20S186-D20S41-D20S61-D20S492- D20S508-20pcen. A restriction map with the enzymes AscI, MluI, NotI, SacII, and SfiI was generated, revealing seven putative CpG islands. We established a YAC contig that spans the AGS region and thus will be valuable for cloning candidate genes and searching for DNA polymorphisms segregating with this syndrome.

摘要

阿拉吉列综合征（AGS，MIM 118450）与人类染色体20p12带相关。为研究该区域，我们利用从CEPH YAC文库中分离出的36个YAC构建了一个3.7兆碱基的物理图谱，这些YAC带有三个序列标签位点（STS）：D20S503、D20S41和D20S188。从6个分离出的YAC末端片段中获得了新的STS。18个标记按以下顺序排列在重叠群上：20p端粒-D20S177-D20S175-D20S509-D20S5/D20S503-D20S506-D20S162-D20S504-D20S505-D20S507-D20S188-（D20S6-D20S27-D20S189）-D20S186-D20S41-D20S61-D20S492-D20S508-20p着丝粒。生成了用AscI、MluI、NotI、SacII和SfiI酶的限制酶图谱，揭示了7个推定的CpG岛。我们建立了一个跨越AGS区域的YAC重叠群，因此对于克隆候选基因和寻找与该综合征共分离的DNA多态性将是有价值的。