Minute chromosomes replacing the Y chromosome carry Y-specific sequences by restriction fragment analysis and in situ hybridization.

Minute chromosomes replacing the Y chromosome carry Y-specific sequences by restriction fragment analysis and in situ hybridization.
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通过限制性片段分析和原位杂交,取代 Y 染色体的微小染色体携带 Y 特异性序列。

DOI:
10.1002/ajmg.1320220221
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发表时间:
1985
期刊:
American journal of medical genetics
影响因子:
--
通讯作者:
Francke,U
Francke,U
中科院分区:
--
文献类型:
--
作者:
Munke,M;deMartinville,B;Lieber,E;Francke,U

文献摘要

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两名没有血缘关系的男性,一名43岁的无精子症男子和一名身高达到10百分位数的4岁男孩,有类似的核型:46,X,min。G-、C-和Q-显带方法显示分析的所有细胞的分钟数染色较弱。为了阐明它们的来源,我们使用了分子技术:在两个个体的总基因组DNA的HAIII消化中,没有检测到Y特异的重复序列。然而,用pDP31探针进行的限制性片段分析表明,患者的DNA中含有Y-特异性片段。与同一探针的原位杂交显示,这些序列存在于微小染色体上,没有被转移到其他地方。
Two unrelated males, a 43‐year‐old man with azoospermia and a 4‐year‐old boy with stature at the 10th centile, had similar karyotypes: 46,X,min. The minutes, present in all cells analyzed, stained weakly with G‐, C‐, and Q‐banding methods. To elucidate their origin we used molecular techniques: InHaeIIIdigests of total genomic DNA from both individuals, no Y‐specific reiterated sequences were detected. However, restriction fragment analysis with probe pDP31 demonstrated that the patients' DNA contained the Y‐specific fragment. In situ hybridization with the same probe showed that these sequences were present on the minute chromosomes and have not been translocated elsewhere.