绘制唐氏综合征染色体区域图谱。构建一个跨越1.2兆碱基的酵母人工染色体连续群。

Mapping the Down syndrome chromosome region. Establishment of a YAC contig spanning 1.2 megabases.

作者信息

Crété N, Gosset P, Théophile D, Duterque-Coquillaud M, Blouin J L, Vayssettes C, Sinet P M, Créau-Goldberg N

机构信息

URA 1335 CNRS, Hôpital, Necker-Enfants-Malades, Paris, France.

出版信息

Eur J Hum Genet. 1993;1(1):51-63. doi: 10.1159/000472387.

DOI:10.1159/000472387

PMID:8069651

Abstract

The triplication of a region of chromosome 21 around D21S55 in 21q22.2-22.3 has been involved in the main features of Down syndrome including mental retardation (Down syndrome chromosome region: DCR). To improve the physical map of this region, we screened yeast artificial chromosome (YAC) libraries with ETS2 and ERG sequences. Five selected clones were analyzed by AluPCR, pulsed-field gel electrophoresis, and in situ hybridization. A 1.2-Mg contig, encompassing the protooncogenes ETS2 and ERG, was identified, its restriction map established and compared to the genomic map. ERG is distal to D21S55 and proximal to ETS2. ERG and ETS2 genes are 400 kb apart and in opposite orientations. The contig contains the distal boundary and part of the DCR. Three putative HTF islands were identified.

摘要

21号染色体21q22.2 - 22.3区域中围绕D21S55的一段区域的三倍体与唐氏综合征的主要特征有关，包括智力迟钝（唐氏综合征染色体区域：DCR）。为了完善该区域的物理图谱，我们用ETS2和ERG序列筛选了酵母人工染色体（YAC）文库。通过AluPCR、脉冲场凝胶电泳和原位杂交对五个选定的克隆进行了分析。鉴定出一个包含原癌基因ETS2和ERG的1.2兆碱基重叠群，建立了其限制酶图谱并与基因组图谱进行了比较。ERG位于D21S55的远端且在ETS2的近端。ERG和ETS2基因相距400千碱基且方向相反。该重叠群包含DCR的远端边界和部分区域。鉴定出三个假定的HTF岛。