FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes
FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes
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FISH 缺失图谱在人类性染色体上的假常染色体区域 PAR1 中定义了 270 kb 身材矮小临界区间
DOI：
10.1007/s004390050497
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发表时间：
1997
期刊：
影响因子：
5.3
通讯作者：
G. A. Rappold
中科院分区：
文献类型：
--
作者：
Ercole Rao;B. Weiss;M. Fukami;A. Mertz;J. Meder;T. Ogata;Udo Heinrich;J. Garcia‐Heras;Katrin Schiebel;G. A. Rappold
摘要 最近在身材矮小的个体中发现了性染色体假常染色体区域 (PAR1) 的缺失，并且随后定义了 PAR1 内 700 kb 的最小常见缺失区域。我们克隆了以 Xp/Yp 端粒为界的整个区域，作为重叠的粘粒重叠群。在本研究中，我们使用荧光原位杂交（FISH）研究了四名 X 染色体重排患者，其中两名身高正常，两名身材矮小。基因型-表型相关性已将关键的“矮身材区间”缩小到 270 kb 的区域，其中包含对生长具有重要作用的基因。现在，桥接该间隔的 6-8 个粘粒的最小平铺路径可用于间期和中期 FISH，并为特发性身材矮小患者的诊断研究提供了宝贵的工具。
Abstract Deletions of the pseudoautosomal region (PAR1) of the sex chromosomes have recently been discovered in individuals with short stature, and a minimal common deletion region of 700 kb within PAR1 has subsequently been defined. We have cloned this entire region, which is bounded by the Xp/Yp telomere, as an overlapping cosmid contig. In the present study, we have used fluorescence in situ hybridization (FISH) to study four patients with X-chromosomal rearrangements, two with normal height and two with short stature. Genotype-phenotype correlations have narrowed down the the critical “short stature interval” to a 270-kb region containing the gene with an important role in growth. A minimal tiling path of 6–8 cosmids bridging this interval is now available for interphase and metaphase FISH and provides a valuable tool for diagnostic investigations of patients with idiopathic short stature.
人类 GM-CSF 受体 α 链基因 CSF2RA 在 X-Y 假常染色体区域内的排列和定位。
影响因子：
4.4
作者：
Rappold,G;Willson,TA;Henke,A;Gough,NM
通讯作者：
Gough,NM