Long contiguous stretches of homozygosity in the human genome
作者： Ling-Hui Li , Sheng-Feng Ho , Chien-Hsiun Chen , Chun-Yu Wei , Wan-Ching Wong
DOI: 10.1002/HUMU.20399
关键词:
摘要: Single nucleotide polymorphisms (SNPs) are the most common sequence variation in human genome; they have been successfully used mapping disease genes and more recently studying population genetics cancer genetics. In a population-based association study using high-density oligonucleotide arrays for whole-genome SNP genotyping, we discovered that genomes of unrelated Han Chinese, 34 out 515 (6.6%) individuals contained long contiguous stretches homozygosity (LCSHs), ranging size from 2.94 to 26.27 Mbp (10.22+/-5.95 Mbp). Four four (100%) Taiwan aborigines also demonstrated this genetic characteristic. The number LCSH regions increased markedly offspring consanguineous marriages. was detected Caucasian samples (11/42; 26.2%) African American (2/42; 4.76%). A total 26 were recurrently among aborigines, Caucasians. DNA copy determination by hybridization intensity analysis real-time quantitative PCR (qPCR) excluded deletion as cause LCSH. Our results suggest LCSHs genome outbred characteristic could significant impact on gene studies.
utsystem.edu参考文章(29)
Arcadi Navarro, Elodie Gazave, Inversions with classical style and trendy lines. Nature Genetics. ,vol. 37, pp. 115- 116 ,(2005) , 10.1038/NG0205-115
Jing Huang, Wen Wei, Jane Zhang, Guoying Liu, Graham R Bignell, Michael R Stratton, P Futreal, Richard Wooster, Keith W Jones, Michael H Shapero, Whole genome DNA copy number changes identified by high density oligonucleotide arrays. Human Genomics. ,vol. 1, pp. 287- 299 ,(2004) , 10.1186/1479-7364-1-4-287
Peter Devilee, Anne-Marie Cleton-Jansen, Cees J. Cornelisse, Ever since Knudson Trends in Genetics. ,vol. 17, pp. 569- 573 ,(2001) , 10.1016/S0168-9525(01)02416-7
Peter Parham, MHC class I molecules and kirs in human history, health and survival Nature Reviews Immunology. ,vol. 5, pp. 201- 214 ,(2005) , 10.1038/NRI1570
Eray Tuzun, Andrew J Sharp, Jeffrey A Bailey, Rajinder Kaul, V Anne Morrison, Lisa M Pertz, Eric Haugen, Hillary Hayden, Donna Albertson, Daniel Pinkel, Maynard V Olson, Evan E Eichler, Fine-scale structural variation of the human genome Nature Genetics. ,vol. 37, pp. 727- 732 ,(2005) , 10.1038/NG1562
Wen-Harn Pan, Cathy S.J. Fann, Jer-Yuarn Wu, Yung-Tai Hung, Mei-Shang Ho, Terence Hua Tai, Ying-Ju Chen, Chung-Ju Liao, Meng-Li Yang, Andrew Tai-Ann Cheng, Yuan-Tsong Chen, Han Chinese cell and genome bank in Taiwan: purpose, design and ethical considerations. Human Heredity. ,vol. 61, pp. 27- 30 ,(2006) , 10.1159/000091834
Wen-Hung Chung, Shuen-Iu Hung, Hong-Shang Hong, Mo-Song Hsih, Li-Cheng Yang, Hsin-Chun Ho, Jer-Yuarn Wu, Yuan-Tsong Chen, A marker for Stevens–Johnson syndrome Nature. ,vol. 428, pp. 486- 486 ,(2004) , 10.1038/428486A
Parry Guilford, Saida Ben Arab, Stéphane Blanchard, Jacqueline Levilliers, Jean Weissenbach, Ali Belkahia, Christine Petit, A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature Genetics. ,vol. 6, pp. 24- 28 ,(1994) , 10.1038/NG0194-24
Maria G. Miano, Samuel G. Jacobson, Andrew Carothers, Isabel Hanson, Peter Teague, Jill Lovell, Artur V. Cideciyan, Neena Haider, Edwin M. Stone, Val C. Sheffield, Alan F. Wright, Pitfalls in Homozygosity Mapping The American Journal of Human Genetics. ,vol. 67, pp. 1348- 1351 ,(2000) , 10.1016/S0002-9297(07)62966-8
CG Woods, Enza Maria Valente, J Bond, E Roberts, A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR Journal of Medical Genetics. ,vol. 41, pp. e101- e101 ,(2004) , 10.1136/JMG.2003.016873