The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers
The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers
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t(11;22)(q23;q11) 结构易位断点的位置在其载体之间是保守的
DOI：
10.1007/s004390100560
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发表时间：
2001
期刊：
影响因子：
5.3
通讯作者：
J. Dumanski
中科院分区：
文献类型：
--
作者：
I. Tapia;M. Kost;P. Hu;B. Roe;E. Blennow;L. Fedorova;S. Imreh;J. Dumanski
抽象。t（11;22）（q23;q11）易位是人类中最常见的复发性平衡易位。携带者的表型是正常的，通常在不孕症调查或染色体不平衡的后代出生后才被诊断出来。t（11;22）的有效诊断对于易位携带者所生的孩子以及产前和植入前诊断是重要的。22号染色体上的易位断裂点位于含有低拷贝重复的区域内，并且该位点是该染色体序列中最后未填充的空位之一。该常染色体含有多个其他低拷贝重复序列，这些重复序列已被完全测序。我们报告了一个联合测序和纤维FISH断裂点表征五易位携带者。从一个载体中构建了粘粒文库，并对两个嵌合的互补序列（cos4_der11和cos6_der22）进行了测序，结果表明两条染色体上都存在强回文重复序列（或反向重复序列）。易位断裂点出现在两个反向重复序列的顶端。第22号和第11号染色体上的回文序列分别由852和166个碱基组成。四个额外的载体进行了研究，使用光纤FISH的分辨率限制为2 kb。在DNA序列水平上或在纤维FISH水平上的断裂点分析表明，它们发生在所有五个携带者的两条染色体上的相同位置。使用cos6_der22，PAC 158 L19和BAC 3009 A19，我们证明了FISH在t（11;22）的分子诊断中是一种有吸引力的替代方法，因为PCR检测由于存在大量低拷贝重复而不可靠。
Abstract. The t(11;22)(q23;q11) translocation is the most common recurrent balanced translocation described in humans. Carriers are phenotypically normal and often go undetected until diagnosis as a result of infertility investigations or following the birth of chromosomally unbalanced offspring. Efficient diagnostics of t(11;22) is important for children born to carriers of the translocation and for prenatal and pre-implantation diagnosis. The translocation breakpoint on chromosome 22 is located within a region containing low copy repeats, and this site is one of the last unfilled gaps in the sequence of this chromosome. This autosome harbors multiple other low copy repeats, which have been entirely sequenced. We report a combined sequencing and fiber FISH breakpoint characterization in five translocation carriers. From one carrier a cosmid library was constructed, and two chimeric cosmids (cos4_der11 and cos6_der22) were sequenced, which showed that strong palindromes (or inverted repeats) occur on both chromosomes. The translocation breakpoints occur at the tip of both inverted repeats. The palindrome on chromosomes 22 and 11 is composed of 852 and 166 bases, respectively. Four additional carriers were studied using fiber FISH with a resolution limit of 2 kb. Analysis of breakpoints on the DNA sequence level, or at the level of fiber FISH, indicate that they occur at the same position on both chromosomes in all five carriers. Using cos6_der22, PAC 158L19 and BAC 3009A19, we demonstrate that FISH is an attractive alternative in molecular diagnostics of t(11;22), as PCR assays are not reliable, due to the presence of numerous copies of low copy repeats.
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影响因子：
9.8
作者：
Edelmann, L;Pandita, RK;Morrow, BE
通讯作者：
Morrow, BE
“一种将 DNA 限制性内切酶片段放射性标记至高比活性的技术”。
影响因子：
2.9
作者：
Feinberg,AP;Vogelstein,B
通讯作者：
Vogelstein,B
DOI：
10.1073/pnas.93.2.819
发表时间：
1996-01-23
影响因子：
11.1
作者：
Bi, X;Liu, LF
通讯作者：
Liu, LF
影响因子：
9.8
作者：
Edelmann, L;Spiteri, E;Morrow, BE
通讯作者：
Morrow, BE
影响因子：
9.8
作者：
Kurahashi, H;Shaikh, TH;Emanuel, BS
通讯作者：
Emanuel, BS