Arid
DOI10.1086/340605
Systematic evaluation of map quality: Human chromosome 22
Matise, TC; Porter, CJ; Buyske, S; Cuttichia, AJ; Sulman, EP; White, PS
通讯作者Matise, TC
来源期刊AMERICAN JOURNAL OF HUMAN GENETICS
ISSN0002-9297
出版年2002
卷号70期号:6页码:1398-1410
英文摘要

Marker positions on nine genetic linkage, radiation hybrid, and integrated maps of human chromosome 22 were compared with their corresponding positions in the completed DNA sequence. The proportion of markers whose map position is <250 kb from their respective sequence positions ranges from 100% to 35%. Several discordant markers were identified, as well as four regions that show common inconsistencies across multiple maps. These shared discordant regions surround duplicated DNA segments and may indicate mapping or assembly errors due to sequence homology. Recombination-rate distributions along the chromosome were also evaluated, with male and female meioses showing significantly different patterns of recombination, including an 8-Mb male recombination desert. The distributions of radiation-induced chromosome breakage for the GB4 and the G3 radiation hybrid panels were also evaluated. Both panels show fluctuations in breakage intensity, with different regions of significantly elevated rates of breakage. These results provide support for the common assumption that radiation-induced breaks are generally randomly distributed. The present studies detail the limitations of these important map resources and should prove useful for clarifying potential problems in the human maps and sequence assemblies, as well as for mapping and sequencing projects in and across other species.


类型Article
语种英语
国家USA ; Canada
收录类别SCI-E
WOS记录号WOS:000175445700002
WOS关键词RADIATION HYBRID MAP ; HUMAN-CHROMOSOME 21 ; HUMAN-GENOME ; DNA-SEQUENCE ; RECOMBINATION ; CONSTRUCTION ; DATABASE ; LINKAGE
WOS类目Genetics & Heredity
WOS研究方向Genetics & Heredity
资源类型期刊论文
条目标识符http://119.78.100.177/qdio/handle/2XILL650/142001
作者单位(1)Rutgers State Univ, Dept Genet, Piscataway, NJ 08854 USA;(2)Rutgers State Univ, Dept Stat, Piscataway, NJ 08854 USA;(3)Hosp Sick Children, Bioinformat Supercomp Ctr, Toronto, ON M5G 1X8, Canada;(4)Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA;(5)Univ Penn, Dept Pediat, Philadelphia, PA 19104 USA
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GB/T 7714
Matise, TC,Porter, CJ,Buyske, S,et al. Systematic evaluation of map quality: Human chromosome 22[J],2002,70(6):1398-1410.
APA Matise, TC,Porter, CJ,Buyske, S,Cuttichia, AJ,Sulman, EP,&White, PS.(2002).Systematic evaluation of map quality: Human chromosome 22.AMERICAN JOURNAL OF HUMAN GENETICS,70(6),1398-1410.
MLA Matise, TC,et al."Systematic evaluation of map quality: Human chromosome 22".AMERICAN JOURNAL OF HUMAN GENETICS 70.6(2002):1398-1410.
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