Guzzetta V, Franco B, Trask B J, Zhang H, Saucedo-Cardenas O, Montes de Oca-Luna R, Greenberg F, Chinault A C, Lupski J R, Patel P I
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
Genomics. 1992 Jul;13(3):551-9. doi: 10.1016/0888-7543(92)90124-b.
Somatic cell hybrids retaining the deleted chromosome 17 from 15 unrelated Smith-Magenis syndrome (SMS) [del(17)(p11.2p11.2)] patients were obtained by fusion of patient lymphoblasts with thymidine kinase-deficient rodent cell lines. Seventeen sequence-tagged sites (STSs) were developed from anonymous markers and cloned genes mapping to the short arm of chromosome 17. The STSs were used to determine the deletion status of these loci in these and four previously described human chromosome 17-retaining hybrids. Ten STSs were used to identify 28 yeast artificial chromosomes (YACs) from the St. Louis human genomic YAC library. Four of the 17 STSs identified simple repeat polymorphisms. The order and location of deletion breakpoints were confirmed and refined, and the regional assignment of several probes and cloned genes were determined. The cytogenetic band locations and relative order of six markers on 17p were established by fluorescence in situ hybridization mapping to metaphase chromosomes. The latter data confirmed and supplemented the somatic cell hybrid results. Most of the hybrids derived from [del(17)(p11.2p11.2)] patients demonstrated a similar pattern of deletion for the marker loci and were deleted for D17S446, D17S258, D17S29, D17S71, and D17S445. However, one of them demonstrated a unique pattern of deletion. This patient is deleted for several markers known to recognize a large DNA duplication associated with Charcot-Marie-Tooth (CMT) disease type 1A. These data suggest that the proximal junction of the CMT1A duplication is close to the distal breakpoint in [del(17)(p-11.2p11.2)] patients.
通过将患者淋巴细胞与胸苷激酶缺陷型啮齿动物细胞系融合，获得了保留来自15名无关的史密斯-马吉尼斯综合征（SMS）[del(17)(p11.2p11.2)]患者缺失的17号染色体的体细胞杂种。从位于17号染色体短臂上的匿名标记和克隆基因开发了17个序列标签位点（STS）。这些STS用于确定这些位点以及四个先前描述的保留人类17号染色体的杂种中的缺失状态。使用10个STS从圣路易斯人类基因组酵母人工染色体（YAC）文库中鉴定出28个YAC。17个STS中的4个鉴定出简单重复多态性。确认并完善了缺失断点的顺序和位置，并确定了几个探针和克隆基因的区域定位。通过荧光原位杂交定位到中期染色体，确定了17p上六个标记的细胞遗传学带位置和相对顺序。后者的数据证实并补充了体细胞杂种的结果。大多数源自[del(17)(p11.2p11.2)]患者的杂种在标记位点上表现出相似的缺失模式，并且在D17S446、D17S258、D17S29、D17S71和D17S445处缺失。然而，其中一个表现出独特的缺失模式。该患者缺失了几个已知可识别与1A型夏科-马里-图斯（CMT）病相关的大DNA重复的标记。这些数据表明，CMT1A重复的近端连接点靠近[del(17)(p-11.2p11.2)]患者的远端断点。
