A second recombination hotspot associated with SHOX deletions.
A second recombination hotspot associated with SHOX deletions.
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第二个重组热点与 SHOX 缺失相关。
DOI：
10.1086/500958
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发表时间：
2006
影响因子：
9.8
通讯作者：
Ross,JudithL
中科院分区：
文献类型：
--
作者：
Zinn,AndrewR;Ramos,Purita;Ross,JudithL
我们饶有兴趣地阅读了“在身材矮小和SHOX缺乏症患者中识别主要的消化热点”（Schneider et al. 2005）。我们根据身材矮小和/或Madelung腕部畸形，对30例不相关的受试者进行了特征描述，这些受试者均来自美国和加拿大诊所确定的Leri-Weill软骨发育不良（LWD [MIM 127300]），这些诊所专注于遗传学、儿科内分泌学和骨科手外科手术（Ross等人，2001）。排除核型异常的患者。通过FISH用cosmos LLNOYCO 3 M 34 F5和/或LLNOYCO 3 M 15 D10鉴定SHOX [MIM 312865]缺失（Rao等人，1997年），如其他地方所述（Wei等人，2001），通过对SHOX-CA微卫星标记进行基因分型，（贝林et al. 1998），位于人X染色体的核苷酸540504-540660（2004年5月; hg 17）组装（UCSC Genome Browser），或通过多个基因内SNP的纯合性的商业诊断测试（SHOX-DNA-Dx [Esoterix Endocrinology]）。删除的特征如下。我们使用GDB人类基因组数据库中选择的荧光标记引物，通过毛细管电泳对先证者和可用的父母分别进行假常染色体标记物DXYS 233和DXYS 234的基因分型，所述标记物分别位于X染色体（hg 17）的核苷酸868388-868748和1711448-1711779。显示不同大小的两个等位基因的标记被评分为“未缺失”。如果系谱检查显示亲本等位基因的非遗传性，则仅显示一个大小等位基因的标记被评分为“缺失”（半合子），或者如果不能排除纯合性，则被评分为“无信息”。表1显示了先证者SW 575及其父母的代表性基因分型数据。显然，该先证者从其父亲遗传了SHOX-CA和DXYS 233的无效等位基因，这意味着包含这两个标记的缺失（SHOX的缺失通过FISH证实;数据未显示）。DXYS 234在该家系中无信息。我们还为11名先证者或其一级亲属生成了保留删除的X染色体但不保留其他人类性染色体的人-仓鼠体细胞杂交克隆，并使用根据公开可用的假常染色体序列设计的PCR测定，通过STS内容作图（表2）绘制了缺失图。所有PCR均从阳性对照（仅X杂交GM 06318）和先证者基因组DNA中得到预期产物，而仓鼠DNA中无产物。最后，我们用BAC RPCI 3 - 431 I1通过FISH定位了一个先证者中靠近DXYS 234的缺失断裂点，靠近假常染色体边界（Ross et al. 2000）。（2005年）。DXYS 233在我们提供信息的26例病例中有17例（65%）缺失，而Schneider等报道的33例病例中有6例（18%）缺失。（2005年）。相比之下，在我们的样本中（3/27; 11%）和Schneider等人的样本中，包含DXYS 234的缺失比例相似。（2005）（4/31; 13%），从他们的图1中推断（DXYS 234图谱恰好接近ANT 3）。我们的基因分型和STS内容地图-
We read with interest “Identification of a Major Recombination Hotspot in Patients with Short Stature and SHOX Deficiency”(Schneider et al. 2005). We have characterized 30 unrelated subjects—from kindreds with Leri-Weill dyschondrosteosis (LWD [MIM 127300]) ascertained from US and Canadian clinics focused on genetics, pediatric endocrinology, and orthopedic hand surgery—on the basis of short stature and/or Madelung wrist deformity (Ross et al. 2001). Patients with karyotypic abnormalities were excluded. SHOX [MIM 312865] deletions were identified by FISH with cosmids LLNOYCO3 M 34F5 and/or LLNOYCO3 M 15D10 (Rao et al. 1997), as described elsewhere (Wei et al. 2001), by genotyping the SHOX-CA microsatellite marker (Belin et al. 1998), located at nucleotides 540504–540660 of the human X chromosome (May 2004; hg17) assembly (UCSC Genome Browser), or by a commercial diagnostic test for homozygosity of multiple intragenic SNPs (SHOX-DNA-Dx [Esoterix Endocrinology]). Deletions were characterized as follows. We genotyped probands and available parents for pseudoautosomal markers DXYS233 and DXYS234, respectively, located at nucleotides 868388–868748 and 1711448–1711779 of the X chromosome (hg17), by capillary electrophoresis by use of fluorescent-labeled primers selected from the GDB Human Genome Database. Markers that showed two alleles of distinct size were scored as “not deleted.” Markers that showed only one size allele were scored as “deleted”(hemizygous) if inspection of the pedigree revealed noninheritance of a parental allele or as “uninformative” if homozygosity could not be excluded. Table 1 shows representative genotyping data for proband SW575 and her parents. It is apparent that this proband inherited null alleles of SHOX-CA and DXYS233 from her father, which implies a deletion encompassing both these markers (deletion of SHOX was confirmed by FISH; data not shown). DXYS234 was uninformative in this kindred. We also generated human-hamster somatic-cell hybrid clones that retained the deleted X chromosome but not the other human sex chromosome, for 11 probands or their first-degree relatives, and we mapped the deletions by STS content mapping (table 2), using PCR assays designed from publicly available pseudoautosomal sequence. All PCRs gave the expected product from a positive control (X-only hybrid GM06318) and from probands’ genomic DNA and no product from hamster DNA. Finally, we mapped the deletion breakpoint proximal to DXYS234 in one proband, by FISH, with BAC RPCI3-431I1, near the pseudoautosomal boundary (Ross et al. 2000).Our results (table 3) differed markedly from those reported by Schneider et al.(2005). DXYS233 was deleted in 17 (65%) of 26 of our informative cases, as compared with 6 (18%) of 33 cases reported by Schneider et al.(2005). By contrast, a similarly small proportion of deletions encompassed DXYS234 in our sample (3/27; 11%) and that of Schneider et al.(2005)(4/31; 13%), inferred from their figure 1 (DXYS234 maps just proximal to ANT3). Our genotyping and STS content-map-
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影响因子：
9.8
作者：
Ross, JL;Roeltgen, D;Zinn, AR
通讯作者：
Zinn, AR
DOI：
10.1210/jcem.86.12.8125
发表时间：
2001-12
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
Judith L. Ross;Charles I. Scott;Pia Marttila;Karen Kowal;Andrea Nass;Peter Papenhausen;Jack Abboudi;Lee Osterman;Harvey Kushner;Peter R. Carter;Marybeth Ezaki;Frederick F.B. Elder;Fanglin Wei;Huaqun Chen;A. Zinn
通讯作者：
Judith L. Ross;Charles I. Scott;Pia Marttila;Karen Kowal;Andrea Nass;Peter Papenhausen;Jack Abboudi;Lee Osterman;Harvey Kushner;Peter R. Carter;Marybeth Ezaki;Frederick F.B. Elder;Fanglin Wei;Huaqun Chen;A. Zinn
重组热点的识别...
DOI：
--
发表时间：
2011
期刊：
影响因子：
--
作者：
Ohye T;Inagaki H;Kogo H;et al.
通讯作者：
et al.
基因重复作为人类拟常染色体区域 1 进化中反复出现的主题：基因 ASMTL 的分离。
影响因子：
3.5
作者：
K. Ried;E. Rao;K. Schiebel;G. Rappold
通讯作者：
G. Rappold