Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation.
Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation.
复制标题
Xq11-q12 中的大插入克隆/STS 重叠群，跨越雄激素不敏感和智力迟钝患者的缺失。
DOI：
10.1006/geno.2000.6180
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发表时间：
2000
期刊：
影响因子：
4.4
通讯作者：
Willard,HF
中科院分区：
文献类型：
--
作者：
Schueler,MG;Higgins,AW;Nagaraja,R;Tentler,D;Dahl,N;Gustashaw,K;Willard,HF
给出了Xq11-q12区域的大插入克隆图。包含着丝粒基因座DXZ1到DXS1125的几百个碱基内的标记的物理图谱在两个重叠群中跨越近5Mb，间隔估计为∼100-250kb。这些重叠群结合了75个酵母人工染色体克隆、12个细菌人工染色体克隆和17个来自P1的人工染色体克隆，以及81个STS或EST标记。整个区域的总标记密度为∼1sts/60kb。在重叠群中定位了12个EST和5个已知基因，即Moesin(MSN)、Hephestn(HEPH)、雄激素受体(AR)、寡分裂蛋白-1(OPHN1)和Eph配体-2(EPLG2)。X染色体上重叠群的方向，以及重叠群内的标记顺序，都是通过参考许多X染色体断点来明确确定的。此外，远端重叠群跨越了三名患者染色体上的缺失，这些患者要么表现为完全雄激素不敏感(CaI)，要么表现为邻接基因综合征，包括CAI、视力受损和智力低下。
An integrated large-insert clone map of the region Xq11–q12 is presented. A physical map containing markers within a few hundred kilobases of the centromeric locus DXZ1 to DXS1125 spans nearly 5 Mb in two contigs separated by a gap estimated to be ∼100–250 kb. The contigs combine 75 yeast artificial chromosome clones, 12 bacterial artificial chromosome clones, and 17 P1-derived artificial chromosome clones with 81 STS or EST markers. Overall marker density across this region is ∼1 STS/60 kb. Mapped within the contigs are 12 ESTs as well as 5 known genes, moesin (MSN), hephaestin (HEPH), androgen receptor (AR), oligophrenin-1 (OPHN1), and Eph ligand-2 (EPLG2). Orientation of the contigs on the X chromosome, as well as marker order within the contigs, was unambiguously determined by reference to a number of X chromosome breakpoints. In addition, the distal contig spans deletions from chromosomes of three patients exhibiting either complete androgen insensitivity (CAI) or a contiguous gene syndrome that includes CAI, impaired vision, and mental retardation.