Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.
Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.
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Simpson-Golabi-Behmel 综合征与 Xq25-q27 的映射。
DOI：
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发表时间：
1994
影响因子：
3.5
通讯作者：
A. MacKenzie
中科院分区：
文献类型：
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作者：
J. Xuan;A. Besner;M. Ireland;R. Hughes;A. MacKenzie
GBS是一种X-连锁的发育不良综合征，其主要特征是面部粗糙和躯体过度生长，我们观察到这与胚胎肿瘤的风险增加有关。对两个SGBS激酶的X染色体进行了遗传连锁分析，发现它们均为X连锁显性遗传。Xq 26位点HPRT与SGBS的连锁关系最密切（Z max = 7.45，theta max = 0.00）。SGBS-Xq标记重组将疾病基因座映射到Xq 25-q27上的DXS 425-DXS 1123区间。这将疾病位点映射到一个已知包含先前在一个患有体细胞过度生长的年轻女孩中发现的特征性染色体易位断点的区域。这一观察结果可能对SGBS基因的克隆具有意义。
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked gigantism syndrome characterized primarily by a coarse facies and somatic overgrowth which we have observed to be associated with an increased risk for embryonal tumors. Genetic linkage analysis for two SGBS kindreds in which X linked dominant inheritance was observed has been conducted for the X chromosome. The closest linkage to SGBS was observed for the Xq26 locus HPRT (Z max = 7.45, theta max = 0.00). SGBS-Xq marker recombinations map the disease locus to the DXS425-DXS1123 interval on Xq25-q27. This maps the disease locus to a region known to contain a previously characterized chromosomal translocation breakpoint found in a young girl with somatic overgrowth. This observation may have implications for the cloning of the SGBS gene.