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从人类13号染色体中分离并对揭示多态性位点的DNA片段进行区域定位。

Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13.

作者信息

Cavenee W, Leach R, Mohandas T, Pearson P, White R

出版信息

Am J Hum Genet. 1984 Jan;36(1):10-24.

PMID:6320640
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684373/
Abstract

A recombinant DNA library enriched for portions of human chromosome 13 has been constructed from a hamster-human somatic cell hybrid that contained human chromosomes 13, 12, and 6p. A total of 733 phages were identified that contain human DNA inserts, and 46 single-copy subfragments have been derived and used as probes on Southern transfers of genomic DNA isolated from unrelated individuals. From this set, nine fragments revealing polymorphic loci (RFLP) in Msp I- or Taq I-digested DNA have been identified, of which three are polymorphic with both enzymes. Six of these probes have been shown to segregate concordantly with human chromosome 13 in a somatic cell hybrid mapping panel, and the RFLPs at these loci have been shown to behave as codominant Mendelian alleles. Additionally, hybridization to DNA isolated from cells containing various deletions of chromosome 13 has allowed regional localization. This recombinant DNA library will be useful in the study of retinoblastoma as well as in the study of the mechanisms responsible for abnormalities of this autosome.

摘要

一个富含人类13号染色体部分片段的重组DNA文库，是从一个含有人类13号、12号染色体以及6号染色体短臂的仓鼠-人类体细胞杂种构建而来的。总共鉴定出733个含有人类DNA插入片段的噬菌体，从中获得了46个单拷贝亚片段，并将其用作探针，对从无关个体中分离出的基因组DNA进行Southern印迹杂交。从这一组探针中，已鉴定出9个在经Msp I或Taq I消化的DNA中显示多态性位点（RFLP）的片段，其中3个片段对这两种酶均表现出多态性。这些探针中的6个已被证明在体细胞杂种定位板中与人类13号染色体协同分离，并且这些位点的RFLP表现为共显性孟德尔等位基因。此外，与从含有13号染色体各种缺失的细胞中分离出的DNA进行杂交，已实现区域定位。这个重组DNA文库将有助于视网膜母细胞瘤的研究，以及负责这条常染色体异常的机制的研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe4b/1684373/be1c9684917b/ajhg00163-0022-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe4b/1684373/131e42e413c0/ajhg00163-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe4b/1684373/842974e92b4c/ajhg00163-0017-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe4b/1684373/baf8a56fa128/ajhg00163-0018-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe4b/1684373/bad612775951/ajhg00163-0020-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe4b/1684373/be1c9684917b/ajhg00163-0022-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe4b/1684373/131e42e413c0/ajhg00163-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe4b/1684373/842974e92b4c/ajhg00163-0017-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe4b/1684373/baf8a56fa128/ajhg00163-0018-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe4b/1684373/bad612775951/ajhg00163-0020-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe4b/1684373/be1c9684917b/ajhg00163-0022-a.jpg

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本文引用的文献

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Am J Hum Genet. 1985 Jul;37(4):635-49.
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Genomic imprinting of the human serotonin-receptor (HTR2) gene involved in development of retinoblastoma.参与视网膜母细胞瘤发生发展的人类血清素受体（HTR2）基因的基因组印记。
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Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies.通过连锁和纯合性研究对导致家族性地中海热的基因进行精细定位。
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