Cytogenetic mapping of a novel locus for type II Waardenburg syndrome
Cytogenetic mapping of a novel locus for type II Waardenburg syndrome
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DOI：
10.1007/s00439-001-0643-9
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发表时间：
2002-01-01
期刊：
影响因子：
5.3
通讯作者：
Pizzuti, A
中科院分区：
文献类型：
--
作者：
Selicorni, A;Guerneri, S;Pizzuti, A
研究了一个意大利家系，其中Waardenburg综合征II型（WS 2）与der（8）染色体一起分离，来自（4p; 8 p）平衡易位。通过涂染和亚端粒探针杂交的细胞遗传学分析将8号染色体断裂点定位在p22-pter。荧光原位杂交分析与酵母人工染色体从重叠群跨越8 p21-pter区域细化断点之间的间隔小于170 kb的标记WI-3823和D8 S1819。WS 2的唯一克隆基因是染色体3 p上的小眼症基因（MITF）。在该家族中，通过测序整个编码区排除MITF突变。8 p23区域可能代表WS 2的第三个基因座（WS 2C）。
An Italian family in which Waardenburg syndrome type II (WS2) segregates together with a der(8) chromosome from a (4p;8p) balanced translocation was studied. Cytogenetic analysis by painting and subtelomeric probe hybridization positioned the chromosome 8 breakpoint at p22-pter. Fluorescence in situ hybridization analysis with yeast artificial chromosomes from a contig spanning the 8p21 -pter region refined the breakpoint in an interval of less than 170 kb between markers WI-3823 and D8S1819. The only cloned gene for WS2 is that for microphtalmia (MITF) on chromosome 3p. In this family, MITF mutations were excluded by sequencing the whole coding region. The 8p23 region may represent a third locus for WS2 (WS2C).