新的多态性和新的染色体断点确定了DXS98 - FRAXA区间内DXS369的物理图谱和遗传图谱。
New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA interval.
作者信息
Oberlé I, Vincent A, Abbadi N, Rousseau F, Hupkes P E, Hors-Cayla M C, Gilgenkrantz S, Oostra B A, Mandel J L
机构信息
Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, Unité 184 de Biologie Moléculaire et de Génie Génétique de l'INSERM, Faculté de Médecine, Strasbourg, France.
出版信息
Am J Med Genet. 1991 Feb-Mar;38(2-3):336-42. doi: 10.1002/ajmg.1320380234.
Recently some of us cloned a new probe RN1 (DXS369), which appears a close marker for the fragile X locus (FRAXA) [Oostra et al.: Genomics 1990]. We present here new evidence for its physical and genetic mapping in the DXS98--FRAXA interval. We used 2 different somatic cell hybrid lines with breakpoints in the Xq27-q28 region: L10B Rea and PeCHN, and we established the order: (DXS105, DXS98)-L10B Rea-DXS369-PeCHN- (DXS304, DXS52). We detected an additional TaqI RFLP at the DXS369 locus which increases its informativeness up to 57%. Two point linkage analysis in a large set of families gave high lod scores for the FRAXA-DXS369 linkage (z(theta) = 10.1 at theta = 0.044) and for DXS369-DXS304, a marker distal to FRAXA (z = 19.2 at theta = 0.070). By multipoint analyses we established the localization of DXS369 in the DXS98-FRAXA interval. DXS369 is a much closer proximal marker for FRAXA than DXS105 or DXS98 and any new probe mapping between the breakpoints in L10B Rea and PeCHN will be of potential interest as a marker for FRAXA.
最近我们中的一些人克隆了一种新的探针RN1（DXS369），它似乎是脆性X位点（FRAXA）的紧密标记物[奥斯特拉等人：《基因组学》，1990年]。我们在此展示了其在DXS98 - FRAXA区间进行物理和遗传定位的新证据。我们使用了2种在Xq27 - q28区域具有断点的不同体细胞杂交系：L10B Rea和PeCHN，并确定了顺序：（DXS105，DXS98）-L10B Rea - DXS369 - PeCHN - （DXS304，DXS52）。我们在DXS369位点检测到一个额外的TaqI限制性片段长度多态性，这使其信息含量增加到57%。在大量家系中进行的两点连锁分析给出了FRAXA - DXS369连锁的高lod分数（在θ = 0.044时，z(θ) = 10.1）以及DXS369 - DXS304（FRAXA远端的一个标记物）的高lod分数（在θ = 0.070时，z = 19.2）。通过多点分析，我们确定了DXS369在DXS98 - FRAXA区间的定位。对于FRAXA而言，DXS369是比DXS105或DXS98更近端的标记物，并且在L1OB Rea和PeCHN的断点之间定位的任何新探针作为FRAXA的标记物都将具有潜在的研究价值。
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