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通过高分辨率双变量流式核型分析对染色体异态性的遗传分析。

Inheritance of chromosome heteromorphisms analyzed by high-resolution bivariate flow karyotyping.

作者信息

Trask B, van den Engh G, Gray J W

机构信息

Lawrence Livermore National Laboratory, Biomedical Sciences Division, Livermore, CA 94550.

出版信息

Am J Hum Genet. 1989 Nov;45(5):753-60.

Abstract

The DNA content of the mitotic chromosomes from 10 children and their parents in four families were quantified by bivariate flow karyotyping. In all cases, each chromosome peak in the flow karyotype of the child could be traced to one of the two parents. The measured absolute difference in homologue DNA content between children and their parents averaged 0.8%, or approximately 1 Mbp over all chromosome types. This study demonstrates that flow karyotypes of a proband's parents can be an aid in detecting and quantifying the size of de novo deletions that involve heteromorphic chromosome types.

摘要

通过双变量流式核型分析对四个家庭中10名儿童及其父母的有丝分裂染色体的DNA含量进行了定量分析。在所有情况下,儿童流式核型中的每个染色体峰都可以追溯到父母双方中的一方。在所有染色体类型中,儿童与其父母之间同源DNA含量的测量绝对差异平均为0.8%,约为1 Mbp。这项研究表明,先证者父母的流式核型有助于检测和定量涉及异型染色体类型的新生缺失的大小。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5b7/1683447/8a09d9060fa2/ajhg00108-0094-a.jpg

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