A Definitive Haplotype Map as Determined by Genotyping Duplicated Haploid Genomes Finds a Predominant Haplotype Preference at Copy-Number Variation Events

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A Definitive Haplotype Map as Determined by Genotyping Duplicated Haploid Genomes Finds a Predominant Haplotype Preference at Copy-Number Variation Events

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Kyushu Univ. Production Kyushu Univ. Production
Responsibility:
Kukita, Yoji(Research Institute, Osaka Medical Center for Cancer and Cardiovascular Diseases)
久木田, 洋児(大阪府立成人病センター研究所)
Yahara, Koji(Division of Life Science System, Fujitsu Kyushu Systems Inc.)

矢原, 耕史(株式会社富士通九州システムズ | 九州大学生体防御医学研究所附属遺伝情報実験センター ゲノム構造学分野)
Tahira, Tomoko(Division of Genome Analysis, Research Center for Genetic Information, Kyushu University)
田平, 知子
Higasa, Koichiro(Division of Genome Analysis, Research Center for Genetic Information, Kyushu University)
日笠, 幸一郎(九州大学生体防御医学研究所附属遺伝情報実験センター ゲノム構造学分野)
Sonoda, Miki(Division of Molecular Population Genetics, Kyushu University)
園田, 美紀(九州大学生体防御医学研究所附属遺伝情報実験センター ゲノム集団遺伝学分野)
Yamamoto, Ken(Division of Molecular Population Genetics, Kyushu University)
山本, 健(九州大学生体防御医学研究所附属遺伝情報実験センター ゲノム集団遺伝学分野)
Kato, Kiyoko(Division of Molecular and Cell Therapeutics, Medical Institute of Bioregulation, Kyushu University)
加藤, 聖子(九州大学生体防御医学研究所附属遺伝情報実験センター ゲノム創薬・治療学分野)
Wake, Norio(Department of Gynecology and Obstetrics, Graduate School of Medical Sciences, Kyushu University)
和氣, 徳夫(九州大学大学院医学研究院生殖病態生理学分野)
Hayashi, Kenshi(Division of Genome Analysis, Research Center for Genetic Information, Kyushu University)
林, 健志(九州大学生体防御医学研究所附属遺伝情報実験センター ゲノム構造学分野)

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Language:
English
Publication info:
The American Journal of Human Genetics. 86, (6), pp. 918-928, 2010-05-27. The American Society of Human Genetics.
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Abstract:
The majority of complete hydatidiform moles (CHMs) harbor duplicated haploid genomes that originate from sperm. This makes CHMs more advantageous than conventional diploid cells for determining haplotypes of single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) as all of the genetic variants in a CHM genome are homozygous. Here we report SNP/CNV haplotype structures determined by analyzing 100 CHMs from Japanese subjects using high-density DNA arrays. The obtained haplotype map should be useful as a reference for the haplotype structure of Asian populations. We resolved common CNV regions (merged CNV segments across the examined samples) into CNV events (clusters of CNV segments) on the basis of mutual overlap and found that the haplotype backgrounds of different CNV events within the same CNV region were predominantly similar, perhaps due to inherent structural instability. Read more
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