Comprehensive DNA copy number profile and BAC library construction of an Indian individual

被引：6

作者：

Chakrabarty, Sanjiban ^{[1
]}

D'Souza, Reena R. ^{[1
]}

Bellampalli, Ravishankara ^{[1
]}

Rotti, Harish ^{[1
]}

Saadi, Abdul V. ^{[1
]}

Gopinath, Puthiya M. ^{[1
]}

Acharya, Raviraja V. ^{[2
]}

Govindaraj, Periyasamy ^{[3
]}

Thangaraj, Kumarasamy ^{[3
]}

Satyamoorthy, Kapaettu ^{[1
]}

机构：

[1] Manipal Univ, Manipal Life Sci Ctr, Div Biotechnol, Manipal 576104, Karnataka State, India

[2] Manipal Univ, Dept Med, Kasturba Med Coll, Manipal 576104, Karnataka State, India

[3] Ctr Cellular & Mol Biol, Hyderabad 500007, Andhra Pradesh, India

来源：

GENE | 2012年 / 500卷 / 02期

关键词：

Bacterial artificial chromosome; BAC; Array based CGH; Copy number variation; Taqman assay; Fluorescent in situ hybridization; COMPARATIVE GENOMIC HYBRIDIZATION; ARRAY CGH; STRUCTURAL VARIATION; SEQUENCE; ASSOCIATION; CLONING; REGION; FISH;

D O I：

10.1016/j.gene.2012.03.054

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Bacterial artificial chromosomes (BACs) are used in genomic variation studies due to their capacity to carry a large insert, their high clonal stability, low rate of chimerism and ease of manipulation. In the present study, an attempt was made to create the first genomic BAC library of an anonymous Indian male (IMBL4) consisting of 100224 clones covering the human genome more than three times. Restriction mapping of 255 BAC clones by pulse field gel electrophoresis confirmed an average insert size of 120 kb. The library was screened by PCR using SHANK3 (SH3 and multiple ankyrin repeat domains 3) and OLFM3 (olfactomedin 3) specific primers. A selection of clones was analyzed by fluorescent in situ hybridization (FISH) and sequencing. Fine mapping of copy number variable regions by array based comparative genomic hybridization identified 467 CNVRs in the IMBL4 genome. The IMBL4 BAC library represents the first cataloged Indian genome resource for applications in basic and clinical research. (C) 2012 Elsevier RV. All rights reserved.

引用

页码：186 / 193

页数：8

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